Aarskog syndrome, 433
abdomen
body wall defect of, 69, 300
calcifications within, 118, 509
circumference measurement method, 51
enlarged, 50
in situ examination at autopsy, 53
lower half missing in infant of diabetic, 297
organs situs inversus, 53
skin flaps with umbilical artery/vein, 52
sonographic evaluation of, 116, 507–512
transducer setup for, 116
thoracic/abdominal-circumference ratio, 127
abdominoschisis, secondary, 299
abortion
conceptuses, examination of, 13–16
defined, 14, 18, 24
early, causes of, 18
lupus erythematosus and, 157
spontaneous, 14, 608
incidence and types of chromosomal abnormalities in, 185
risk associated with drinking, 286
abruptio placentae, 26, 36, 156
acardia: autopsy findings, 623
ACE inhibitors, defects from, 286
achondrogenesis
clinical features, 400
defined, 400
incidence in live births, 424
newborn radiograph, 401
pathological features, 410
radiological features, 400
Type IA
newborn, 401
resting cartilage, 401
Type IIA
newborn, 402
resting cartilage: photomicrograph, 402
small fetus: radiograph, 402
achondroplasia (common dwarfism)
defined, 394–396
heterozygous newborn, 397
homozygous newborn, 397
homozygous, physeal growth zone, 397
homozygous: radiological and pathologic features, 394
incidence of cardiac malformations in, 433
acidemias, organic, 647–649
acrocephalosyndactyly syndromes, 375
acrocephaly, 378
acrodermatitis enteropathica, 584
acrofacial dysostosis, 433
acropustulosis of infancy, 588
acrorenal field defect, 433
adenovirus, 616
adrenal gland, in situ tumor, 560
adrenal hyperplasia, congenital, 535, 570–571
adrenal hypoplasia, types of congenital: characteristics and diagnosis, 532
adrenogenital syndrome, 535, 570–571
adrenoleukodystrophy, X-linked, 652
African trypanosomiasis, 618
aganglionic megacolon. See Hirschsprung disease
agnathia, 383
akinesia, fetal (multiple pterygia), 224, 598
Alagille syndrome, 433, 504
alcohol use
congenital heart disease and, 129
embryopathy from, 285–286
health care costs from, 286
miscarriage risk associated with, 286
see also fetal alcohol syndrome
alkaptonuria, 637
alpha1-antitrypsin deficiency, 502
alveolar rhabdomyosarcoma. See rhabdomyosarcoma, alveolar
amelia in infant of diabetic mother, 296
American trypanosomiasis. See Chagas disease (South American trypanosomiasis)
amino acid disorders, 635
aminoaciduria, 638
aminopterin embryopathy, 290–292
amniocentesis complications, 40
amnion disruption sequence
anomalies seen in, 303–305
causes of, 301–303
classification of disorders within, 302
early, effects on fetus, 306
outlined, 302
temporal relationship of abnormalities in early, 303
types of lesions in, 301
amnion nodosum, 166
amnionic sac
3-D views of, 145, 146
8th week appearance, 146
within opened chorionic sac, 20
amniotic bands
6-week embryo with, 304
attached to head, 305
attached to placenta, 305
defined, 25, 169
fetuses with, 301, 303
fingers amputated and constricted by, 308, 306
leg constriction from, 306
microscopic appearance, 304
on hands causing amputations, 306
umbilical cord constriction from, 169, 306
with fetal skin, 304
amniotic fluid
anhydramnios, 123
aspiration of, 481
decreased production of, 123
electrolyte concentration of, 89
normal dynamics of, 321
origin of, 89
polyhydramnios, 90
primary source of, 89
volume
after 40 weeks, 321
at term, 321
estimation of, 89, 318
see also oligohydramnios; polyhydramnios
amniotic fluid index, 82, 90, 318
amniotic membranes
in amnion nodosum, 166
meconium staining of, 166
smear with cytomegalovirus, 161
squamous metaplasia of, 165
amphetamine use, maternal, 129, 466
anal atresia, 497
anemia, fetal, 152–154
anencephaly
52-day embryo, with complete rachischisis, 339
18-week fetus, with complete rachischisis, 339
27-week fetus, with ‘Berét’ of brain tissue, 340
cause of, 107
defined, 338
fetus with: sagittal image, 107
from amniotic bands attached to fetus, 303
heterotopic brain in, 475
incidence of, 338
kinds of cases, 338
pathogenetic events sequence, 338–339
reasons to suspect, 107
recurrence risk for multifactorial, 338
with spinal rachischisis, 340
without rachischisis, 339
aneuploidy
anomalies likely with, 103
congenital heart disease and, 129, 466
dysplasia in, effects of, 185
facial clefts and, 115, 387
gonadal effects of, 185
incidence with ventriculomegaly, 105
marker of, 112
omphalocele and, 121, 511–512
pathologic markers identifiable in, 185
pre-screening risk of, 92
risk assessments, 93–95, 106–107
screening for multiple markers of, 93–94
screening tool for, 84, 113
serum screening for, 92–93
single umbilical artery and, 133, 544–545
sonographic markers of, utility of, 94
angiofibromas of facial skin in tuberous sclerosis, 258
angiomyolipomas of kidney in tuberous sclerosis, 259, 526
angiotensin-converting enzyme inhibitors, defects from, 286
anhydramnios, 123
annular pancreas, 506
anomalies, minor, versus mild malformations, 213
anomalous pulmonary venous connections
partial, 445
total, 445, 455
anophthalmia-plus (Fryns) syndrome, 249–251
anorectal malformations, 497–499
anterior fontanelle, 63
antibiotics, prophylactic, 36
anticonvulsant embryopathy, 285–286
anticonvulsants, 287
α1-antitrypsin deficiency, 502
anus
atresia of, 497
imperforate
types of, 498
with rectoperineal fistula, 499
with rectovesical fistula, 499
aorta
coarctation of, 452–453
adult type, 203
infantile, 203
filled with macerated brain, 70
Marfan syndrome: dissection, 262
opened, 441
aorta-pulmonary confluence, in situ view, 441
aortic arch
anatomy, 135–136
double, vascular ring with, 457
interrupted, 453
sonographic evaluation of, 465
strap vessels visible: sagittal image, 121
aortic atresia, 450
aortic stenosis, supravalvular, 450–451
aortic wall: dissection, 263
Apert syndrome
craniosynostosis in, 376
defined, 373–374
features of, 376
incidence of cardiac malformations in, 433
appendix, in situs inversus, 53
aprosencephaly, 345
arachnodactyly, 203
area cerebrovasculosa, 339
arhinencephaly
defined, 345
facial indicator of, 213
illustration, 345
trisomy 13, 193
Arnold-Chiari malformation, 350–352
arrhythmogenic right ventricular dysplasia, 458–459
arthrogryposis
causes of, 225
in 32-week fetus, 224
artifact-defect differentiation, 69–72
artifactual abdominal wall defects, 69, 70
arylsulfatase deficiencies
arylsulfatase A, 644
multiple (Austin disease), 645
ascites, fetal
31-week fetus: ultrasound, 328
causes of, 328–329
chylous, 328
in mucolipidosis II, 328
urinary, 328
aspergillus infection, 620
septicemia in newborn, 619
asphyxia, intrauterine, 30–31
asphyxiating thoracic dysplasia, type I
defined, 405–406
growth plate, 406
neonate with, 406
radiograph, 406
outlined, 406
aspiration
amniotic fluid, 40
meconium, 40, 481
asplenia syndrome
defined, 454
diagram of organs in, 454
in situ organs of 14-week fetus with, 454
trilobed lungs, symmetrical, in, 475
associations, 211, 217
astrocytomas
characteristics of, 572–573
giant cell, in tuberous sclerosis, 259
pilocystic: microscopic appearance, 573
atelencephaly, 345
atelosteogenesis, 420
atrial appendages
arrangement of, 55–56
left-sided morphologic right, 455
right-sided morphologic right, 455
atrial septum
absence of, 437–438
defects in
illustration of sites, 436
ostium primum, 436–438
ostium secundum, 436, 438
septum secundum, 72, 438
sinus venosus, 436
atrioventricular septal defect
22-week, trisomy 21 fetus: ultrasound, 439
double-outlet right ventricle with, 455
intermediate, 438
malaligned, and hypoplastic LV: ultrasound with color Doppler, 439
prednisone and, 294
septa: primum, secundum, interventricular, 439
auricular hillocks, 10
Austin disease (multiple sulfatase deficiency), 645
autopsy
acardia, findings in, 623
artifact-defect differentiation, 69–72
cardiac conduction system examination, 60
catheters and tubes during, 52
checklist, 49
chest plate removal, 53
chromosome analysis, indications for, 52
clinical information necessary, 49
cytogenetic studies, indications for, 52
dilatation and evacuation, 72–74
equipment for, 48–49
evisceration in
basic issues, 58
of brain, 61–63
of external genitalia, 59–60
of eyes, 66
of pituitary, 65
of spinal cord, 63–65
of temporal bone, 66–67
of tongue, 59
external examination, 50–52
eyes, incisions for removing, 66
fetoplacental examination, 667
heart perfusion-fixation, 68
heart windowing, 68–69
in situ examination
abdomen, 53
heart, 54–58
lungs, 54
thorax, 53–54
incisions
external genitalia removal with organ block, 59
eyes removal, 66
initial, 52–53
‘question-mark,’ 64, 65
scalp-reflection, 62
temporal bone removal, 67
Y-shaped, illustration of, 52
lung cultures during, 53
measurements
methods for taking, 50, 51
to take, 50
microscopic examination in, 69
microscopic sections in, routine, 68
organ block dissection, 67
photographs in, 47
placenta examination, 46
pneumothorax, testing for, 53
post-evisceration procedures, 60–61
primary cause, path to, 667
protocol for, 670
roentgenographic examination, 47
temporal bone removal
cuts needed for, 67
procedure, 66–67
tissue sampling in, 52
azygos vein, 55
back, bulges in, from macerated brain, 70
basal cell carcinoma syndrome (Gorlin syndrome), 266–267
Batsocas-Papas syndrome (popliteal pterygium), 251–252
Batten disease. See neuronal ceroid lipofuscinosis (NCL)
‘BBB’ syndrome, 433
Beckwith-Wiedemann syndrome
clinical manifestations, 231
defined, 122
bHCG levels, 96
bile ducts, dilatation of, 503
biliary atresia, extrahepatic, 501, 505
biophysical profiles, 82
biparietal diameter (BPD)
as age gauge, 310
relationship between gestational age and, 675
biparietal-diameter/femur-length ratio
by gestational age, 425
standard deviations per gestational age, 132
Birbeck bodies: electronmicrograph, 599
birth defects. See congenital anomalies and malformations
birth trauma
neonatal death and, 40
occipital diastasis, 40–41
skull fracture from forceps delivery, 41
subgaleal hemorrhage, 41
birth weight, low
defined, 310
incidence of
by gestational age, 311
by society type, 310
worldwide, 310
morbidity and, 310
quadruplet, 627
very low, infants of, 33
bladder
absent, 122
dilated
in 32-week fetus, 524
ultrasound of, 523
with keyhole urethral orifice: ultrasound, 523
exstrophy of, 531
not easily imaged, 124
sonographic evaluation of, 85, 544
with ureters, 73
blastocyst, 1
blastogenesis
anomalies of, versus organogenetic anomalies, 222–223
defects of, 209
defined, 220, 222
summary of, 3
blastomeres, 1
blighted ovum, 13, 15–16
blood dyscrasia, 40
blue nevus, 595
Bochdaleck hernia, 130
body mass index, 318
body stalk, 8
bone dysplasias, prenatal diagnosis of, 390
bone marrow with parvovirus B19 infection, 616
bones. See skeletal system
boomerang dysplasia, 420
borreliosis (lyme disease), 618–619
botryoid rhabdomyosarcoma. See rhabdomyosarcoma, botryoid
bowel
atresias. See under intestinal disorders
colon: normal diameter by gestational age, 509
diameter of, 121
dilated, 118–119, 121, 509–510
echogenicity of, 117–118, 499, 508–509
twin: separate small bowels with shared colon, 633
BPD. See biparietal diameter
Brachmann-De Lange syndrome, 231–232, 235
brachycephaly, 363
brachysyndactyly, 288
bradyarrhythmias, 467
bradycardia
association with CHD, 129
association with maternal collagen vascular disease, 467
concomitant conditions, 136–137
etiology, 136
maternal collagen vascular disease and, 137, 467
transient, 136, 466
brain
13-gram microcephalic, 356
5-week, developing: ultrasound, 338
22-week hemorrhage, 33
25-week: intracerebral hemorrhage, 33
anencephalic; sagittal image, 107
Berét of, 340
cerebellar hemangioblastoma: microscopic appearance, 573
cerebral cyst, in Seckel syndrome, 247
cerebral surface in congenital toxoplasmosis, 606
Chagas disease: parasitized microglial cells, 617
cloverleaf appearance with bulging temporal lobes, 377
corpus callosum missing: cross section, 359
cross section in skull, 66
cytomegalovirus infection, necrosis from, 611
Dandy-Walker malformation with posterior fossa cyst, 352
development of fetal, 337
development of normal, 344
early, 336
edema, severe, 36
gyral pattern on surface, in Smith-Lemli-Opitz syndrome, 242
hamartoblastoma at base, 266
heterotopic, 474, 475
hydrocephalic, cross section, 351
in kernicterus due to erythroblastosis fetalis, 326
intraventricular hemorrhage, 33
lesions from congenital toxoplasmosis, 607
neurons distended (Pompe disease), 646
occipital encephalocele, with, 64
pachygyria
in child with tuberous sclerosis, 357
in tuberous sclerosis, 259
in Zellweger syndrome, 250, 653
periventricular leukomalacia, 36
porencephalic cysts
coronal section, 36
following H.I.E.: ultrasound, 36
removal at autopsy, 61–63
removed, with calvaria, 63
‘swiss cheese,’ 297
in surviving twin, 629
trisomy 13: holoprosencephaly spectrum, 193
trisomy 21, 188
ventricle/hemisphere ratio, 104, 360
ventricles
abnormal dilation of, 104
asymmetric within calvaria, 104
‘candle-guttering’ in, 258
diameters, 104, 360
with spinal cord and myelomeningocele intact, 65
see also cerebellum, and specific disorders
brain tumors
forms of, 572–573
of childhood, 572
pediatric, distribution by type, 571
posterior fossa, 571
presenting signs, 571–572
types encountered, 572
branchial arches, 6–8, 10
bronchi
bilateral morphological left, 455
morphology of
injection study to determine, 47
normal, posterior view, 56
bronchial atresia, 129
bronchiectasis, 484
bronchoesophageal fistula types, 473
bronchogenic cysts, 130
bronchopulmonary dysplasia
defined, 484
progression of hyaline membrane disease to, 483
café-au-lait lesion in neurofibromatosis, 255
caliectasis, 124–125
calvaria
in osteogenesis imperfecta, 412
lemon-shaped cross-section, 104
calyx, 124
campomelic dysplasia
clinical features, 420
defined, 418
femur, bent: ultrasound, 419
femur, tibia, and fibula in, 419
incidence of, 424
incidence of cardiac malformations in, 433
infant with, 419
pathologic features, 420
skeletal system: radiograph, 419
campylobacter (vibrio) fetus infection, 619–620
canalization, 336
Candida albicans, mycelial and yeast forms, 168
Candida infection
of the infant, 168, 589, 619
of umbilical cord, 168, 620
septicemia from
necrotizing lesions in newborn lung, 619
newborn’s body, 619
newborn’s face, 619
more illustrations, 590
canthal distances, inner and outer, 50
capillary alveolar dysplasia, 481
cardiac conduction system examination, 60
cardiac function
assessment protocol, 114
hemangiomas and, 114–115
cardiac tumors, 570
cardiovascular defects
arteriovenous shunts, 436–441
categories of, 436
chromosomal abnormalities with, 429–432
disorders associated with, 431
environmental causes of, 431
incidence and etiology, 429–436
incidence in multiple-malformation syndromes, 433
obstructive lesions, 448–450
selected malformation syndromes having, 437
venous-arterial shunts, 441–448
cardiovascular system
early, 6
fetal circulation, simplified scheme of, 430
see also cardiovascular defects
Carnegie staging, 1–12
carnitine deficiency
cardiac effects from, 433
carnitine metabolism and transport, 651
lipid vacuoles of muscle biopsy from type I, 652
overview of, 649–651
Caroli disease, 500
Carpenter syndrome
defined, 377
features of, 378
illustrated, 378
cavitation, 76
CBDC. See chronic bullous disease of childhood
CCAM (CPAM). See congenital cystic adenomatoid malformations (congenital pulmonary airway malformation)
cebocephaly, 191, 344
central nervous system
asymmetric within calvaria, 104
defects in
causes of, 336–338
incidence of, 335, 337
development of, 335–336
first appearance, 5–6
see also brain; spinal cord
cephalic bud, 21
cephalic index (CI), 13
cephalic pole with cyst, 21
cephaloceles
causes of, 108, 361
defined, 107, 361
disorders seen with, 108, 361
incidence of, 107, 361
location of, 108, 361
prognosis, 108, 361
sonographic evaluation of, 108, 361
syndromes seen in, 361
types of, 107–108, 361
see also encephaloceles
cerebellar vermis, 112, 364
cerebellum
19-week fetus: axial image, 111
abnormal incidence in cases of ONTD, 111
axial image, 110
banana-shaped, 111–112, 364
hemangioblastomas of, 573
herniation of, 64
hypoplastic, 352
invisibility of, 111, 364
normal shape of, 112
transverse diameter, 112
cerebral artery, middle, visible pulsation of, 104
cerebrohepatorenal syndrome. See Zellweger syndrome
cervical flexion
abnormal, 21
absent, 21
cervix
dilation of, 85
length averages, 85
septate cervices, 537
sonographic evaluation of, 85
Chagas disease (South American trypanosomiasis)
brain with, parasitized microglial cells in, 617
characteristics of, 617
histopathologic diagnosis, of, 617
presenting forms, 617
skeletal muscle, 617
CHARGE polytopic field defect
32-week fetus with, 59
defined, 217
heart defects in, 431
incidence of cardiac malformations with, 433
neonate with, 218
chest
circumference: average ranges, 127
circumference measurement method, 51, 127
cystic abnormalities in, 129
evaluating size per gestational age, 127
sonographic evaluation of, 85
tumors in, 129
see also thorax
chest plate removal, 53
Chlamydia trachomatis, 603
choanal atresia, 470
choledochal cyst, 503–504
cholestasis
assessment of, 501
causes of, 504
liver with: microscopic section, 196
cholesterol ester storage disease, 645
chondrocytes
in fibrochondrogenesis, 405
in Kniest dysplasia, 404
in spondyloepiphyseal dysplasia congenita, 403
chondrodysplasia punctata
cystic degeneration in cartilage: microscopic focus, 417
facies, chipmunk-like, 417
incidence of, 424
rhizomelic type
cartilage in, 417
clinical features, 416
defined, 415
neonate with, 417
pathological features, 418
radiological features, 416
types of, 415–420
chondrodysplasias, molecular defects in, 389
chondrodystrophies, 132
chondroectodermal dysplasia (Ellis-van Creveld syndrome)
defined, 406–409
incidence of cardiac malformations in, 434
peg-shaped teeth, 407, 598
polydactyly with third-fourth metacarpal fusion: radiograph, 407
chorangiomas, 162
chorangiosis, 160
chorioamnionitis
acute
effects of, 602–603
opaque membranes in, 167
stage three, 167
bacterial pathogens associated with, 602
causes of, 169
effects of, 25, 165, 167–168
grading, 169
streptococcal
endocarditis in newborn from, 603
intrauterine pneumonia in infant from, 603
choriocarcinoma, 574
chorionic sac, 15, 21
chorionic vascular thrombosis, 169
chorionic villi, 6
chorionic villus sampling
outlined, 304
possible effects of, 304, 422–423
choroid plexus cysts
aneuploidy incidence with, 106, 361–362
as indicators, 106, 361
as variant of choroid plexus, 361
counseling for, 106, 362
incidence of, 106, 361
incidence with trisomies 13/18/21, 106
prognosis, 106
size and occurrence of, 361
trisomy 18 risk with, 106, 362
choroid plexuses
3-D view at 12 weeks, 147
dangling, 360
defined, 105
early, 336
examining, 360
normal appearance, 106
papilloma
illustration, 572
microscopic appearance, 572
ultrasound of, 572
choroids, 105
Christ-Siemens-Touraine syndrome, 597–598
chromosomal abnormalities
balanced translocations, parental, 183
deletions, 180
events presenting, 182
femur length and, 425
incidence of, 184
intrauterine growth retardation and, 314–315
inversions, 180
isochromosomes, 180
likelihood per maternal age, 183
mild malformations due to, 184–185
mortality rates of conceptuses with, 183, 185
phenotypic expression of, 183
rates of, 180–182
trisomy recurrence risk, 183
types in liveborn infants, 183
see also specific syndromes
chromosomal syndromes, pathologic examination for, 184
chromosomes
chromosome 7, insertional translocation of, 181
structural abnormalities of, 181
chronic bullous disease of childhood (CBDC) (linear IgA dermatosis)
bullous lesion: microscopic appearance, 583
defined, 583–584
IgA immunofluorescence, 583
ruptured bullae, 583
chylothorax, fetal, 329–331
CI (cephalic index), 13
cilium, 484
circulation, fetal: simplified scheme, 430
cirrhosis. See liver
cisterna magna
absent or narrow, 364
axial image, 110
depth of, 110–112, 364
enlarged, 364
sonographic evaluation of, 112, 364
cleavage, 1
cleft sternum-hemangioma association, 433
cleidocranial dysplasia, 381
cloacal exstrophy, 122, 300
cloacal membrane, agenesis of, 214
cloverleaf skull. See skull
club foot (talipes equinovarus deformity)
in 31-week fetus: 3D ultrasound, 224
in case of diastrophic dysplasia, 421
CMN. See congenital mesoblastic nephroma
coarctation of aorta, 452–453
cocaine use
embryopathy from, 295
stillbirths and, 30
coelom, extraembryonic, 146
collagen vascular disease, 137, 467
collodion baby. See ichthyosis, lamellar
coloboma of iris, 594
colon
diameter of, 119
normal, by gestational age, 509
stage of visibility, 119
conceptuses, examination of, 13–16
conduction tissues examination, tissue blocks removed for, 61
congenital adrenal hyperplasia, 535, 570–571
congenital adrenal hypoplasia: types, characteristics, and diagnosis, 532
congenital anomalies and malformations
causes by category and type, 211
factors behind, distribution of, 212
incidence of, 91
kinds of, 38
minor, 213
sonographic detection rates, 91
sonographically detectable, 91–92
see also deformities
congenital cutaneous dystrophy (Rothmund-Thomson syndrome, Poikiloderma congenitale), 594
congenital cystic adenomatoid malformations (CCAM), congenital pulmonary array malformations (CPAM)
defined, 130
pathologic features of, 477
sonogram of, 476
sonographic appearance of, 130
types
defined, 475
diagram of, 476
microscopic appearance, 475
Type 1, 130, 476
Type 2, 476
Type 3, 130, 476
congenital heart disease. See heart disease, congenital
congenital mesoblastic nephroma
cystic, 565
defined, 565–566
flow chart, 565
microscopic appearance, 565
spindle cells in: electronmicrograph, 565
tumor in newborn, 565
congenital nephrotic syndrome
defined, 529–530
differential diagnosis, 529
kidney in: microscopic section, 528
lamina densa: electronmicroscopy, 528
Conradi-Hünermann chondrodysplasia punctata, 415
copper metabolism defects, 653–655
Cornelia de Lange syndrome, 433
coronary artery, left, 453
corpus callosum, 358, 359
cortical mantle thickness, 675
Costello syndrome, 433
Cowden syndrome (multiple hamartoma syndrome), 273–274
Coxsackie viruses, 614
CR length. See crown-rump length
craniopharyngioma
characteristics of, 574–575
defined, 574
microscopic appearance of, 573
craniorachischisis, 338, 340
craniosynostosis
conditions with known causes of, 373
in Apert syndrome, 376
non-syndromal
common types, 372
deformation severity, 371–373
general character of, 371, 373
illustrated, 371, 372
syndromes involving, 374
X-ray showing sagittal, 371
Cri du chat syndrome (5p-)
abnormalities in, 198–199
face, 199
incidence of, 198
karyotype of, 198
Crouzon syndrome
child with, 377
craniosynostosis and markings on calvaria: radiograph, 377
defined, 374–375
features of, 377
crown-heel length
8 to 26 weeks: mean values by week, 663
crown-rump length and, 50
measurement of, 50
crown-rump length
8 to 26 weeks: mean values by week, 663
average value range, 84
crown-heel length and, 50
defined, 13
head circumference and, 50
measurement, 50
per developmental age in previable fetuses, 662
per growth stage, 2
predictive error, 13
cutaneous dystrophy, congenital (Rothmund-Thomson syndrome, Poikiloderma congenitale), 594
cyclopia, 191
cyllosomas, 300
cystic fibrosis
clinical features, 481–482
defined, 481, 505
development of, 505–506
diagnostic test for, 482
effects of, 505, 555
gastrointestinal abnormalities in, 505
genetic basis of, 482
incidence of, 482, 505
lungs in, showing infected bronchi and abscesses, 482
meconium ileus in, 499
meconium in intestinal lumen and, 491
pancreatic, 506
cystic hygroma
bilateral of the neck, 202
causes, 113–114
characteristics of, 332–334
chromosomal abnormalities and, 114, 331–332
defined, 113–114, 331
huge, in 45, X fetus, 202
incidence of, 114, 333
lymphatic defects outlined, 332
mechanism of, 330
microscopic appearance of, 332
monosomy X fetus with, 331
monosomy X fetus with multiloculated, 331
nuchal thickness and, 333
presenting appearance, 114
trisomy 21 fetus with, 331
with septation: axial image, 113
cystic lymphangioma of the mesentery, 551
cystic medionecrosis in Marfan syndrome, 263
cystinosis, 655
cytogenetic abnormalities and morphology, 19
cytogenetic studies, indications for, 52
cytogenetic terminology, 657–659
cytomegalovirus
brain infected by
cut surface of, 611
necrosis in, 611
diagnosis of, 611
embryopathy from, 280–281
in alveolar lining cells in lung, 610
in amniotic membranes smear, 161
in renal tubular epithelial cells, 610
intrauterine transmission, incidence of, 610
manifestations of, 610–611
petechial hemorrhages in newborn from, 280, 610
placental changes from, 611
urinary sediment with intranuclear inclusion, 610
cytomegaly, 433
cytotrophoblast, 4
Dandy-Walker malformations
abnormalities associated with, 112, 353, 363
cysts, 64, 352
defined, 112, 350, 352–353, 363
drawing of, 352
suggesting Meckel syndrome, 122
ultrasound of, 352
dappled diaphyseal dysplasia, 420
DE specimens
for Meckel syndrome rule-out, 72
right kidney absence rule-out, 73
typical appearance, 71
upper limbs from, 71
defect-artifact differentiation, 69–72
deformities, 211, 223–224
dental abnormalities, 248, 386
incisor-notching from congenital syphilis, 604
missing teeth, 598
peg-shaped teeth, 407, 598
prolonged retention of deciduous teeth in cleidocranial dysplasia, 381
stained teeth, 292
dermopathy, restrictive
29-week fetus, 592
defined, 593
hyperkeratosis and parakeratosis in, 592
keratohyalin granules: electronmicroscopy, 592
term female infant, 592
DES (diethylstilbestrol) embryopathy, 283
Desbuquois syndrome, 418
development, human, periods in, 276
development, landmarks of early, 4
development time periods, embryonic and fetal, 660
developmental age
criteria for, 16
crown-rump length and, 662
hand and foot length correlated with, 663
developmental fields
defects
defined, 211
types of, 212
defined, 207
events in, 208
midline, 213
primary, 207–208
progenitor, 208
secondary (epimorphic), 208
developmental stages
criteria for estimating, 17
dating of, 2
embryonic, 1–12
summary 0–35 days, 3
summary 35–60 days, 3
see also growth
dextrocardia, 453–454
dextroposition, 453
diabetes mellitus, maternal
abdomen: lower half missing in infant, 297
amelia of upper limbs in infant, 296
embryopathy from, 296, 348
infant abnormalities and
cardiovascular, 297
central nervous system, 297
miscellaneous others, 297
summaries of, 39, 297
types of, 296
infant with sirenomelia, 297
neonatal risks from, 38–40
pancreas in infant, 507
stillbirths and, 30
diaphragm
defect in, 301
eventration of, 487
sagittal image, 122
see also diaphragmatic hernias
diaphragmatic hernias
abnormalities associated with, 130
Bochdaleck, 130
characteristic locations of, 130
incidence of, 130, 488
pathogenesis of, 486–488
prognosis, 130
through foramen of Bochdalek, 487
types of, 486
diastrophic dysplasia
defined, 418
joint contractures in infant, 421
pathological features, 420
radiological features, 420
scoliosis in: X-ray, 421
diethylstilbestrol (DES) embryopathy, 283
DiGeorge sequence, 220–221, 433
dilatation and evacuation at autopsy, 72–74
diphenylhydantoin, 129
diprosopus, 632
disruptions
causes, types of, 275
defined, 218–219, 275
drug-related, 283–295
examples of, 219, 277
teratogenic, 275–278
see also embryopathy
TORCH infections, 279–282, 606
vascular
causes in twins, 301
embryonic and fetal results of, 298
forms of, 296–297
mechanisms of, 298
‘double bubble sign,’ of duodenal atresia, 117
double outlet right ventricle
15-week gestation, 446
20-week gestation: ultrasound, 446
defined, 445–446
Down syndrome. See trisomy 21
drinking. See alcohol use; fetal alcohol syndrome
drug abuse, stillbirths and, 30
Dubowitz syndrome, 232–234, 236
ductus arteriosus
defined, 136, 465
function of, 136, 429
patent, 440–441
diagram of blood flow in, 441
in case of persistent fetal circulation, 441
premature closure of, 429–430
sonographic appearance, 465
duodenal atresia
abnormalities associated with, 118–119
aneuploidy and, 118, 510
cause of, 491
‘double bubble’ sign: ultrasounds, 117, 492
effects of, 118, 509–510
incidence of, 118, 509
thalidomide association, 118, 510
Trisomy 13 incidence with, 510
Trisomy 21 incidence with, 510
duodenum recannulation, 118
dup (3q) syndrome, 232
dwarfism
bird-headed, 248
common (achondroplasia)
defined, 394–396
heterozygous newborn, 397
homozygous newborn, 397
thanatophoric, 394
dysmorphology exam, 228
dysplasias
defined, 211, 220, 254
metabolic, 274
overviews of, 221
skeletal, 132–133, 424
dysrhythmias, fetal, 466–467
ears
anomalies of, 385–386
flattened, due to oligohydramnios, 386
helix development incomplete, 386
inner, beginning development of, 8
large malformed, in Smith-Lemli-Opitz syndrome, 240
lobulus missing, in trisomy 21 fetus, 386
microtia, 386
preauricular tag, 386
‘primitive’ cup-shaped, in anencephalic infant, 386
protruding, from lack of posterior auricular muscle, 386
rotated postaxially, low-set, 385
trisomy 8, 197
Ebstein malformation, 446
ECHO virus (enteric cytopathogenic human orphan), 614
echocardiograms, abnormal, incidence of, 429
echocardiography, fetal
indications for, 429
overview, 428
ectoderm, 3, 4
ectodermal dysplasias
defined, 597
hidrotic form, 597
missing and peg-shaped teeth, 598
skin: microscopic section, 598
X-linked recessive anhidrotic form, 597–598
ectopia cordis
8-week embryo with, 368
28-week fetus with: ultrasound, 457
defined, 457
in pentalogy of Cantrell, fetus with, 301
Ehlers-Danlos syndrome
arthrochalasia type, 270
classic type, 267–269
classification of types of, 268
clinical manifestations, 267–268
defined, 267
dermatosparaxis type, 270
etiology, 267
features needing assessment in, 268
finger hyperextensibility, 267
finger webbing, 267
hypermobility type, 269
incidence of cardiac malformations in, 434
kyphoscoliosis type, 269–270
Type IX, 270
vascular type, 269
elbow regions, 12
Ellis-van Creveld syndrome. See chondroectodermal dysplasia
embryogenesis, schema of, 208
embryonal carcinoma, 555
microscopic appearances of, 556
embryonic age, 13
embryonic development
summary of, 661
time periods of, 660
embryonic disc
formation and function of, 4
second week, bilaminar, 4
embryonic period, 13–14
embryopathy
alcohol use, maternal, from, 285–286
aminopterin, 290–292
angiotensin-converting enzyme inhibitor, 286
anticonvulsants, from, 285–286
cocaine, 295
cytomegaloviral, 280–281
diabetic, 296, 348
diethylstilbestrol, from, 283
etretinate, 272, 287
folate antagonist, 290–291
hemodynamics, altered, from, 296–297
herpes virus, from. See main entry
hyperthermic, 278–279
isotretinoin. See main entry
lysergic acid diethylamide (LSD), 292, 293
methotrexate, 96, 290–291
phenylketonuric, 293
prednisone, from, 294
progestin, synthetic, 292–293
radiation, 278
rubella. See main entry
sympathomimetic, 292
tetracycline, 291–292
thalidomide, 283–284
toluene. See main entry
toxoplasmosis, from, 282–283
valproic acid, 287
varicella/zoster. See main entry
Vitamin A, 286–287
Warfarin. See main entry
embryos
17-day: ultrasound, 5
5-week: brain: ultrasound, 338
5th week, sonography at, 144
41-day: microcephaly, 356
6-week: amniotic band attached to lip, 304
6th week features, 144
7th week
anencephaly, with complete rachischisis, 339
crown-rump measurement, 16
features of, 145
normal: 3-D surface view, 145
8th week
2-D coronal scan, 146
ectopia cordis, 368
features of, 145–146
median cleft lip and palate, 368
midline facial defect, thoracic wall defect, and ectopia cordis, 368
normal: 3-D surface view, 145, 146
9th week: 3-D surface view, 147
9th-10th week features, 146
10-week: hydrocephalus in ectopic pregnancy, 350
11th-12th week features, 146–148
12th week, 12, 147
aborted trisomy 13, 14, 15, 182
artifact-defect differentiation in, 69–72
βHCG levels and existence of, 96
complete specimens
cross-section, 15
defined, 15
macerated, 15
dating of, 2
development and growth summarized, 2
development time periods of, 660
developmental stages, 1–12
disorganized, trisomies found in, 182
early landmarks, 4
fetal period, at start of, 10–11
GD type II, 19–20
GD type III, 21
GD type IV, 15
grossly abnormal, 14
macerated, 15
measuring, 16
morphology by gestational age, 143–148
non-forming, trisomies involved in, 182
stage 10, 6
stage 10–12, 8
stage 11 diagram, 7
stage 12 drawing, 8
stage 13–15 ultrasounds, 9
stage 13 drawing, 9
stage 15, 9
stage 15 drawing, 9
stage 17 drawing, 10
stage 18–19, 10
stage 20, 10–11
stage 21–22, 10–11
stage 23 drawing, 10–11
teratogenic vulnerability of, 277–278
vascular disruption in, 298
see also twins
emphysema
congenital lobar
causes of, 478
defined, 478
hyperdistended alveoli: microscopic appearance, 478
middle lobe, 478
pulmonary interstitial, 480
encephaloceles
defined, 348
disorders associated with, 348–350
fetus with, 278
frontal, in 12-week fetus, 349
incidence of, 348
occipital
58-day fetus, 349
22-week fetus, 349
defined, 348
ultrasound of, 349
orbital, in 32-week fetus, 349
parietal
defined, 348
large, 349
ultrasound of, 349
posterior: axial image, 107
right ventricle communication with: injection study, 66
sonography of, 364–365
syndromes with, 350
encephaloclastic lesions, 297
encephalomalacia, multicystic, 297
endocardial cushion defects, 437–439
endocardial fibroelastosis, 457
left ventricular endocardium in, 458
microscopic section, 458
endocarditis, infective, in newborn, 603
endoderm, 3, 6
enterocolitis. See necrotizing enterocolitis
enteroviruses, 614
ependymomas, 574
epiblast, 3–4
epidermal nevus
child with, 593
microscopic appearance, 593
nevus sebaceous of Jadassohn, 593
microscopic appearance, 593
epidermolysis bullosa
cleavage places in, illustrations of, 582
dystrophic, microscopic appearance of, 582
electronmicroscopy of, 582
forms of, 581
widespread involvement in neonate, 582
Epstein-Barr virus, 614
erythema infectiosum, 615–616
erythema toxicum neonatorum (ETN)
defined, 587–588
intracorneal pustule: microscopic appearance, 589
papules and pustules of, 589
transient neonatal pustular melanosis, 588–589
erythroblastosis fetalis
brain: coronal section in kernicterus, 326
hydropic, anemic infant, 42
infant with hydrops due to, 325
kernicterus in infant with, 42
liver in: microscopic appearance, 326
mechanisms of, 41
placenta in, 325
microscopic appearance, 325
erythroderma, desquamative (Leiner disease), 580
esophageal atresia
abnormalities associated with, 116–117, 472, 490–491, 508
aneuploidy associated with, 116–117
causes of, 117, 508
defined, 490
features of, 490–491
incidence of, 117, 490, 508
indicator of, 117
pathogenesis of, 490
tracheoesophageal fistula and, 470–471, 491
ethmocephaly, 191
ETN. See erythema toxicum neonatorum (ETN)
etretinate embryopathy, 286–287
evisceration. See autopsy
Ewing sarcoma, 563–564
exencephaly, 339
extrahepatic biliary atresia, 501, 505
extremities
anomalous, in Goltz syndrome, 244
lengths calculated at close of each fetal month, 669
lower and upper, anomalies in (Goltz syndrome), 244
lower, missing in infant of diabetic, 297
short, from Warfarin embryopathy, 290
see also fingers; toes
eyebrows, hypoplastic, 292
eyelid fusion, 13
eyes
cataracts from effect of rubella, 280
chorioretinitis in congenital toxoplasmosis, 607
cyclopia, 191
early, 10
iris
Brushfield spots on, 187
lesch nodules in neurofibromatosis, 255
Kayser-Fleischer ring, 654
lens dislocation, in Marfan syndrome, 262
removal at autopsy, 66
removal via posterior approach, cuts needed for, 66
retinal dysgenesis with retinoblastoma, 193
facial anomalies
clefts
8-week embryo: midline facial defect, 368
8-week embryo with median, 368
9-week, spontaneously-aborted triploidy with bilateral cleft lip, 369
22-week fetus: bilateral facial, with rudimentary premaxilla, 385
24-week fetus: premaxilla, rudimentary: ultrasound, 385
28-week stillborn: cleft soft palate, 369
30-week fetus: lip, unilateral: 3D ultrasound, 384
31-week fetus: lip extending into nostril: 3D ultrasound, 384
34-week stillborn: cleft hard palate, 369
association with aneuploidy, 115, 387
bilateral (in Goltz syndrome), 244
bilateral, with residual premaxilla in trisomy 21, 385
bilateral, with rudimentary premaxilla, 383
face and cutis aplasia (in Goltz syndrome), 385
face, midline, with clefting of palate, in hydrolethalus, 358
face, oblique clefting, due to swallowed amniotic bands, 385
from amniotic bands, 305
hydrocephalus and, 384
incidence of, 115, 383, 386–387
lip/palate, 368
lip/palate after prednisone exposure, 294
lip/palate, syndromes in which are common, 369
palate, isolated, 368
palate, syndromes in which are common, 370
recurrence risk, 387
sonography of, 386–387
ultrasound of, 368
variety illustrated, 368
elfin face, in Williams syndrome, 243
facial bone hypoplasia, 109, 363
Fryns syndrome, 251
holoprosencephalic defects, 347
midfacial hypoplasia, 294
midline defects, trisomy 13, 188, 192
scarring from varicella, 282
triploid fetus with, 199
FADS (fetal akinesia deformation sequence), 224–225
familial hemorrhagic telangiectasis (Osler-Weber-Rendu disease), 484–485
Fanconi anemia, 434
fatty acid oxidation defects, 649–651
faxitron
illustration, 46
settings and exposure times, 48
femur length, shortened, 94
femur-length/abdomen-circumference ratio, 140
femur-length/foot-length ratio, 132, 425
fertilization age criteria, 18
fertilization process, 1
fetal akinesia deformation sequence (FADS), 224–225
fetal alcohol syndrome
abnormalities in, percent occurrence of, 287
brain in, 286
child with features of, 286
features and effects, 285
incidence, 285
incidence of cardiac malformations in, 434
infant with symptoms, 286
neuropathologic lesions from, 285
pathogenic mechanisms of, 285
see also alcohol use
fetal anticonvulsant syndromes, 287
fetal death
abruptio placentae and, 26
causes, 24
defined, 23–24
drug abuse and, 30
late intrauterine, incidence of, 23
maceration after, 28
placental abnormalities associated with, 23–26
statistical inclusion criteria, 23
timing, 27
umbilical-cord-related, 23–24
see also perinatal death; stillbirths
fetal face syndrome. See Robinow syndrome
fetal growth ratio (FGR), 317
fetal hydantoin syndrome, 287, 288
fetal hydrops
45, X fetus with, 202
changes occuring in, 324–325
conditions associated with, 322–327
frequency of causes, 324
immunologic
cause of, 324
maternal-fetal blood group incompatibility mechanism in, 325
laboratory studies for, 182–322
lysosomal storage disorders associated with, 184–328
minor, 321
mortality rate from, 322
severe, 321
see also hydropic infants
fetal measurements, diminished, 424
fetal period, 14
fetal rhabdomyomas. See rhabdomyomas, fetal
fetomaternal hemorrhage
diagnosis, 324
fetus with, 29
incidence of, 29, 324
results of massive, 324
size calculations, 29–30
testing for, 29
fetus in fetu
beating aortic vessel in: Doppler flow ultrasound, 552
beating heart in: Doppler flow ultrasound, 552
defined, 634
from neonatal retroperitoneum, 552
illustration, 634
teratoma and, 553
X-rays of, 552
fetus papyraceous
compressed onto placenta, 629
defined, 170
findings, 623
illustration, 170
fetuses
58-day: occipital encephalocele, 349
9-week
beginning of fetal period, 10–11
triploidy with bilateral cleft lip, 369
10-week: sirenomelia, 215
12-week: frontal encephalocele, 349
13-week normal: sagittal image, 188
14-week
asplenia, in situ organs of, 454
bilateral cleft lip, 190
bronchial morphology: injection study, 47
fingers overlapping, 194
meningomyelocele, 342
trisomy 21 with nuchal translucency, 188
15-week: Batsocas-Papas syndrome, 252
16-week
16-week, macerated, 69
bilateral midline cleft and premaxilla protrusion, 190
17-week
kidneys fused, 515
macerated, 70
renal agenesis, 516
18-week
anencephaly, with complete rachischisis, 339
anteroposterior and lateral views, 47
hypoplastic left heart: ultrasound, 452
19-week
cerebellum: axial image, 111
cervical length: sagittal image, 87
cisterna magna: axial image, 111
kidneys: axial image, 86
lumbosacral spine: sagittal image, 85
nuchal area: axial image, 111
parietal encephalocele, 66
profile: sagittal image, 108
urinary bladder: axial image, 85
20-week
cervix showing funneling: sagittal image, 87
hypoplastic left heart: ultrasound, 452
hypoplastic right ventricle: ultrasound with color Doppler, 449
ruptured meningomyelocele, 342
twins: ultrasound, 625
21-week macerated, 70
22-week
facial clefting, bilateral, with rudimentary premaxilla, 385
hypoplastic right ventricle, and PA stenosis: ultrasound, 449
occipital encephalocele, 349
right ventricle: ultrasound, 449
Seckel syndrome, 247
trisomy 18 with micrognathia, 194
trisomy 21: atrioventricular septal defect: ultrasound, 439
trisomy 21 profile, 187
23-week
septum secundum: ultrasound, 438
tetralogy of Fallot: ultrasounds, 447
ventricular septal defect: ultrasound, 440
24-week
4-chamber heart: axial image, 120
abdominal circumference: axial image, 84
cord insertion into abdomen: axial image, 86
femur length: axial image, 84
head and spine: coronal image, 85
premaxilla, rudimentary: ultrasound, 385
25-week: intracerebral hemorrhage, 33
26-week
cloverleaf skull after scalp reflection, 377
male genitalia: 3D ultrasound, 541
27-week
anencephaly, with ‘Berét’ of brain tissue, 340
urethral agenesis, 519
28-week
cranio-occipital rachischisis, 340
echogenic bowel: ultrasound, 499
ectopia cordis: ultrasound, 457
right atrium, dilated: ultrasound, 432
stillborn: cleft soft palate, 369
twins: 3D-ultrasound, 625
29-week: restrictive dermopathy, 592
30-week
cleft lip, unilateral: 3D ultrasound, 384
foramen ovale, premature closure of, 430
hydrocephalus and micropolygyria, 351
sutures, normal, and anterior fontanelle: 3D ultrasound, 372
31-week
ascites: ultrasound, 328
BPD and head circumference: axial image, 84
cleft lip extending into nostril: 3D ultrasound, 384
club foot: 3D ultrasound, 224
32-week
arthrogryposis, 224
bladder and ureters, dilated, 524
external genitalia in CHARGE association, 59
Fryns syndrome, 251
orbital encephalocele, 349
trisomy 18, 194
33-week: left ventricular outflow tract: ultrasound, 440
34-week
Potter facies from renal agenesis, 516
stillborn: cleft hard palate, 369
abdominal body wall defect, 69, 300
aborted, with herpes simplex, 612
amniotic bands attached to, 301, 303
anencephalic: sagittal image, 107
artifact-defect differentiation in, 69–72
artifactual abdominal defect, having, 69, 70
cyllosomas, 300
DE specimens. See main entry
development time periods of, 660
dicephalus dibrachus dipus (2 heads, 2 arms, 2 legs), 632
growth of, serial sonographic assessments of, 80–81
hydrocephalic, systemic anomalies in, 351
hydropic, with anemia due to parvovirus, 615
karyotype 45, X, 202
monosomy X
with cystic hygromas, 331
with multiloculated cystic hygromas, 331
Pentalogy of Cantrell, 301
previable
crown-rump length per developmental age in, 662
hand and foot length per developmental age in, 663
triploid, 199, 200
trisomy 21, with cystic hygromas, 331
umbilical cord, short: ultrasound, 307
vascular disruption in, 298
well-being of, sonographic assessments, 81–83
see also twins
fibroblastoma, giant cell: microscopic appearance, 559
fibrochondrogenesis
chondrocytes: high-power view, 405
described, 402
newborn with, 405
newborn with: radiograph, 405
resting cartilage, 405
fibromatosis
defined, 556
infantile digital, 556–557
fibroma, 558
microscopic appearance, 558
fibrosarcoma, congenital (infantile)
defined, 559
excised tumor, cut surface of, 558
lower extremity, 558
microscopic appearance, 558
fibrous hamartoma of infancy, 557–559
‘fifth disease,’ 615–616
finger rays, 10
fingers
amputated and constricted by amniotic bands, 306
bulbous fingertips, in Rubinstein-Taybi syndrome, 239
camptodactyly, in Seckel syndrome: ultrasound, 247
early, 12
hyperextensibility of, in Ehlers-Danlos syndrome, 267
middle, hypertrophy of, in neurofibromatosis, 255
overgrowth of, in Proteus syndrome, 264
overlapping (14-week fetus), 194, 195
syndactyly of second and third, 379
transverse reduction defects, 307
webbing of, in Ehlers-Danlos syndrome, 267
see also polydactyly
5p- syndrome. See Cri du chat syndrome (5p-)
flow velocity ratios, 319
fluorescent in situ hybridization technology, 181
focal dermal hypoplasia (Goltz syndrome)
aplasia of scalp, 244
bilateral facial clefts, 244
characteristics of, 244–245
child with lesions of aplasia and hypoplasia of the skin, 594
coloboma of iris, 594
defined, 594–595
extremity anomalies, 244
rib and vertebral anomalies: X-ray, 245
upper limb defects: X-ray, 245
folate antagonist embryopathy, 290–291
folic acid
antagonists of, 291
deficiency prevention, 290
deficiency’s effects, 290
developmental processes requiring, 290
food sources of, 291
preconception supplementation, 290, 291
foot
Apert syndrome, 376
club foot in 31-week fetus: 3D ultrasound, 224
development of, 16
edematous, monosomy X, 202
length
by week (8 to 26 weeks): mean values, 663
measurement of, 50
per developmental age in previable fetuses, 663
utility of, 50
monosomy X, typical appearance, 331
plantar furrows and malpositioned toes, trisomy 8, 197
Proteus syndrome: dorsal surface, 264
Proteus syndrome: sole, 264
rocker-bottom, trisomy 18, 194, 195
trisomy 21, 187
see also toes; polydactyly
foot plate, 10
foramen of Morgagni, 487
foramen ovale, 429
premature closure of, 429
in 30-week fetus, 430
forceps delivery, skull fracture from, 41
frontometaphyseal dysplasia, 434
Fryns (anophthalmia-plus) syndrome, 249–251
fungal infections, 620
funisitis, 176
galactosemia, 645–646
ß-galactosidase, deficient activity of, 644
gallbladder
absence of, external appearance, 503
choledochal cyst of, 503
developmental defects of, 502–503
left-sided, in situs inversus, 53
ganglioneuroblastoma from mediastinum: microscopic appearance, 561
gangliosidoses, 644
gangrene, neonatal, 305–307
gastrointestinal anomaly combinations and hereditary conditions, 122
gastroschisis
abnormalities associated with, 300, 510–511
apparent cause, 119, 300
axial image, 119
chromosomal abnormalities and, 511
defects in, 120
defined, 119, 299–300, 497
evaluation for, 120
illustrated, 498
incidence of, 119, 510
location of, 510
neonate with, 300
ultrasound of, 497
gastrulation, 25, 220–222
Gaucher disease
defined, 640–641
histiocytes in bone marrow aspiration, 643
typical cells, 643
genitalia
12th week, 12
26-week male: 3D ultrasound, 541
ambiguous
evaluation of neonate with, 531
external, syndromes with, 534
incidence of, 531
infant with congenital adrenal hyperplasia, 530
male, in Smith-Lemli-Opitz syndrome, 241
differentiation and morphogenesis flow sheet, 542
differentiation disorders schematic, 543
external
32-week fetus with CHARGE association, 59
abnormal, 531
discordance between karyotype and, 535
incision for removal with organ block, 59
normal development, 540
removal at autopsy, 59–60
syndromes with ambiguous, 534
gonadal ridge, bipotential, 535
hydroceles, bilateral: ultrasound, 539
hypospadias, 531
internal, 73, 531–539
double organs, 535
intersex abnormalities, definitions of, 537
normal male and female, 16 weeks: ultrasound, 541
ovotestis: microscopic section, 537
uterine fusion abnormalities, 535
vagina, atresia of, 535
see also cervix; gonads; ovaries; testes; uterus
genito-urinary anomalies and renal dysplasia, 519
germ layers, 3–6
gestational age
defined, 13
embryonic morphology by, 143–148
estimating, 310
estimations of, 139, 316
estimator of, crown-rump length as, 13, 84, 139
growth retardation and, 311
measurements used for estimating, 310
per growth stage, 2
relationship between biparietal diameter and, 675
ultrasound measurements, 2, 88–89
gestational sac
6-week, 144
abnormal characteristics, 98
βHCG levels and, 96–97
empty, 13, 15–16, 19
healthy, 97
sonographic view of, 143–144
villi in, 14–15
Glasgow chondrodysplasia, 420
glomerulocystic kidney disease, 524–525
ß-glucocerebrosidase deficiency, 640–641
glucocorticoid hormone biosynthesis and action, gene/gene products involved in, 536
glycogen storage diseases
summarized, 647
type I (von Gierke disease), 646
type II (Pompe disease), 435, 646–647
goiter, 114, 576
Goldenhar syndrome (oculoauriculovertebral dysplasia)
defined, 378–379
features of, 380
incidence of cardiac malformations in, 434
infant with, 379
pathogenesis of, 380
Goltz syndrome. See focal dermal hypoplasia
gonadal ridge, bipotential, 535
gonadoblastoma, 555–556
gonads
aneuploidal effects on, 185
dysgenesis of, types of, 538
embryonic development of, 530–531
removal at autopsy, 60
Gorlin syndrome (basal cell carcinoma syndrome)
clefting of face and cutis aplasia in, 385
clinical manifestations of, 267
cranium showing calcification of falx cerebri: X-ray, 266
defined, 266–267
granuloma
eosinophilic. See Langerhans cell histocytosis
pyogenic, 548
great vessels of the heart, 53, 121
see also transposition of great vessels
Greenberg dysplasia, 420
growth
assessing without gestational age, 139–140
cellular activity phases during, 138
disturbance of, 185
landmarks of early, 4
markers for, types of, 317
phases of, 311
restricted, early versus later, 138
stages of, 2
time periods, embryonic and fetal, 660
see also developmental stages; intrauterine growth retardation (IUGR)
growth disorganization
GD type II, 19–20
GD type III, 20–21
GD type IV, 15, 20
types of, 16–20
without chromosomal abnormalities, 20
growth plate
defined, 391
in asphyxiating thoracic dysplasia, type I, 406
short but histologically normal, 397
hamartomas
fibrous, of infancy, 557–559
mesenchymal
defined, 567
in newborn, gross appearance, 568
incidence of, 567
microscopic appearance, 568
presentation findings, 567
microscopic appearance, 259
hand plates, 10
Hand-Schüller-Christian disease. See Langerhans cell histocytosis
hands
14 week: 3-D view, 148
amputations from amniotic bands on, 306
brachysyndactyly in, 288
development of, 16
edematous, monosomy X, 202
left, second digit amputation, 71
left, with palmar crease abnormality, 71
length per developmental age in previable fetuses, 663
mitten: Apert syndrome, 376
monosomy X, typical appearance, 331
right, third digit partial amputation, 71
trisomy 21 hand: X-ray, 187
trisomy 8, 197
see also fingers; polydactyly
Hanhart anomaly, 227, 229
Hanhart-Möbius complex, 227
head
30-week fetus: sutures, normal, and anterior fontanelle: 3D ultrasound, 372
amniotic bands attached to, 305
Apert syndrome: X-ray, 376
axial view, 104
basic evaluation of, 104
bone-absent, in hypophosphatasia: radiograph, 414
cebocephaly, 191, 344
circumference. See head circumference
differential diagnostics of, 104–113
dimensions per fetal month, 669
distorted, 21
double-faced (diprosopus), 632
early, 12
ethmocephaly, 191
posterior, 123
posterior fossa view of, 110
shape, altered, 85
thoracic/head-circumference ratio, 127
head circumference
abnormalities, 109–110
crown-rump length and, 50
head-circumference/abdominal- circumference ratio, 140
head-circumference/femur-length ratio, 109–110, 132, 425
measurement method for, 51
heart
4-chamber sonographic view
24-week, 120
characteristics of, 128
features of, 464
obtaining, 128, 134
utility of, 128
5-chamber sonographic view
defined, 134–135
features of, 464
5-chamber in thoracopagus conjoined twins, 631
cardiac axis
abnormal, 127, 134
normal, 134
to the right, 134
conduction tissues examination, tissue blocks removed for, 61
coronary sinus, large, with persistent left SVC, 456
‘crossing’ views of pulmonary artery and aorta, 464
dissection and assessment of, 57–58
dysrhythmias, 136–137
pulse Doppler for, 66
epicardium, rhabdomyomas involving, 259
fetal activity, 13
fetal blood flow around, 429
great vessels, 53, 121
hypoplastic left, 73
in situ examination at autopsy, 54–58
interventricular septum, 134–135
left atrium morphology, 56
left coronary artery, anomalous origin of, 453
left ventricle
hypoplastic, 73
ultrasound with color Doppler, 439
morphology of, 59
non-compaction of, 459
with endocardial fibroelastosis, 452
left ventricular outflow view, 135, 464
lesions unidentifiable prenatally, 429
multivalvular, trisomy 18, 195
opening in situ, 57
perfusion-fixation at autopsy, 68
position abnormalities, 453–456
right atrium
dilated, in 28-week fetus: ultrasound, 432
morphology of, 55
right ventricle. See main entry
right ventricular outflow view, 464
rubella, malformations in congenital, 609
short axis great vessel view, 135, 464
situs abnormalities, 453–456
sonographic evaluation of, 127–128, 133–137, 460–467
tumors of, 570
valves in mucolipidosis II, 641
windowing at autopsy, 68–69
see also cardiovascular system; heart disease, congenital
heart disease, congenital
aneuploidy and, 129, 466
atrioventricular septal defect, prednisone and, 294
chromosomal abnormalities incidence with, 466
correction of, operative procedures for, 461
disorders associated with, 129
incidence of, 128–129
in multiple-malformation syndromes, 433
maternal illnesses role in, 128–129
medication and substance exposure associated with, 129
risk factors for, 465–466
risk of, disorders associated with, 128
screening tool for, 84
tachyarrhythmias and, 129
see also tetralogy of Fallot
heart tube, 6
heavy metals, 296, 297
hemachromatosis, neonatal, 652–653
hemangioblastomas, 573
cerebellar tumor: microscopic appearance, 573
hemangiomas
benign, 548
capillary, 548
microscopic appearance of, 547
cavernous, 548
microscopic appearance of, 547
cellular, 548
cervical, 114–115
complications possible with, 576
hepatic, 566–567
in newborn, 567
pyogenic granuloma, 548
shoulder and neck in newborn, 547
sonographic appearance of, 576
hematomas
retroplacental, 156
umbilical cord, 174
hemiazygos vein, large, 55
hemolytic anemic, immune, 40
hemorrhage
extraventricular, 33
intracerebral, 33
intraventricular, 33
lateral ventricular: CT scan, 33
petechial, 30–610
pulmonary, 484–485
retroplacental, 26, 155, 156
subgaleal, 41
see also fetomaternal hemorrhage
hepatitis viruses, 614–615
hepatoblastoma
characteristics of, 569
clinical conditions associated with, 568
conditions associated with, 567–569
cut surface from, 568
fetal pattern in: microscopic appearance, 568
incidence of, 567
hepatomegaly, 122, 280
hepatosplenomegaly, 280
hermaphroditism
pseudohermaphroditism, female, 536
types of, 537
hernias. See diaphragmatic hernias
heroin, clinical manifestations of exposure to, 295
herpes viruses
congenital
hepatocytes, intranuclear inclusions in, 612
intraepidermal vesicle with necrotic keratinocytes, 612
liver in, 611
newborn with, 611
skin section in, 612
simplex
abortus with, 612
congenital cause, 590
illustration, 281
incidence of, 590
skin: microscopic appearance, 591
type 2, 281–282, 611–612
vesicular skin lesions, 591
types of, 609–610
heterotopia of pancreas, 506
HHH disease, 648
H.I.E. (hypoxic ischemic encephalopathy), 36–37
Hirschsprung disease (aganglionic megacolon), 500
distended bowel loops in: X-ray, 500
myenteric plexus in, 502
histiocytoid cardiomyopathy, 457–458
histiocytosis X. See Langerhans cell histocytosis
HIV (human immunodeficiency virus), 616–617
lung in newborn with: microscopic section, 616
holoacrania, 338
holoprosencephaly
abnormalities associated with, 191–345, 362
alcohol consumption by mother and, 348
alobar, 182, 193, 213, 345
aneuploidy incidence with, 109, 362–363
brain in alobar, 193, 213
defined, 362, 383
development field, 346
development of brain with, 344
disorders encompassed by, 108–109
disorders present with, 362
etiology of, 348
facial defects in, 347
facial indicator of, 213
forms of, 345–348
genetics, 191–345
incidence of
general, 343–345, 362
in cases of diabetic mothers, 109, 348
in trisomy 13 and 18, 109, 362–363
lobar, 193, 345
monogenic syndromes with, 346
pathogenesis of, 343, 348
prognosis, 109, 362
recurrence rate, 363
spectrum cartoon, 191
spectrum drawing of, 344
spectrum in trisomy 13, 193
teratogenic causes, 348
types of, 362
Holt-Oram syndrome
cardiovascular defects and, 434
characteristic findings, 243–244
DE specimen with, 72
radial aplasia in, 243
Holzgreve syndrome, 434
HOMAGE syndrome, 434
homocystinuria, 637, 638
human development, periods in, 276
human immunodeficiency virus (HIV), 616–617
microscopic section of newborn lung with, 616
pneumocystis carinii in lung, 616
humerus
19-week, 122
as chromosomal aberration indicator, 425
shortening in trisomy 21, 132
Hurler disease
characteristics, 639
liver: microscopic section, 640
phenotypic appearance, 640
hyaline membrane disease, 482–484
development outlined, 483
gross appearance, 482
microscopic appearance, 482
pathogenesis of, 482
progression to bronchopulmonary dysplasia, 483
hydantoin embryopathy
hands of infant with, 288
incidence of cardiac malformations in, 434
hydantoin use, 466
hydatidiform mole
complete
findings with, 176–177
illustration, 176
incidence of, 176
ultrasound of, 176
complete/partial differential features, 177
partial, 177–178, 202
microscopic appearance of, 178
triploidy placenta with, 200
hydranencephaly, 282, 297
hydroceles, bilateral: ultrasound, 539
hydrocephalus
10-week ruptured ectopic pregnancy, 350
30-week, X-linked fetus, with micropolygyria, 351
cause, usual, 350
defined, 350, 379–381
disorders associated with, 351
ex vacuo, 350
extreme, in infant, 381
facial clefts and, 384
incidence of, 350
mild: sagittal image, 105
systemic anomalies in 30 fetuses with, 351
time of development, 350–351
hydrocephaly-VACTERL syndrome, 434
hydrolethalus syndrome
abnormalities included in, 245
appearance of newborn with, 358
base of skull with keyhole foramen magnum, 358
defined, 357
illustration, 245
keyhole foramen magnum in, 246
midline facial cleft with clefting of palate, 358
hydronephrosis. See kidneys
hydropic infants
anemic, 42
due to erythroblastosis fetalis, 325
laboratory studies in, 184–322
see also fetal hydrops
hydrops fetalis. See fetal hydrops
hydrothorax, fetal
bilateral: ultrasound, 330
cardiopulmonary hypoplasia due to bilateral, 330
causes of, 329
hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome, 648
hypertelorism
in Carpenter syndrome, 378
in Cri du chat syndrome, 199
in hydantoin syndrome, 288
in Opitz syndrome, 236
in Robinow syndrome, 236
in Saethre-Chotzen syndrome, 379
in triploid fetus, 199
in trisomy 13, 188
hypertensive disease, 30
hyperthermia, 278–279
hypoblast, 4
hypoglycemic neonate, 40
hypophosphatasia (congenital lethal type)
clinical features of, 414–415
defined, 413
head: radiograph, 414
incidence of, 424
metaphysis: photomicrograph, 414
neonate with, 414
pathological features, 415
pathology finding, 415
physeal growth zone in, 415
radiology findings, 415
scalp, reflected, 414
skull: ultrasound, 414
X-ray features, 415
hypoplastic left heart complex
18-week gestation: ultrasound, 452
20-week gestation: ultrasound, 452
diagram of blood flow in, 452
forms of, 451–452
great vessels with, typical appearance, 452
left ventricle with endocardial fibroelastosis, 452
hypospadias, 237, 531
hypotelorism, 191, 344
hypotonia in Zellweger syndrome infant, 249
hypoxemia, chronic, 312
hypoxic ischemic encephalopathy (H.I.E.), 36–37
I-cell disease. See mucolipidosis II
IBIDS (trichothiodystrophy), 586–587
ichthyosis
defined, 584–586
harlequin baby, 585
lamellar (collodion baby)
defined, 585
hyperkeratotic skin in: microscopic appearance, 585
illustrated, 585
major forms of, 586
simplex (vulgaris), 585
X-linked, 585–586
ileum, stenosis of, 492
immotile cilia syndrome, 484
immune hemolytic anemia, 40, 323
impetigo, 588–590
implantation
failure, 14
processes included in, 3–4
timing of, 2
incontinentia pigmenti, 584
infantile digital fibromatosis, 556–557
infants
achondroplastic (common dwarfism)
heterozygous newborn, 397
homozygous newborn, 397
asphyxiating thoracic dysplasia in neonate, 406
campomelic dysplasia in, 419
chondrodysplasia punctata, rhizomelic-type neonate, 417
fibrochondrogenesis in newborn, 405
growth-retarded, morbidity in, 311
hydropic anemic, 42
hydropic, laboratory studies in, 184–322
hyperthermic embryopathy, 278
hypoglycemic, of diabetic mother, 40
hypophosphatasia in neonate, 414
Kniest dysplasia in, 404
metatrophic dysplasia in newborn, 398
osteogenesis imperfecta type II in neonate, 412
osteogenesis imperfecta type III in neonate, 412
polycystic kidneys, infantile recessive, in newborn, 518
postmature, 32
Potter facies from renal agenesis, 516
short-rib polydactyly dysplasia in newborn, 409
short umbilical cord on, 307
spondyloepiphyseal dysplasia congenita in, 403
thanatophoric dysplasia in newborn, 395
varicella embryopathy, 282
very low birth weight, 33
infections
bacterial, 601–607
congenital
fungi, parasites, and protozoa associated with, 620
signs, symptoms, and findings associated with, 602
viral agents in, 608
fetal, routes of, 168, 601–602
fungal, 620
neonatal, 38
TORCH, 279–282, 606
viral, 608–617
see also specific infections and organisms
inferior vena cava, azygos continuation of, 455
inflammation, decidual, 165
influenza virus, 614
iniencephaly, 340–341
inner cell mass, 2
innominate vein, unidentified, 54
insulin growth factor, 310
intermediate atrioventricular septal defect, 438
interpupillary distances, 50
intersex abnormalities, definitions of, 537
intervillous fibrin deposition, 162–163
intervillous space
abnormal cells in, 163–164
immunofluorescent stain for immunoglobulin in, 163
sickled red blood cells in, 164
intervillous thrombus, 157
intestinal disorders
abnormalities from cystic fibrosis, 505
anorectal malformations, 497–499
anus, imperforate, types of, 498
atresias
abnormalities associated with, 492
ileal, 491
incidence of, 491
jejunal, 491
location most likely, 491
multiple bowel, 491
pyloroduodenal, 491
types of, 491–493
see also duodenal atresia
dilation, 509–510
duplications, 492–494
ileum, stenosis of, 492
malrotation, 494–495
in situs inversus, 53
meconium ileus, 499
rubella, malformations from congenital, 609
short bowel syndrome, 496
small intestine affected by cystic fibrosis, 507
twins, conjoined: barium injection, 631
vitellointestinal duct remnants, 495–496
types of, 495
see also Hirschsprung disease
intrauterine asphyxia
acute, 30
conditions associated with, 30
pathological changes over time from, 31
intrauterine growth retardation (IUGR)
asymmetric
defined, 312
hypoxemia-caused, 312
mechanism of, 311
symmetric versus, 311
causes summarized, 313
chromosomal factors in, 314–315
degrees of, and gestational age, 311
incidence in multiple pregnancy/stillbirth, 29
indicator of, 311
indices of, 317–318
infections associated with, 316
likelihood of identification, 183
markers for, sonographic, 318–319
maternal age and aneuploidy in, 315
multiple gestation and risk of, 316
potential causes of, 312–314, 316
risks associated with, 137
sonographic evaluation for, 137–140
symmetric
asymmetric versus, 311
defined, 312
normal 26-week fetus versus, 312
types of, 311–312
interventricular septum, 134–135
iron storage disease, 652–653
islet cell adenoma, 570
isochromosomes, 180
isotretinoin embryopathy
incidence per embryonic age, 287
manifestations of, 287, 289
outlined, 287
use rate with risk, 286–287
IUGR. See intrauterine growth retardation (IUGR)
Ivemark syndrome, 434
jaundice, assessment of, 52
jaw, prognathism of lower, 71
jejunal atresia, 120, 491
Jeune syndrome. See asphyxiating thoracic dysplasia
juvenile granulosa cell tumor
defined, 555
microscopic appearance, 557
photograph, 557
ultrasound, 557
kala-azar (visceral leishmaniasis), 618
Kartagener syndrome, 434, 484
karyotype 45 X fetus, 202
karyotype 47 XXY, 203
karyotype 69 XYY, 199
karyotypic evaluation
benefit of, 93
indicator for, 112
using chorionic villus sampling, 84
Kayser-Fleischer ring, 654
kernicterus, 42, 326
kidneys
abnormalities in
incidence of, 123–124, 539
syndromes often present with, 125
adysplasia of, hereditary
defined, 520
illustration, 520
microscopic section, 516
agenesis of
17-week fetus, 516
34-week gestation infant with Potter facies, 516
anomalies associated with, 515
cause of, 514
defined, 513
diagnosing, 126–127
incidence of, 514
sequence of events in, 516
unilateral, conditions associated with, 514
angiomyolipomas in tuberous sclerosis, 259
aplasia of
bilateral, 516
defined, 515
syndromes associated with, 514
congenital nephrotic syndrome
defined, 529–530
differential diagnosis, 529
kidney in: microscopic section, 528
lamina densa: electronmicroscopy, 528
cystic
in Smith-Lemli-Opitz syndrome, 241
in Von Hippel-Lindau disease, 260, 529
in Zellweger syndrome, 250, 653
cystic disease, hepatic fibrosis and, 518
cystic diseases of, classification of, 515
cystic tumors, 530
cysts associated with multiple malformation syndromes, 524
cytomegalovirus in tubular epithelial cells, 610
dilation, abnormal, 122–123
dimensions, 124
by gestational age, 539
dysplasia of
characteristics of, 518–520
diffuse, syndromes with, 520
genito-urinary anomalies and, 519
large kidney in Smith-Lemli-Opitz syndrome, 527
multicystic, 520
variants of, 520
ectopic, 513
function of, assessing, 124–125
antenatal, 541
fusion of, 515
glomerulocystic disease, 524–525
glomerulocystic, types of, 525
hereditary disorders affecting, 125
horseshoe
defined, 513
illustrations, 195, 515
types of, 514
hydronephrosis
causes, 521
congenital obstructive, microscopic appearance of, 521
defined, 520
incidence with other disorders, 522
possible predictor of, 125
sagittal image, 123
syndromes including, 521–522
with dilated ureters, 521
with huge, distended ureters, 523
with pelvic distension, 521
Meckel syndrome and
defined, 524–525
large kidney of newborn with variable-sized cysts
cut surface, 526
large cysts: ultrasound, 526
microscopic appearance, 526
medullary cyst disease, 524
medullary cystic, 524–525
medullary cysts, 524
kidneys
medullary sponge, 524
multicystic disease
causes of, 126
characteristics of, 126
gross appearance, 519
incidence of, 126
micromulticystic kidney in trisomy 13, 521
microscopic appearance, 519
multicystic dysplastic kidney (MCDK), 126
ultrasound of kidney, 519
with atretic ureter, 520
nephroblastomatosis, 566
normal sonographic appearance of, 124
pelvic dilation, 521, 540–541
polycystic disease
adult
cysts in, 518
defined, 125–126, 518, 541
diagnosing, 518
gene location on chromosome 16, 518
incidence of, 518
kidney in adult, 519
variably-sized cysts in newborn, 519
dominant, genetics of, 518
infantile recessive
common presentations, 126
cut surface, 517
defined, 125–126, 515–518
external appearance, 517
hypoplastic lungs in case of, 474
liver in case of, 517
microscopic appearance, 517
newborn infant with, 518
outline of, 516
sonographic evaluation of, 542–544
ultrasound of, 517
postnatal compromise of, frequency of, 539
right, absence rule-out DE specimen, 73
sizes during development, 124
sonographic evaluation of, 85, 539–545
trisomy 13, 190
tubular dysgenesis, congenital, 528
tumors, classification of fetal and newborn, 566
see also specific disorders, and renal and nephr- entries
kleeblattschädel. See skull, cloverleaf
Kleihauer-Betke test, 29–30
Klinefelter syndrome
abnormality associated with, 185
defined, 203–204
testes in, 203, 204
Klippel-Feil syndrome, 434
Kniest dysplasia
cartilage fibrils: scanning electronmicrograph, 404
cartilage in, 404
chondrocytes in, 404
defined, 400
enlarged metaphyses of limb bones: radiograph, 404
severe form
in infant, 404
outlined, 404
kyphomelic dysplasia, 418
Langerhans cell histocytosis
Birbeck bodies: electronmicrograph, 599
defined, 598–599
infant with generalized papular rash, 599
infiltrate of histocytes and eosinophils: microscopic section, 599
skull showing punched-out lesions: X-ray, 599
large for gestational age (LGA), 13
Larsen syndrome, 418, 434
laryngeal cleft, 470
laryngeal papillomas, 488
laryngeal stenosis, 470, 471
laryngotracheal papillomatosis, 488
larynx, hypoplastic, with laryngeal cleft, 471
Laurence-Moon-Bardet-Biedl syndrome, 434
Lazjuk syndrome, 434
lecithin/sphingomyelin ratio, 470
left atrium morphology, 56
left ventricle
hypoplastic: ultrasound with color Doppler, 439
morphology of, 59
non-compaction of, 459
with endocardial fibroelastosis, 452
leg, constriction from amniotic bands, 306
Leiner disease (desquamative erythroderma), 580
leiomyomatosis, lung, in tuberous sclerosis, 260
lens placodes, 10
LEOPARD syndrome, 596
leprechaunism, 242–243
Lesch-Nyhan syndrome, 654
lesions filled with macerated brain, 70
lethal brittle bone syndrome, 420
Letterer-Siwe. See Langerhans cell histocytosis
leukodystrophy, metachromatic, 644
leukomalacia
perivascular (PVL), 37
periventricular, 36
LGA (large for gestational age), 13
limb buds, 145
limb-reduction defects. See limbs
limb-shortening, syndromes associated with, 131–132, 423–424
limb/body wall defects
defined, 298–299
diagnosis of, 299
etiology of, 299
gastroschisis versus, 299
groups of, 299
incidence of internal anomalies with, 299–300
limbs
amelia of upper (maternal diabetes), 296
defects from maternal use of sympathomimetic drugs, 293
femora, bulbous ends of, 398
femur, distal, in Zellweger syndrome: X-ray, 249
humerus and ulnar fused with bony spur: X-ray, 293
leg, constriction from amniotic bands, 306
reduction defects
after maternal LSD use, 292
defined, 298
transverse, 423
types of, 422–423
short, malformed, in Roberts syndrome, 238
sonography of, 131
upper, from DE specimen, 71
linear sebaceous nevus syndrome, 594
lipoblastoma, 559–560
lips
bilateral cleft, 190, 191, 369
cleft
bilateral, 383
from amniotic bands, 305
in infant of diabetic mother, 296
incidence by race, 367
incidence of variations in, 367–368
pathology, 368
unilateral, 368
coronal image, 108
everted, in Williams syndrome, 243
mucosal neuromas of, in MEN type 2B, 273
premaxilla, protrusion of, 190
premaxillary aplasia, 191
upper, 10, 286
lissencephaly
malformation syndromes associated with, 354
partial, 286
Type I, 354
Type II (Walker-Warburg syndrome), 354–355
Type III, 355
X-linked, 355
Zellweger syndrome, 250
Listeria coccobacilli, 160
Listeria monocytogenes, 603
listeriosis, 603
lithium use, 129, 466
livebirth defined, 32
liver
bile ducts
dilatation of, 503
dilated serpiginous in fibrotic stroma, 517
dissection of, 503
extrahepatic, atresia of, 501, 505
intrahepatic, paucity of, 504
cirrhosis
alpha1 antitrypsin, 502
Wilson disease, 654
Zellweger syndrome, 250
cut surface: case of adult polycystic kidneys, 519
cut surface, in Zellweger syndrome, 250
cystic spaces: case of infantile polycystic kidneys, 517
cysts, multiple, 503
developmental defects, 500
enlarged, 122
erythroblastosis fetalis: microscopic appearance, 326
fibrosis, cystic disease and, 518
hemangioma of, 566–567
in newborn, 567
hematocytes
alpha1 antitrypsin globules in, 502
giant cell transformation of, 196
hepatosplenomegaly, 280
herpes, with multiple abscesses, 611
intrauterine disease of, 652–653
lobulation, abnormal, in trisomy 18, 502
metabolic disorders, special investigations in, 501
midline, in 14-week asplenic fetus, 454
mucopolysaccharidosis I: microscopic section, 640
neuroblastoma in stage IV-S, 562
staphylococcal septicemic abscesses of, 602
symmetrical, in situs inversus, 53
trisomy 18: microscopic section, 196
tuberculosis, congenital, with, 606
tumors of, 566–569
twin-to-twin transfusion recipient: ultrasound, 626
Zellweger syndrome manifestations in, 250, 653
see also specific disorders, and hepatic entries
long bones. See skeletal system
long QT syndrome, 459–460
LSD (lysergic acid diethylamide) embryopathy, 292, 293
lung cultures, 53
lungs
arteriovenous malformation, 485
bilateral, eparterial trilobed, 455
bronchi, dilated, in bronchiectasis: cut surface, 484
Candida septicemia, necrotizing lesions from, 619
conditions impeding development of, 474
cystic adenomatoid malformation, 475–478
cytomegalovirus in alveolar lining cells, 610
development of
10 weeks gestation (glandular stage), 474
20 weeks gestation (canalicular stage), 474
28 weeks gestation (saccular stage), 474
examination in situ, 54
HIV infection, microscopic section of newborn lung with, 616
hypertension. See pulmonary hypertension
hypoplastic: in infantile recessive polycystic kidney disease, 474
lobe irregularities, 474–475
maturity, indexes of, 470
pneumocystis carinii in, 616
sonographic appearance of, 127
staphylococcal septicemic abscesses of, 602
surfactant, deficiency of, 482–484
trilobed, symmetrical, in asplenia, 475
see also pulmonary entries
lupus erythematosus
abortions and, 157
placenta from mother with, 163
placental abnormalities due to, 164
stillbirths and, 30
lyme disease (borreliosis), 618–619
lymphangiomas, 551
microscopic appearance of, 551
of neonatal mesentery, 551
lymphatics, thoracic, filled with macerated brain, 70
lysergic acid diethylamide (LSD) embryopathy, 292, 293
lysosomal lipid storage diseases, 640–642
maceration
characteristics of, 26–27
degrees of, 27
fetal, 26
in 16-week fetus, 69
in 17-week fetus, 70
in 21-week fetus, 70
timetable of changes due to, 28
major basic protein, 159
malaria, 618
malformation syndrome, 211, 228
malformations
blastogenetic, 207
defined, 207, 211, 227
mild, 207
versus minor anomalies, 213
organogenetic, 207
periods of origin, 207
timing of, 210
mandibulofacial dysostosis. See Treacher Collins syndrome
Marden-Walker syndrome, 434
Marfan syndrome
aorta dissection in, 262
aortic wall dissection, 263
characteristics of, 261–262
clinical manifestations of, 263
cystic medionecrosis in, 263
diagnostic criteria for, 263
eye lens dislocation in, 262
phenotypic manifestations of, 263
marijuana
clinical manifestations of intrauterine exposure, 296
use during pregnancy, 296
maternal floor infarction
defined, 163
disorders associated with, 26
effects of, 26, 158–159
illustrations, 159
incidence of, 26
recurrence of, 159
stillbirth rate from, 26
maturity, estimating fetal, 310
MCAD (medium-chain acyldehydrogenase deficiency), 649
Meckel diverticulum, 495–496
Meckel syndrome, 122, 232, 357
Meckel syndrome
clinical manifestations, 231, 524–525
CNS anomalies, 231
cystic kidneys in
in newborn, 526
in opened abdomen, 232
microscopic appearance, 232
surface of, 232
defined, 231, 524
genitourinary anomalies, 233–234
incidence of, 231, 524
incidence of cardiac malformations in, 434
occipital encephalocele close-up, 232
occipital encephalocele, polydactyly, and large abdomen, 231
rule-out DE specimen, 72
meconium
aspiration of, 40, 481
detection of, 51–52
from 39-weeks-gestation stillborn, 51
in cystic fibrosis, 491
in umbilical cord, 176
in utero evacuation of, 167
timing of adverse effects from, 167
meconium ileus, 499
meconium peritonitis, 118, 509
meconium plugs, 118, 509
meconium staining, 166–167, 176
mediastinum, ganglioneuroblastoma from: microscopic appearance, 561
medication and substance exposure
amphetamine use, 129, 466
cocaine use
embryopathy from, 295
stillbirths and, 30
congenital heart disease and, 129
diphenylhydantoin use, 129
heavy metals, 296, 297
hydantoin use, 466
lithium use, 129, 466
marijuana
clinical manifestations of intrauterine exposure, 296
use during pregnancy, 296
prednisone use
atrioventricular septal defect associated with, 294
results of first trimester use, 294
stillborn with cleft lip and palate from, 294
prescribed drugs and their effects
Primatene, embryopathy after maternal use of, 293
progestin, synthetic, 292–293
retinoic acid use, 129
sex steroid use, 129, 466
sympathomimetic drug use
embryopathy from, 292
limb defects from, 293
tetracycline use, 291–292
trimethadione use, 466
valproic acid, 287
Vitamin A, 286–288
Vitamin D, 288
see also alcohol use; fetal alcohol syndrome; isotretinoin embryopathy; opiates; thalidomide; toluene embryopathy; Warfarin embryopathy
medium-chain acyldehydrogenase deficiency (MCAD), 649
medullary cyst disease, 524
medullary cysts, 524
medulloblastoma
defined, 573
midline cerebellar tumor, 574
electronmicrograph of, 574
microscopic appearance of, 574
pseudorosettes around blood vessels: microscopic appearance, 574
megalencephaly, 357
melanocytic lesions, 595–596
melanotic neuroectodermal tumor of infancy, 564
MEN. See multiple endocrine neoplasia
meningiomas in Proteus syndrome, 264
meningocele, 341
meningomyelocele
14-week fetus, 342
calipers delineating, 103
defined, 341
lumbosacral area, 103
‘question-mark’ incision surrounding, 65
ruptured, in 20-week fetus, 342
ultrasound of, 342
Menkes Kinky Hair syndrome
characteristics of, 246, 586–587
hair showing pili torti, 587
infant with, 246
scalp and hair in, 587
Menkes syndrome (Xq13), 655
meroacrania, 338
mesoderm, 3–6
metabolic disorders, 635–655
diagnosis of, tissues used for, 637
inherited: placental pathology, 636
neonatal death and, 42
metal metabolism disorders, 652–655
metatrophic dysplasia, 396, 398
methotrexate, 96–97, 290–291
micrencephaly, 355
microcephaly
13-gram brain, 356
41-day embryo with, 356
as marker for underlying conditions, 109
causes, 363
chondrodysplasia punctata, rhizomelic-type neonate, 417
classification of, 356
defined, 355
fetal alcohol syndrome infant, 286
in Rubinstein-Taybi syndrome, 239
in Smith-Lemli-Opitz syndrome, 240
incidence of, 355, 363
incidence of karyotypic abnormalities with, 110, 363
isolated, 356
measurements determining, 109–110, 363
primary, 355
secondary, 356
toluene embryopathy, child with, 294
‘microgastria-limb reduction’ complex, 434
micrognathia
in Smith-Lemli-Opitz syndrome, 240
in trisomy 18, 194
microgyria
30-week, X-linked hydrocephalic fetus, 351
defined, 356
polymicrogyria, 196, 351, 353
midline, 209–213
milia, 579
miliaria
defined, 579
miliaria crystallina, 579–580
miliaria rubra, 579
milium, 580
Miller-Dieker syndrome, lissencephaly type II in, 354
mineralocorticoid hormone biosynthesis and action, gene/gene products involved in, 536
miscarriage. See abortion, spontaneous
mitochondrial abnormalities, 651–652
classification of, 651
mitral valve
defect forms, 449–450
dysplasia, 432
monosomy X. See Turner syndrome
monotopic field defect, 211, 212
morphogenesis
definitions in abnormal, 211
types of problems in, 212
morphology and cytogenetic abnormalities, 19
morula, 1
mucolipidoses (MPS), 639–640
mucolipidosis II (I-cell disease)
characteristics of, 639–640
child with Hurler-like features, 641
cultured fibroblasts: phase microscopy, 640, 640
fetal ascites in, 328
heart valves in, 641
placenta: microscopic section, 641
mucopolysaccharidoses, 635–639
multicystic dysplastic kidney (MCDK), 126
multiple endocrine neoplasia
clinical manifestations of, 270
genetics of, 270–273
lip mucosal neuromas in, 273
pathology per organ in
MEN 1, 271
MEN 2A, 271
MEN 2B, 272
thyroid carcinoma in, 272, 273
multiple hamartoma (Cowden disease) syndrome, 273–274
multiple pregnancy
abnormalities, 29–30, 169–170
intrauterine growth retardation risk and, 316
markers for, 318
multiples beyond four, 627
sonographic evaluation of, 87–88
‘twin-peak’ sign of, 88
see also twins
multiple pterygia (fetal akinesia), 224, 598
MURCS association, 217
Mycobacterium tuberculosis, 606
Mycoplasma hominis, 603
myelocele, 341–343
myelomeningocele. See meningomyelocele
myofibromatosis
benign myofibroblasts: microscopic appearance, 558
defined, 556
dense fibrous lesion, 558
myxopapillary ependymoma, 574
nasal pits, 10
NCL. See neuronal ceroid lipofuscinosis (Batten disease)
neck
differential diagnostics of, 113–115
goiter, 114, 576
hemangiomas, 114–115
masses on, 576
normal: sagittal image, 188
teratomas, 115, 576
see also cystic hygroma; nuchal
necrotizing enterocolitis
bacteria common in, 38
characteristics of, 499–500
clinical manifestations, 37–38
illustrated, 500
incidence, 37
pathogenesis of
resected bowel segment, 37
stages of, 37
neonatal death
causes by frequency, 34
causes from congenital anomalies/birth defects, 35
conditions leading to, 36–42
defined, 24, 32
low birth weight and, 33
prematurity and, 32–36
risk factors for, 35
see also perinatal death
neonatal pustular melanosis (NPM), 588–589
nephroblastomatosis, 566
nephrotic syndrome, congenital. See congenital nephrotic syndrome
nerves, peripheral, resected hypertrophied, 255
nervous system. See central nervous system
nesidioblastosis, 570
microscopic appearance, 570
neural folds, 6
neural groove, 5–6
neural plate, 5
neural tube
4th-week configuration, 6
8th week coronal scans, 146
anomalies, risk screening for, 93
closure sites, 336
defined, 6
disorders of, 85
formation of, 335–336
ONTD (open neural tube defect)
causes of, 338
long lumbar sacral, 342
lumbosacral, 103
thoracolumbar, 342
sonographic markers of disorders of, 116
neuroblastoma
adrenal gland, hemorrhagic, necrotic, 560
characteristics of, 560–562
etiology, 546
ganglio-, from mediastinum: microscopic appearance, 561
immunofluorescence of, 562
in placental capillaries, 164
in situ: microscopic appearance, 561
liver in stage IV-S, 562
microscopic appearance of, 164, 560
neurosecretory granules: electronmicrograph, 562
primary sites of, 560
skin lesions with ‘blueberry muffin’ appearance, 562
neuroectodermal tumors
melanotic, of infancy, 564
pigmented retinal anlage
gross appearance, 564
microscopic appearance, 564
primitive (PNET), 563, 573
neurofibroma
cut surface of, 255
defined, 556
gross appearance, 557
microscopic appearance, 557
multiple, of spinal cord nerves, 255
neurofibromatosis (von Recklinghausen disease)
café-au-lait lesion, 255
characteristics outlined, 257
lisch nodules in iris, 255
middle finger hypertrophy, 255
multiple, of skin, 255
nerves, resected hypertrophied, 255
neurofibroma, cut surface of, 255
spinal cord with neurofibromas, 255
spindle cells: microscopic appearance, 256
Type 1, 254–257
Type 2, 256–257
Type 3, 256
Type 4, 256
types of, 254–256
neuronal ceroid lipofuscinosis (NCL) (Batten disease)
clinical and neurophysiological features of, 646
defined, 645
heart showing curvilinear bodies: electronmicrograph, 645
nevus
blue, 595
histologic appearance, 595
congenital giant hairy, on trunk of newborn, 596
sebaceous of Jadassohn, 593
newborn screening, disorders detected by, 636
Niemann-Pick disease, 641–642, 644
nipples, 12
Noonan syndrome, 435
nose
anteverted nares, in Williams syndrome, 243
coronal image, 108
depressed bridge, 289
hypoplasia of, 289
nostril formation, 10
notochord, 5
NPM (neonatal pustular melanosis), 588–589
nuchal fold
sonography of, 364
thickness and cystic hygroma, 333
thickness as screening tool, 84
thickness measurement, 148
thickness of, 112–113, 148–149
translucency in 14-week trisomy 21 fetus, 188
translucency measurement, 148
nucleated red blood cells (NRBC), 160
nutritional supplementation: folic acid, 290, 291
occipital diastasis, 40–41
occipital encephalocele, 64
occipital horn syndrome, 270
occipitofrontal diameter, growth evaluation, nomogram for, 674
oculoauriculovertebral dysplasia. See Goldenhar syndrome
OFD (occipitofrontal diameter), growth evaluation, nomogram for, 674
olfactory bulb and tracts, isolated absence, 347
oligohydramnios
anomaly associated with, 321
associated complications, 90
criteria for, 90
danger of week-long, 36
illustration, 225
post-term, 90
renal agenesis and, 515
severe, 126–127
omodysplasia, 420
omphalocele
aneuploidy and, 121, 511–512
categories of, 511
characteristics of, 120–121
defined, 496
findings, 511
incidence of, 120, 511
prognosis, 511
short umbilical cord with, 174, 307, 496
survival rate, 121
ultrasound of, 497
well-circumscribed: sagittal image, 120
opiates
abstinence from, syndromes resulting from, 295
annual fetal exposures to, 295
clinical manifestations of intrauterine exposure to, 295
examples of, 294
pathogenic mechanisms of neurologic toxicity from, 295
postnatal symptoms after prenatal exposure to, 295
Opitz-Frias ‘G’ syndrome, 435
Opitz syndrome
characteristics of, 237
dissected tracheo-bronchial tree, 237
hypertelorism, 236
hypoplastic larynx with laryngeal cleft in, 471
hypospadias, 237
organogenesis
anomalies of, versus blastogenetic anomalies, 222–223
summary of, 3
oro-facio-digital syndrome, type I, 435
Osler-Weber-Rendu disease (familial hemorrhagic telangiectasis), 484–485
osteochondrodysplasias
diagnostically convenient groups of, 391
generalized, list of, 390
miscellaneous, 415–420
revised international classification of, 391
short-rib, 409
short trunk, 396–402
unclassified autosomal recessive, 420
with abnormal bone density, 410–415
with platyspondyly, 391–396
characteristics outlined, 394
classification of, 393
forms of, 394–396
radiograph, 185
severe, radiograph of, 398
osteogenesis imperfecta
classification of, 410
clinical features, 411
defined, 410
incidence of, 424
pathological features
radiological features, 411
Type II (OI congenita, OI fetalis, Vrolik disease), 411
calvaria, 412
calvaria: microscopic section, 412
CNS abnormalities in, 411
femoral fracture: ultrasound, 412
femur and humerus, 412
multiple rib fractures, 412
neonate with multiple fractures, 412
pathology of, 411
radiograph after exhumation, 412
Type III infant, 412
types of, 410–411
ostium primum atrioventricular septal defect, 437–438
ostium primum defects, 436–438
ostium secundum defects, 436, 438
otic pits, 8
otocephaly
abnormalities associated with, 214
defined, 213–214
illustrations, 214, 383
incidence of, 214
pathogenesis of, 216
ova, fertilized, 14
ovaries
juvenile granulosa cell tumor, 555
papillary cystadenoma, in Proteus syndrome, 264
streak, 539
tumors of, childhood, 551
yolk sac tumor of, 555
ovotestis: microscopic section, 537
ovum, blighted, 13, 15–16
oxalosis, primary, 652
oxycephaly, 371, 372
pachygyria
defined, 356–357
in child with tuberous sclerosis, 357
in Seckel syndrome, 247
in Zellweger syndrome, 250
Pallister-Hall syndrome
characteristics of, 265–266
clinical manifestations of, 266
hamartoblastoma at base of brain, 266
postaxial polydactyly, 266
pancreas
annular, 506
cystic fibrosis of, 506
cysts of, 505
ducts affected by cystic fibrosis, 507
heterotopic, 506
in infant of diabetic mother, 507
islet cells, microscopic appearance, in Smith-Lemli-Opitz syndrome, 242
Schwachman-Diamond syndrome, 506
pancreatic adenoma, 570
pancreatic islet: cytomegaly: microscopic appearance, 200
pancreatic tumors, 570
pancreatoblastoma, 570
parvovirus B19, 615–616
bone marrow with, 616
hydropic fetus with anemia due to, 615
intranuclear inclusion: microscopic view, 616
placenta of hydropic infant with, 615
patent ductus arteriosus, 440–441
Pena-Shokeir I syndrome, 224, 435
Pena-Shokeir II syndrome, 224
Pentalogy of Cantrell
characterized by, 300–301
defined, 122
fetus with, 301
incidence of cardiac malformations in, 433
perinatal death
by weight and age, 24
defined, 23–24
see also fetal death; neonatal death; stillbirths
periventricular leukomalacia, 36
peroxisomal diseases, 652
persistent left superior vena cava. See superior vena cava, persistent left
illustrations with posterior view of, 456
large coronary sinus in heart with, 456
with absent innominate view, 456
with hypoplastic innominate vein, 456
Peter-plus syndrome, 435
PFD (polytopic developmental field defect), 211, 212, 217
Pfeiffer syndrome
cloverleaf skull in, 377
defined, 376
features of, 378
phenylketonuria, embryopathy from, 293
pheochromocytoma in von Hippel-Lindau disease, 261
philtrum, long, 286
phocomelia, 284
physis, 391
Piepkorn lethal osteochondrodysplasia, 420
Pierre Robin sequence, 219–220
pituitary, removal at autopsy, 65
placenta
abnormalities in diabetic mother, 39
abnormalities of, fetal death and, 23–26
abruption of, 26, 36, 156
abscesses, micro, from Listeria, 160
amniotic bands attached to, 305
bilobate, 154
changes in
bleeding, 156
from prematurity, 46
from stillbirth, 46
grades of, 89
post-fetal-death, 45–46
chorangiomas, 162
circummarginate, 169–170
circumvallate, 169–170
color, abnormal, 152–154
cytotrophoblast persistence, 42
depth of, 89
disc abnormalities, 26
erythroblastosis fetalis: microscopic appearance, 325
examination at autopsy, 46
finger attached to, 303
hematoma behind, 156
hydropic, 159, 629
infarction of, 26, 157–158
cut section: history of smoking, 158
cut section: preeclampsia, 158
extensive, 157
ischemia with, 158
microscopic section, 158
infarcts on surface, 157
ischemia with infarcation, 158
large, causes of, 154
location of, 89
low-lying, 89
lupus, of maternal, 163
maternal surface, fibrin-covered, 159
maturation, abnormal, 161
membranes
membrane roll, with cross section, 151
parts of, 165
premature rupture of, 32–36
mucolipidosis II: microscopic section, 641
multiple pregnancy, 623
neuroblastoma in capillaries, 164
post-fetal-death: microscopic appearance, 46
quadruplet
8–10 weeks: 4 sacs: ultrasound, 630
fused, 630
quintuplet, 630
shape, abnormal, 154
situs of, abnormal, 89
sonographic evaluation of, 89
succenturiate lobe, 154
syphilis of, 161
triplet
monoamniotic, monochorionic, with single sac, 630
triamniotic, trichorionic, fused, 630
triplet-sac, with a vanishing fetus, 628
twin
diamnionic, dichorionic: microscopic section of dividing membranes, 624
gestation monozygosity in diamniotic dichorionic, 170
membrane between, 170
types in monozygotic, 622–623
vanishing: the viable, and the small, 629
see also twin-to-twin transfusion
weight
abnormal, 152
normal, 8 to 18 weeks, 152
ratio, placenta:fetus, by age, 152
singleton placentas, 152
twin placentas, 153
placenta accreta, 155
placenta increta, 155–156
placenta membranacea, 154–155
placenta percreta, 155–156
placenta previa, 89, 156
placental evaluation, indications for, 151
placental examination
gross, 150–151
umbilical cord, 151
microscopic, 151
inflammation, 151
membranes, 151
villi, 151
placental insufficiency, 32
placental mosaicism
causes of, 204
incidence of, 29, 204
patterns of confined, 205
types of, 204–205
placental parenchyma, 150
placental ultrasound, 153
placentomegaly
causes of, 154
immune hemolytic anemia and, 323
plagiocephaly, 372
pleurosomas, neonate with, 300
PNET (primitive neuroectodermal tumor), 563, 573
pneumocystis carinii in newborn lung with HIV, 616
pneumonia
adenoviral, 616
etiology, 486
intrauterine, 486, 603
transplacental, 486
viral, 486
pneumonitis of infancy, chronic, 485–486
pneumothorax, 53
poikiloderma congenitale (Rothmund- Thomson syndrome, congenital cutaneous dystrophy), 594
poliomyelitis, 614
polydactyly
association with other anomalies, 423
in syndromes that may be diagnosed prenatally, 424
in trisomy 13, 188
post-axial, 190, 266
polyhydramnios
amniotic fluid index level for, 90
anomalies associated with, 90, 321
causes of, 90, 321–322
defined, 321
disorders possible with, 104
incidence of, 321
sagittal image, 88
polymicrogyria, 196, 351, 353
polyphenotypic tumor
blue cells, undifferentiated, microscopic appearance, 563
defined, 563
forearm in newborn, gross appearance, 563
orbit in newborn, 563
polyploidy, 102
polysplenia, 454–456
polytopic field defect (PFD), 211, 212, 217
Pompe disease, 435, 646–647
Ponderal index, 318
poor fetal outcome, maternal risk factors for, 35
popliteal pterygium (Batsocas-Papas syndrome), 251–252
porencephalic cysts
coronal section, 36
following H.I.E.: ultrasound, 36
porencephaly, 37
postmature infants, 32
postmaturity, 32, 34
Potter facies, infants with
from oligohydramnios, 516
from renal agenesis, 516
Potter sequence, 90, 123, 218–219
Prader-Willi syndrome, 435
prednisone use
atrioventricular septal defect associated with, 294
results of first trimester use, 294
stillborn with cleft lip and palate from, 294
pregnancy
early, critical landmarks in, 95–96
ectopic
day 17, 5
early, βHCG levels and, 97
intrauterine co-existence with, 97
ruptured at 10 weeks, hydrocephalus in, 350
sonographic identification of, 96
first sonographic evidence of, 96
intrauterine
early indicator of, 13
ectopic co-existence with, 97
sonographic exclusion of, 97
molar, 176–178
nonviable, indicator of, 13
normal likelihood, βHCG level and, 96–97
trisomic, prenatal identification of, 183
see also multiple pregnancy; twins
pregnancy dating, 138
premature rupture of membranes (PROM), 32–36
prematurity
abnormalities from diabetic mother, 39
defined, 32
incidence in U.S., 32–33
by race, 32–36
major complications, 32
placental changes with, 46
risk factors for, 33, 35
premaxilla, protrusion of, 190
prenatal diagnostic screening, sonographic
controversial nature of, 90
epidemiological factors in, 91
factors affecting sensitivity of, 90–91
patients appropriate for, 92
risk adjustment after, 92
value of routine, survey of, 91–92
Primatene, embryopathy after maternal use of, 293
primitive neuroectodermal tumor (PNET), 563, 573
primitive streak, 4–5
products of conception, examination of, 13–16
progestin, synthetic, embryopathy from, 292–293
PROM (premature rupture of membranes), 32–36
prostate in obstructive uropathy, 522
Proteus syndrome
brain abnormalities in, 265
clinical manifestations of, 264
defined, 262–265
feet: dorsal surface, 264
fingers, overgrowth of, 264
foot, sole of, 264
meningiomas in, 264
neoplasms in, 265
ovarian mucinous cystadenoma: microscopic section, 264
ovarian papillary cystadenoma, 264
possible findings in, 265
prune belly sequence/syndrome
32-week fetus: dilated bladder and ureters, 524
cause of, 328
defined, 219, 523
features of, 523–524
illustration, 524
incidence of, 219, 523
infant with, 220
manifestations of, 435
pseudohermaphroditism, female, 536
pseudotrisomy 13, 435
pterygia
elbow, in Batsocas-Papas syndrome, 252
multiple (fetal akinesia), 224, 598
pulmonary arteriovenous fistula, 484–485
pulmonary artery and aorta
‘crossing’ views of, 464
opened, 441
pulmonary atresia, 448, 450
pulmonary hemorrhage, 484–485
pulmonary hypertension
grading of, 485
primary, 485
secondary, 485
pulmonary hypoplasia
assessment, criteria for, 473
cause of, 474
developmental phases, 473
pulmonary interstitial emphysema, 480
pulmonary lymphangiectasis, congenital, 478
gross and microscopic appearances, 479
pulmonary sequestration
anomalies associated with, 480
cause of, 131
defined, 130–131, 478
extralobar, 131, 478–480
intralobar, 131, 478–479
microscopic appearance of, 479
sonographic appearance, 131
pulmonary stenosis with intact ventricular septum, 448, 450
pulmonary venous connections
assessing at autopsy, 55
evaluating with pulse Doppler, 137
partial anomalous, 445
total anomalous, 445, 455
purine metabolism defects
pustular melanosis, neonatal (NPM), 588–589
PVL (periventricular leukomalacia), 37
pyelectasis, 124–125
pyloric stenosis
barium swallow X-ray, 492
gross appearance, 492
pyogenic granuloma, 548
Q-fever, 618
quadrigeminate plate, 351
quadruplets
birth weights, range of mean, 627
gestational age at delivery, mean, 627
gestational complications, 626–627
incidence of, 626
neonatal morbidity, 627
placentas
8–10 weeks: four sacs: ultrasound, 630
fused, 630
zygosity, 626–627
‘question mark’ incisions, 64, 65
quintuplet placenta, 630
radial aplasia, 243, 420, 422–423
radial hypoplasia, 420, 422
radiation, teratogenic effects of, 278
RADIUS study, 91–92
Raine syndrome
bone trabeculae and periosteum, 421
defined, 420
unique facies, 421
renal adysplasia, hereditary
defined, 520
illustration, 520
microscopic section, 516
renal cystic diseases, classification of, 515
renal dysplasia, 518–520
renal-hepatic-pancreatic dysplasia, 435
renal pelvis, 124
renal tubular dysgenesis, congenital, 528
resistance index, 79
respiratory tract, development of, 472
restrictive dermopathy. See dermopathy, restrictive
Retin A, 287
retinal dysgenesis, 193
retinal pigment
early, 10
stage of initial appearance, 10
retinoblastoma
characteristics of, 564
Flexner-Winterstein rosettes in: microscopic appearance, 564
forms and etiology of, 564
incidence of, 564
large tumor in newborn’s enucleated eye, 564
ophthalmoscopic appearance, 564
retinal dysgenesis with, 193
retinoic acid, maternal use, 129
rhabdoid tumors
atypical
defined, 575
microscopic appearance, 575
overview, 575
positive for epithelial membrane antigen immunostain, 575
defined, 566
illustrated, 567
intermediate filament whorls: electronmicrograph, 567
rhabdomyomas, fetal
defined, 548
involving epicardium, 259
multiple cardiac in newborn with tuberous sclerosis, 548
‘spider’ cells: microscopic appearance, 259, 548
rhabdomyosarcomas
alveolar
defined, 549
electronmicrograph of, 550
microscopic appearance of, 550
bone marrow aspirate with cells of, 550
botryoid
clusters from neonatal vaginal orifice, 550
defined, 549
microscopic appearance of, 550
characteristics of, 549
childhood, 549
embryonal
microscopic appearance, 549
subtypes, 549
excised from thigh of newborn, 549
pleomorphic form of, 550
spindle cell, 549
rhagades, 590
rhizomelic chondrodysplasia punctata, 415
right atrium
dilated, in 28-week fetus: ultrasound, 432
morphology of, 55
right retroperitoneal mass, 70
right ventricle
20-week gestation: hypoplastic, with TV regurgitation: ultrasound with color Doppler, 449
22-week gestation: hypoplastic, and PA stenosis: ultrasound, 449
22-week gestation: ultrasound, 449
communication with parietal encephalocele, 66
double-outlet, with atrioventricular septal defect, 455
hypoplastic, 449
morphology of, 58
small: ultrasound with color Doppler, 449
Ritscher-Schinzel (3C) syndrome, 435
Ritter disease (staphylococcal scalded skin syndrome), 583
Roberts syndrome, 238–239, 435
Robin sequence, 219–220
Robinow (fetal face) syndrome
abnormalities summarized, 232–236
characteristics of, 235–237
infant with large head, forehead, and hypertelorism, 236
Robinson defect, 214
Rosenthal fibers, 573
Rothmund-Thomson syndrome (congenital cutaneous dystrophy, Poikiloderma congenitale), 594
rubella
cardiac disorders associated with, 129
complication rate with, 279
confirmation of, 609
congenital
cardiac malformations in, 435, 609
cataracts in infant with, 280, 608
GI tract malformations in, 609
pulmonary artery branch, 609
thymus lobule atrophy, lymphocyte depletion, etc., 609
defects per gestational age, 279
defined, 608
diagnosis of, 609
effects on fetuses, 608–609
illustrations of syndrome, 278, 608
incidence of abortion from, 608
incidence of cardiac malformations in, 435
Rubinstein-Taybi syndrome, 239–240
rump-heel measurement, 50
sacrococcygeal mass, 70
sacrococcygeal teratoma
defects associated with, 554
illustration, 553
incidence of, 553
Type I, 552
Type II, 552
Type III, 552
Type IV, 552
Saethre-Chotzen syndrome
defined, 377–378
features of, 379
infant with hypertelorism, beak nose, syndactyly, 379
sarcomas, undifferentiated, 549–550
scalp
aplasia of (Goltz syndrome), 244
incision path to reflect, 62
midline defect, 190
reflected, in hypophosphatasia, 414
reflected skin of, 62
reflected skin revealing encephalocele, 66
vascular plexus, 12
scaphocephaly, 372
schisis PFD, 217–218
schizencephaly, 358
schneckenbecken dysplasia (snail pelvis), 396
Schnizel-Giedion syndrome, 435
Schwachman-Diamond syndrome, 506
scleredema, 592
sclerema neonatorum, 591
S/D ratio, 79
sebaceous nevus of Jadassohn, 593–594
sebaceous nevus syndrome, linear, 594
seborrheic dermatitis, 579–580
Seckel syndrome
22-week fetus, 247
abnormalities: categorical summary, 248
CNS abnormalities, 247–248
craniofacial characteristics, 246–247
defined, 246
dental abnormalities, 248
dwarfism in, 248
endocrine abnormalities, 248
etiology of, 248
heart defects, 248
hematopoietic disorders in, 248–249
skeletal characteristics, 247
sequences, 218
sex, determination of, 1
sex differentiation and morphogenesis flow sheet, 542
sex differentiation disorders schematic, 543
sex hormone biosynthesis and action, gene/gene products involved in, 536
sex steroid use, 129, 466
sexual identification by age, 530
SFN (subcutaneous fat necrosis), 591
SGA (small for gestational age), 13, 317–318
short bowel syndrome, 496
short-rib polydactyly syndromes, 409
classification of, 408
type I clinical features, 410
type I dysplasia in newborn, 409
type I in premature neonate: radiograph, 409
type I pathologic features, 410
type I physeal fibrosis: histological section, 409
type I short ribs: ultrasound, 409
short trunk osteochondrodysplasias, 396–402
sialidosis, lymphocyte vacuoles in, 641
sialoblastoma, 569
sickle cell anemia, 163
red blood cells with, 164
simean crease, 186
single pocket technique, 318
sinus venosus defect, 436
sirenomelia
10-week fetus with, 215
abnormalities associated with, 216
defined, 216
incidence of, 216
infant of diabetic mother, 297
schisis association and, 217
time of development, 216
situs inversus
abdominal organs with, 53
dextrocardia in fetus with, 454
skeletal system
bone dysplasias, prenatal diagnosis of, 390
bone formation, 388
BPD/femur-length ratio, 132
by gestational age, 425
campomelic dysplasia: radiograph, 419
chondrodystrophies, 132
dysplasias, 132–133, 424
femur-length/foot-length ratio, 132, 425
head-circumference/abdominal- circumference ratio, 140
head-circumference/femur-length ratio, 109–110, 132, 425
joints, bulbous enlargement, in newborn, 398
long bones
assessing length of, 132–133, 424–425
shortening, syndromes associated with, 131–132, 423–424
ossification, normal endochondral, 389
rib and vertebral anomalies (Goltz syndrome): X-ray, 245
ribs, severe shortening of, 406
upper limb defects (Goltz syndrome): X-ray, 245
see also skull
skin disorders
acrodermatitis enteropathica, 584
acropustulosis of infancy, 588
blue nevus, 595
Candida infection, 168, 589
chronic bullous disease of childhood (CBDC) (linear IgA dermatosis), 583–584
cutaneous dystrophy, congenital (Rothmund-Thomson syndrome, Poikiloderma congenitale), 594
ectodermal dysplasias, 597–598
epidermolysis bullosa, 581, 582
ETN. See erythema toxicum neonatorum (ETN)
facial skin: angiofibromas in tuberous sclerosis, 258
herpes simplex, 281, 590–591, 612
hyperelasticity of, in Ehlers-Danlos syndrome, 267
impetigo, 588–590
incontinentia pigmenti, 584
lamellar ichthyosis: hyperkeratotic skin: microscopic appearance, 585
Langerhans cell histocytosis, 598–599
Leiner disease (desquamative erythroderma), 580
LEOPARD syndrome, 596
linear sebaceous nevus syndrome, 594
melanocytic lesions, 595–596
neurofibromatosis, multiple, 255
NPM (neonatal pustular melanosis), 588–589
pterygia, multiple (fetal akinesia), 224, 598
restrictive dermopathy, 592–593
rhagades, 590
scleredema, 592
sclerema neonatorum, 591
sebaceous nevus of Jadassohn, 593–594
seborrheic dermatitis, 579–580
SFN (subcutaneous fat necrosis), 591
staphylococcal scalded skin syndrome (Ritter disease), 583
syphilitic skin lesions, 589–590
toxic epidermal necrolysis (TEN) (Lyell type), 583
trichothiodystrophy (IBIDS), 586–587
urticaria pigmentosa, 597
xeroderma pigmentosum, 597
see also ichthyosis; varicella/zoster infection
skull
base of, 66, 67
cleidocranial dysplasia, 381
cloverleaf (kleeblattschädel)
26-week fetus after scalp reflection, 377
characteristics of, 375–376
illustration, 372
in newborn, with thanatophoric dysplasia, 396
Pfeiffer syndrome with, 377
thanatophoric dysplasia and, 109
ultrasound of, 396
demineralized, in hypophosphatasia: ultrasound, 414
excessively round, 109
falx cerebri, calcification of: X-ray, 266
fracture from forceps delivery, 41
jaw, prognathism of lower, 71
‘lemon sign,’ 109, 363
malformations of, 371–381
posterior fossa
cyst in Dandy-Walker malformation, 352
cyst incidence in, 112, 364
sonography of, 364
‘question mark’ incision, 64, 65
shape abnormalities, 109
shape as indicator, 109
‘strawberry,’ 109, 363
top, with skin reflected, 63
see also specific disorders and syndromes
small blue cell tumors
of childhood, 560
of newborn: histopathologic differential diagnosis of, 561
primitive neuroectodermal tumor (PNET), 563, 573
small cell tumor, malignant thoracopulmonary, 563
small for gestational age (SGA), 13, 317–318
Smith-Lemli-Opitz syndrome
abnormalities summarized, 242
ambiguous genitalia in male, 241
brain surface, and hyperchromatic islet cells of pancreas, 242
characteristics at birth, 241
clinical manifestations, 240–241
cystic kidney, 241
large dysplastic, 527
defined, 240–241, 528
fetal manifestations, 241
incidence of cardiac malformations in, 435
micrognathia, microcephaly, and large ear, 240
syndactyly of 2nd and 3rd toes, and polydactyly, 241
smoking
abruptio placentae and, 26
effects of, 313
fetal death and, 30
placenta previa and, 156
placental ischemia with infarcation after, 158
snail pelvis (schneckenbecken dysplasia), 396
snuffles, 284
somites, 3, 6
sonographic studies
advanced, 83–84
basic, 83
components of, 84–90
factors affecting sensitivity of, 90–91
first trimester, 84, 95–98
limited, 82–83
multiple gestation cases, 87–88
second/third trimester, 84–87
value of routine prenatal, survey of, 91–92
sonography
abdominal, 117–118
antenatal
advisability of, 80
indications for, 80–81
routine, 80
biophysical profiles by, 82
cardiac, 460–467
Doppler‘s benefits, 82–83
intrauterine pregnancy exclusion by, 97
non-stress testing, 82
utilization patterns, 80
see also sonographic studies; ultrasound
sphingolipidosis, 641–642
sphingolipids, structure of, 643
sphingomyelinase deficiency, 641–642
spina bifida occulta, 342
spinal column sonographic evaluation, 115–116
spinal cord
anterior horn cells in, 640
multiple neurofibromas of nerves in, 255
removal at autopsy
anterior approach, 63–64
posterior approach with brain and myelomeningocele intact, 64–65
with brain and myelomeningocele intact, 65
spinal rachischisis, 71
spindle cell rhabdomyosarcoma, 549
spine
cervical, 123
sonographic evaluation of, 85
thoracolumbar, with attached ribs, 73
spleen
hepatosplenomegaly, 280
heterotopic, 506
in Niemann-Pick disease, 644
spondylocostal dysplasia, 435
spondyloepiphyseal dysplasia congenita
chondrocyte with dilated cisternae: electronmicrograph, 403
chondrocytes, 403
clinical features, 400
newborn with, 403
pathologic features, 400
radiological features, 400
vertebral bodies, reniform ilia, and limb bones: radiograph, 403
squamous metaplasia, 165
stages of embryonic developmental, 1–12
staphylococcal scalded skin syndrome (Ritter disease), 583
staphylococcal septicemia in neonate
liver with multiple abscesses, 602
lungs with cavitary abscesses, 602
stem cell villous, arteriole from, 164
sternum, defect in fetus, 301
stillbirths
24-week: with simian crease, 186
chromosomal defects in, 29
defined, 23
diabetes mellitus and, 30
drug abuse and, 30
fetal abnormalities in, 26–29
major malformations, 28–29
maternal factors in, 30
placental changes with, 46
systemic lupus erythematosus and, 30
weights and measurements of: means and standard deviations, 665
see also fetal death; perinatal death
stippling of epiphyses, calcific, 421–422
stomach bubble
absent, 116–117, 507–508
colon, diameter of, 119
double, 116, 118, 507
location of, 85, 116
right-sided, 116, 507
size of, 116
swallowed particulate matter in, 116
stomach size by gestational age, 507
storage disorders
Austin disease (multiple sulfatase deficiency), 645
cholesterol ester storage disease, 645
Gaucher disease, 640–641, 643
leukodystrophy, metachromatic, 644
mucolipidosis II (I-cell disease), 328, 639–641
mucopolysaccharidoses, 635–639
neuronal ceroid lipofuscinosis (NCL) (Batten disease)
Niemann-Pick disease, 641–642, 644
Pompe disease, 435, 646–647
vacuolated lymphocytes in, 637
von Gierke disease, 646
Wolman disease, 645
subaortic stenosis, 451
subcutaneous fat necrosis (SFN), 591
subependymal giant cell astrocytoma, 572–573
subgaleal hemorrhage, 41
SUC (short umbilical cord syndrome). See umbilical cord, short
suction extraction, subgaleal hemorrhage from, 41
sulfatase deficiency, multiple (Austin disease), 645
superior vena cava, persistent left, 456
condition suggesting, 54–55
illustrations with posterior view of, 456
large coronary sinus in heart with, 456
with absent innominate view, 456
with hypoplastic innominate vein, 456
surfactant, deficiency of, 482–484
sympathomimetic drugs, maternal use of
embryopathy from, 292
limb defects from, 293
syncytiotrophoblast, 4
syndactyly, in syndromes that may be diagnosed prenatally, 424
syndromes
defined, 227–228
malformation, 227–228
multiple-malformation, incidence of cardiac malformations in, 433
syphilis
congenital
effects of, 604–606
Hutchinson teeth from, 604
infant with hemorrhagic nasal discharge, 604
infant with scaly eruption, 591
lung showing ‘pneumonia alba,’ 604
serologic tests used in, 605
signs of late, 605
spirochetes present in placenta, 604
symptomatic cases of, findings in, 605
fetal symptoms, 604
fetal syndrome, 283
mode of infection, 603–604
placental, 161
skin lesions from, 589–590
snuffles in infant with congenital, 284
systemic lupus erythematosus, stillbirths and, 30
tachyarrhythmias, 466–467
tachycardia, 137
Taussig-Bing malformation, 446
Tay Sach’s disease, 644
teeth. See dental abnormalities
TEF. See tracheoesophageal fistula
Tei-index, 114
temporal bone removal
cuts needed for, 67
procedure, 66–67
TEN (toxic epidermal necrolysis) (Lyell type), 583
teratogens
defined, 275–278
environmental exposures and effects, 277
infections, 278
maternal factors, 277
prescribed drugs and effects
radiation, 278
site of action of, 276
time of action of, 276
teratoid tumor, atypical, 575
teratomas
benign: microscopic appearance, 553
cervical, 115, 576
defined, 131, 552
fetus in fetu and, 553
maxillary (epignathus), 553
mediastinal: ultrasound, 553
sacrococcygeal
defects associated with, 554
defined, 553
squamous elements with keratin, 553
Type I, 552
Type II, 552
Type III, 552
Type IV, 552
sites of, in children, 554
sites of perinatal, 554
thyrocervical, 553
testes
in Klinefelter syndrome, 204
juvenile granulosa cell tumor, 555
small, in karyotype 47, XXY, 203
tumor showing cystic and solid components, 554
tumors of, childhood, 555
tumors of, newborn, 555
tetracycline: embryopathy from maternal use, 291–292
tetralogy of Fallot
23-week gestation, ultrasounds of, 447
anomalies associated with, 447
cause of, 446–447
components of, 446
diagram of blood flow in heart with, 447
incidence of, 446
maternal phenylketonuria and, 129
X-ray appearance, 448
tetraploidy, 182–183
thalidomide
cardiac abnormalities risk and, 466
duodenal atresia and, 510
embryopathy from, 283–284
exposure to, 129
thanatophoric dwarfism, 394
thanatophoric dysplasia
cartilage: photomicrograph, 395
characteristics of, 394
clover-leaf skull in neonate, 396
clover-leaf skull: ultrasound, 396
fibrosis band at physis periphery, 395
incidence of, 394
live-birth, 424
neonate with large head, 395
newborn: X-ray, 396
prominent platyspondyly, 395
thermal index (TI), 76–77
Thomas syndrome, 435
thoraco-abdominal body wall defect, 300, 301, 457
thorax
8-week embryo: midline facial defect, thoracic wall defect, and ectopia cordis, 368
abnormal shape of, 127
bronchial atresia, 129
in situ examination at autopsy, 53–54
organs in full-term fetus, 54
organs in premature fetus, 54
sonographic evaluation of, 127–128
thoracic/abdominal-circumference ratio, 127
thoracic/head-circumference ratio, 127
tracheal atresia, 131, 473
see also chest; diaphragmatic hernias
thrombocytopenia – aplasia of radius, 244
thymus gland, 54, 185
thyroglossal duct cyst, 569
thyroid
carcinoma of, in MEN type 2B, 272, 273
enlarged (goiter), 114, 576
tumors of, 569
toe rays, 12
toes
bulbous, in Rubinstein-Taybi syndrome, 239
right: transverse reduction defects, 307
syndactyly of 2nd and 3rd, and polydactyly, in Smith-Lemli-Opitz syndrome, 241
triploidy, 200
see also polydactyly
toluene embryopathy
action of chemical, 293
child with, 294
defined, 293
effects and incidence, 293–294
tongue
large, 71
in Wiedemann-Beckwith syndrome, 230
papules on, in Cowden syndrome, 273
removal in autopsy, 59
Townes-Brocks syndrome, 436
toxic epidermal necrolysis (TEN) (Lyell type), 583
toxoplasma gondii, life cycle of, 606
toxoplasmosis
appearance with ventriculomegaly, 360
congenital, 606–607
brain, necrotizing lesions in, 607
cerebral surface, showing necrotic and calcification effects, 606
chorioretinitis in, 607
incidence per type of symptom, 607
life cycle of toxoplasma gondii, 606
embryopathy from, 282–283
evaluation for, 105–106
tracheal agenesis, 473
tracheal atresia, 131, 473
tracheo-bronchial tree, in Opitz syndrome, 237
tracheoesophageal fistula (TEF)
anomalies associated with, 471–473
blind end of proximal esophagus, 472
distal end, communicating with carina, 472
esophageal atresia and, 470–471, 491
incidence of, 470–471
symptoms, 471
types of, 471
transposition of great vessels
complete, 442
corrected, 442–443
diagram of blood flow in, 442
normally positioned RV, with VSD, 442
TRAP (twin reversed arterial perfusion), 623–624, 627
Treacher Collins syndrome (mandibulofacial dysostosis)
features of, 237–238, 381–383
illustrations, 238, 381, 382
outlined, 382
trichothiodystrophy
defined, 586–587
hair shaft showing disruption: electronmicroscopic appearance, 586
light and dark bands of, 586
signs and symptoms associated with, 587
sparse, brittle, coarse hair, 586
tricuspid valve
atresia, 448
diagram of blood flow in heart with, 448
opened right atrium in a heart with, 448
dysplasia, 432
regurgitation through, 432
trigonocephaly, 371, 372
trimethadione syndrome, 129, 287, 288
trimethadione use, 466
triplets
delivery modes, 626
incidence of, 626
loss rates, 626
placentas
monoamniotic, monochorionic, with single sac, 630
triamniotic, trichorionic, fused, 630
placentation in, 626
transfusion in triamniotic dichorionic placenta, 627
umbilical cord anomaly incidence, 626
vanishing triplet, 628
velamentous insertions with, 626
zygosity of naturally-conceived, 623
triploidy
9-week, spontaneously-aborted fetus with bilateral cleft lip, 369
abnormalities associated with
cardiopulmonary, 201
central nervous system, 201
craniofacial, 201
gastrointestinal, 201
general, 201
genitourinary, 201
maternal/placental, 201
ocular, 201
skeletal and extremities, 201
causes of, 199
chromosomal bases of, 182, 201
facial abnormalities, 199
femur shortening in, 425
incidence of, 182, 201
mortality from, 182
placenta: microscopic section, 200
placenta with partial hydatidiform mole, 200
toes, 200
types of, 199–200
trisomy 8
clinical clues for, 195
ears, 197
hands, 197
lymphedema and multiple anomalies, 197
plantar furrows and malpositioned toes, 197
see also trisomy 8 mosaicism malformations
trisomy 8 mosaicism malformations, 197
central nervous system, 197
craniofacial, 197
genitourinary, 197
limb and trunk, 197
ocular, 197
skeletal, 197
visceral, 197
trisomy 13
anomalies in infants with, 102
dermatoglyphics, 191
facial defects, 188, 192
femur shortening in, 425
genetic aspects, 190
holoprosencephaly spectrum, 193
incidence, 191
kidneys, 190
malformations in
cardiovascular, 194
central nervous system, 194
external, 194
genitourinary, 194
ocular, 194
visceral, 194
mortality, 190
trisomy 16, 182
trisomy 18
32-week fetus with micrognathia, 194
common additional findings with, 106
femur shortening in, 425
findings characteristic of, 102, 192
index finger overlapping middle, 195
malformations in
cardiovascular, 196
central nervous system, 196
gastrointestinal, 196
ocular, 196
skeletal, 196
urogenital, 196
visceral, 196
multivalvular heart, 195
risk of, with choroid cysts, 106, 362
rocker-bottom feet in, 194, 195
trisomy 21 (Down syndrome)
22-week fetal profile, 187
22-week fetus: atrioventricular septal defect: ultrasound, 439
24-week stillborn with simian crease, 186
abnormalities observed in
cardiac, 189–439
CNS – brain, 189
endocrine, 189
general, 189
hematologic, 189
immune system, 189
renal, 189
visceral, 189
age when appearance visible, 185
brain, 188
clefts, bilateral, with residual premaxilla, 385
dermatoglyphics of, 186
fetus with cystic hygromas, 331
fetuses, first trimester death of, 182
foot: ultrasound, 187
hand bones X-ray, 187
humerus shortening in, 132
hypertelorism in, 188
IFC/FL ratios in, 425
incidence of, 186–188
iris, Brushfield spots on, 187
lobulus missing, 386
maternal AFP levels and, 185–187
maternal age and, 185, 188
polydactyly in, 188
risks per parental translocation carrier, 188–190
thymus abnormalities in, 185
trisomy 22, 195
trophoblast, 2, 4
truncus arteriosus
20-week gestation: ultrasound, 444
20-week gestation, with VSD: ultrasound, 444
37-week gestation with: ultrasound, 444
defined, 443
diagram of blood flow in heart with, 444
Type I, 444
types of, 443–444
tuberculosis, liver in congenital, 606
tuberous sclerosis
astrocytoma, giant cell, 259
brain, coronal section, 258
brain pachygyria, 259
characteristics of, 258–260
defined, 525–526
facial skin angiofibromas, 258
hamartomatosis: microscopic appearance, 259
kidney with angiomyolipomas, 259, 526
leiomyomatosis in lung, 260
manifestations outlined, 258
outlined, 526
pachygyria in child with, 357
rhabdomyomas
involving epicardium, 547
multiple cardiac in newborn, 548
subungual nodule, 258
tumors
brain, 571–575
cardiac, 570
childhood, chromosomal abnormalities associated with, 547
congenital, composition of, 546
familial syndromes of, 577
fibrous, of infancy and childhood, 557
giant cell fibroblastoma, 559–560
intracranial, of childhood, 572
neuroectodermal, 560–564
pancreatic, 570
renal, classification of fetal and newborn, 566
small blue cell, of childhood, 560
thyroid, 569
see also tumors, embryonic
tumors, embryonic
course of, 546
germ cell, 552–559
WHO classification of, 551
malignant, incidence in newborn, 546
morphologic features of, 546
Turner syndrome (monosomy X)
abnormalities associated with
cardiovascular, 204
central nervous system, 204
endocrine, 204
genitourinary, 185, 203
infant/childhood/adolescent, 203
ocular, 204
summarized, 200, 203
embryonic survival rate, 201
features visible sonographically, 203
femur shortening in, 425
fetus with cystic hygromas, 331
fetus with multiloculated cystic hygromas, 331
genetic aspects, 203
hands and feet
edematous, 202
typical appearance of, 331
incidence of, 201
indicators of, 183, 203
maternal X retention in, 201
mosaic chromosomal complement in, 201
overview of, 202
streak ovaries in, 539
turricephaly, 371, 372
twin placentas, mean weights, 153
twin-to-twin transfusion
common form of, 170
intrauterine death due to, 626
placentas
appearance of, 170
diamniotic, dichorionic: injection study, 625
diamniotic, monochorionic, 625
diamniotic, monochorionic: injection study, 625
villous tissue in, 170
recipient liver: ultrasound, 626
recipient twin with ascites, 626
twin reversed arterial perfusion, 623–624, 627
twins
20-weeks gestation: ultrasound, 625
28-weeks gestation: 3D-ultrasound, 625
brain, ‘swiss cheese,’ in surviving twin, 629
conjoined
anatomic classification of, 628
anomalies in, 632–633
blood flow in thoracopagus, 631
cephalothoracopagus, 632
dicephalus dibrachus dipus (2 heads, 2 arms, 2 legs), 632
diprosopus in, 632
etiology, 627–632
incidence of, 632
placental form in, 623, 632
separate hearts with shared atrium in, 633
thoracopagus, 631
zygosity of, 623
cord entanglement, with fetal death, 628
dichorionic, 623
early gestation with 2 yolk sacs, 624
embryonic, monochorionic monoamniotic, 10, 624
greatest risk to, 170
growth patterns of, 316
incidence of, 622
intrauterine growth retardation risk and, 316
membrane dividing: ultrasound, 624
monozygotic
initial mechanism, 622
placentation in, 622–623
risks for, 623–625
placental types with, 623
‘polar body,’ 622
vanishing
amorphous calcified
gross appearance, 629
microscopic appearance, 629
normal twin and dead vanishing: ultrasound, 629
phenomenon outlined, 623
placenta, viable, and small, 629
vascular disruption in, 301
zygosity determination, 622
see also twin-to-twin transfusion
ulegyria, 356
ultrasound
advances since 1970’s, 143
ALARA standard, 77–78
basic effect of, 76
basic operation, 77
capabilities per gestational age, 143–148
endovaginal, 143
transabdominal versus, 148–149
energy indices, 76–77
frequencies used, 77
gestational age measurements by, 2, 88–89
image generation modes
3D, 79–80
A mode, 78
B mode, 78
color flow, 78–79
M mode, 78
summarized, 78
image resolution
minimizing obesity’s effect on, 77
objects adversely affecting, 77
mechanical index, 77
potential ill effects of, 76
power limit, current FDA, 76
prenatal evaluation by, 12–13
resistance index, 79
safety issues, 76–78
scanning depth ranges, 77
S/D ratio, 79
thermal index (TI), 76–77
see also sonographic studies; sonography
umbilical artery
Doppler velocimetry of, 85–87
illustration, 52
single
aneuploidy and, 133, 544–545
anomalies associated with, 133
cause of, 171
cross section, 171
determination of, 171
incidence of, 133, 171
incidence of associated abnormalities, 544
possible causes, 133
sonographic evaluation of, 133, 544
ultrasound of, 171
umbilical cord
12th week: 3-D view, 147
abnormalities, 170–176
attached abdominal wall and, 69
blood flow, with normal insertion, 88
coiling of, corkscrew, 173
compression, 24
constriction from amniotic bands, 169, 306
cross sections
with single artery, 171
early formation of, 12
edema of, 175
ultrasound of, 175
growth of, linear, factors in, 304
hematoma of, 174
hypercoiled, 25
inflammation, 176
insertion
axial image, 119
constriction and twisting at, 26
furcate, 171
normal, 86
velamentous, 24, 26, 171–172, 626
involvement in fetal death, 23–24
knots, 24, 172
false, 172
true, 172
complex, 172
length
by age (8–18 weeks), 153
by age (20–43 weeks), 153
determinants of, 173–174, 305
long
defined, 173
problems involving, 23, 174
meconium in, 176
normal, 85
nuchal, 24
neck constriction from, 25
tight, 175
with death and maceration, 25
prolapse of, 24
short
20 cm., 175
anomalies associated with, 305
defined, 173–174
etiology of, 304, 496–497
fetus with: ultrasound, 307
neonates with, 300, 307
problems involving, 23–24
syndrome anomalies by group, 306–307
with omphalocele, 174, 307, 496
sonographic evaluation of, 85–87
strictures in, 174
three-vessel: sagittal image, 88
thrombosis algorithm, 173
tight, 175
twins
entanglement, with fetal death, 628
insertion of monoamniotic, monochorionic cords, 628
twisted, 25, 173, 175
vascular thrombosis of, 173
with cyst, 69
see also umbilical artery; umbilical vein
umbilical vascular thrombosis, 173
umbilical vein
function of, 429
illustration, 52
premature involution of, 119–120
thrombosis of, microscopic section, 173
urea cycle disorders, 647–648
Ureaplasma urealyticum, 603
ureter duplication, 513
urethral agenesis, 519
urethral mucous membrane, valvular folds in, 522
urethral valves, posterior, 522
gross appearance, 523
sequence, 522
types of, 522
uropathy, obstructive, 124
consequences of, 522
prostate in, 522
urorectal septum, 499
urticaria pigmentosa, 597
uterus
bicornuate, 73
with septate cervix and vagina, 537
with septate vagina, 535
septate, 535
with septate vagina, 535
unicornate, 535
VACTERL association, 436
vagina, atresia of, 535
valproic acid embryopathy, 287
Van der Woude syndrome, 436
varicella/zoster infection
defined, 591
embryopathy from, 281–282
fetal infection, 613
manifestations of, 613–614
maternal, 279, 612–613
skin of newborn showing vesicles, 613
vesicles closeup, 613
vasa previa, 26
vascular rings, 457
vasculopathy, decidual, 164–165
VATER polytopic field defect
characteristics of, 217, 218
dissected organs in, 217
heart defects in, 431
venous-arterial shunts, 442–448
ventricle/hemisphere ratio, 104, 360
ventricular septal defects, 439
23-week fetus with: ultrasound, 440
33-week fetus: left ventricular outflow tract: ultrasound, 440
blood-flow diagram for heart with, 440
left ventricular septal surface, 440
subarterial, 440
types illustrated, 439
ventriculomegaly
abnormalities associated with, 105
axial image, 105
confirming, 104–105
extra-CNS anomalies seen with, 360
incidence with aneuploidy, 105, 360
incidence with other anomalies, 360
indicator of, 360
pseudo-, 104
syndromes associated with, 105, 360
toxoplasmosis with, 360
vernix caseosa, 51, 166
vesicular lesions
conditions with, in newborn, summary of, 588
defined, 580–581
fetal/neonatal, summary of, 581
viability, 18
villi, normal/abnormal, 14–15
villitis
acute, 160
chronic, 160–161
defined, 160
noninflammatory, 161
of unknown etiology, 161
villous edema, nonhydropic, 159
villous hydrops, 165
viruses, elimination by newborns, 608
visceral leishmaniasis (kala-azar), 618
Vitamin A
embryopathy from, 286–287
toxicity, abnormalities from, 288
Vitamin D excess, abnormalities from, 288
Vitamin K deficiency, abnormalities from, 288
vitellointestinal duct remnants, 495–496
types of, 495
volvulus in malrotation, 494
von Gierke disease, 646
Von Hippel-Lindau disease
characteristics of, 260–261
cystic kidney, 260, 529
defined, 527
epididymis, 260
genetics of, 260–261
inheritance in, 261
manifestations by organ, 261
pheochromocytoma in, 261
renal cysts in, 260, 529
microscopic appearance, 260, 529
von Recklinghausen disease. See neurofibromatosis
Vrolik disease, 411
Waardenburg syndrome, 436
Walker-Warburg syndrome, 355
Warfarin embryopathy, 289
abnormalities in, 289
illustration, 289
infants with, 289, 290
outline of, 289
stippled calcifications of femurs, calcaneus, and iliac wings in, 422
weight, fetal
8 to 26 weeks: mean values by week, 663
estimating, 13
estimations of, 138–139, 316–317
placenta:fetal-weight ratio by age, 152
see also birth weight, low
weight/length ratio, 318
weights and measurements
8 to 26 weeks gestation, 663
live-born infants, 666
stillbirths, 665
weights, organ
in relation to total body weight, 669
of 9-to-20-week fetuses, 664–669
of children, 668
widow’s peak, 292
Wiedemann-Beckwith syndrome
adrenal cytomegaly in, 230
algorithm for, 229
clinical appearance, 230
clinical manifestations of, 227–230, 270
defined, 227
earlobe cleft in, 230
kidney, dysmorphogenetic: cut surface, 230
pits on helix in, 230
Williams syndrome
elfin face, anteverted nares, and everted lips in, 243
etiology, 242, 450–451
incidence of, 450
incidence of cardiovascular malformations with, 436
presentation findings, 242–243, 450
Wilson disease, 653–655
Wolman disease, 645
X-linked recessive chondrodysplasia punctata, 418
xeroderma pigmentosum, 597
yolk sac
8th week: 3-D view, 145
βHCG levels and existence of, 96
initial identification of, 13
sonography of, 144
tumors of, 554–555
ovarian, 555
testicular, 554
yolk sac cavity, 4
Zellweger syndrome (cerebrohepatorenal syndrome)
abnormalities: categorical summary, 251
brain in
pachygyria, 653
pachygyria and lissencephaly, 250
characteristics of, 249
cortical cysts in newborn, 527
defined, 526–527
femur, distal: X-ray, 249
hypotonia in infant, 249
kidney in
cystic, 250, 653
multiple cortical cysts, 653
liver in
cirrhosis, and iron in Kupffer cells: microscopic view, 250
cut surface of, 250
iron deposition discoloration, 653
tubular cysts: microscopic section, 527
typical facial appearance, 249
zinc deficiency, 584
zona pellucida, 2–3
zygote, 1