ultrasound diagnosis of fatal anomalies
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INDEX
esophageal atresia 72
extrasystoles 93
fetal alcohol syndrome 320
Fryns syndrome 246
heroin 321
Holt–Oram syndrome 249
hydrolethalus 249
hydrops fetalis association 286
hygroma colli 64–5
intestinal atresia and stenosis association
110
Jacobsen syndrome 179
Miller–Diecker syndrome 258
Noonan syndrome 265
omphalocele association 120
Pallister–Killian syndrome 179
parvovirus B19 d.d. 291
radius aplasia/hypoplasia 166
renal agenesis association 135
short rib–polydactyly syndrome 171
Shprintzen syndrome 273
Smith–Lemli–Optitz syndrome 274, 275
triploidy 180, 181, 182
trisomy 8 185
trisomy 9 186
trisomy 10 187
trisomy 13 188, 190, 191
trisomy 18 194, 195, 196, 201, 202
trisomy 21 205, 206, 207, 210
Turner syndrome 211, 213
see also heart; named conditions
cardiac arrhythmia, fetal 82, 84
cardiac failure 309, 311
cardiac insufficiency 107, 141
cardiac rhabdomyomas 99–100
cardiomegaly 57, 291
Carpenter syndrome 120, 163, 330–1
Apert syndrome d.d. 237
Crouzon syndrome d.d. 244
Mohr syndrome d.d. 260
Smith–Lemli–Optitz syndrome d.d. 274
cataract 47, 160
caudal regression syndrome 91, 135, 240, 250,
318, 330–1
multiple pterygium syndrome d.d. 263
VACTERL association d.d. 250, 280
CDKN1 C gene 239
central nervous system (CNS) 180, 183, 320,
322
cerebellar diameter 353
cerebellum 8, 11, 183, 186, 220
hypoplasia 169, 179, 255
cerebral anomalies 259
see also ventricles, cerebral
cerebral artery, medial 361
cerebral gyri, absence 258, 282
cerebral infarcts 311
cervical canal 19
cervical insufficiency, maternal 19
cervix, maternal 18, 19
CHARGE association 96, 120, 225, 241–2,
330–1
Dandy–Walker syndrome association 34,
220, 242
Smith–Lemli–Optitz syndrome d.d. 242, 274
choanal atresia 241, 242
chondrodysplasia punctata 47, 225, 330–1,
332–3
chorioangioma 286, 297
chorionic villus sampling 195, 210, 211
choroid plexus 242
cysts 194, 229–30
chromosomal anomalies 2, 219–33
cisterna magna 188, 194, 353
cleft lip and palate see facial clefts
cleidocranial dysplasia 332–3
clinodactyly 179, 194, 202, 205, 259, 268
clitoris 127, 184
cloaca formation 130
cocaine 321–2
encephalocele 36
hydranencephaly 42
hydronephrosis 130
intestinal atresia and stenosis 110
intracranial bleeding 46
radius aplasia/hypoplasia 166
renal agenesis 135
coloboma 47
color Doppler sonography 5, 6, 12, 14, 15, 16
color flow mapping (CFM) 2, 3, 8–9
congenital cystic adenomatoid malformation
(CCAM) of lung 69, 70, 71
congenital malformations in multiple pregnancy
302
Conradi–Hünermann syndrome 332–3
Cornelia de Lange syndrome 96, 166, 228, 243,
316, 332–3
Apert syndrome d.d. 237, 243
Freeman–Sheldon syndrome d.d. 245
Fryns syndrome d.d. 246
Holt–Oram syndrome d.d. 243, 249
Miller–Diecker syndrome d.d. 258
multiple pterygium syndrome d.d. 243, 263
Nager syndrome d.d. 264
Neu–Laxova syndrome d.d. 265
Noonan syndrome d.d. 266
Shprintzen syndrome d.d. 273
Smith–Lemli–Optitz syndrome d.d. 243, 274
TAR syndrome d.d. 277
trisomy 21 d.d. 205
Turner syndrome d.d. 211
corpus callosum agenesis 29–30, 31–2, 33, 34,
35
hydrolethalus 249
hypoplasia of left heart association 96
Meckel–Gruber syndrome 30, 255
Miller–Dieker syndrome 30, 258
triploidy 30, 180
trisomy 18 30, 194
Wolf–Hirschhorn syndrome 30, 215, 216
cortisone 59
cranial sutures 244
cranial vault absence/aplasia 24, 25, 26
craniofacial abnormalities 192, 193
Apert syndrome 236, 237
cocaine 321
Crouzon syndrome 244
Fryns syndrome 246
heroin 321
hydrolethalus 249
Miller–Diecker syndrome 258
Pallister–Killian syndrome 179
Pena–Shokeir syndrome 267
trisomy 13 188
trisomy 18 194, 195, 200
trisomy 21 205
Wolf–Hirschhorn syndrome 215, 216, 217
see also facial clefts
craniofacial dysostosis type I see Crouzon syndrome
craniosynostosis 244
cri-du-chat syndrome 217, 258
Crouzon syndrome 30, 225, 244, 332–3
Apert syndrome d.d. 237, 244
hydrolethalus d.d. 250
crown–rump length 2, 350
cutaneous hemangioma/lymphangioma 251
cyclopia in trisomy 13 192, 193
cystic fibrosis 110, 116, 222, 283–4, 293, 332–3
cystic hygroma 251, 266, 267, 276, 286
cysts
choroid plexus 194, 229–30
Dandy–Walker syndrome 34, 35
gallbladder 139
liver 131
ovarian fetal 138–9, 140
umbilical cord 198, 203, 299–300
urachal 299
see also congenital cystic adenomatoid malformation
(CCAM) of lung; hygroma
colli; renal dysplasia, multicystic
cytomegalovirus (CMV) 27, 43, 116, 286, 293,
294–5
cataract d.d. 47
cystic fibrosis d.d. 283
parvovirus B19 d.d. 291
syphilis d.d. 289
toxoplasmosis d.d. 292
D
Dandy–Walker syndrome 34–5, 39, 220, 242,
245, 249
corpus callosum agenesis association 29, 33,
34, 35
Fryns syndrome 34, 220, 246
Meckel–Gruber syndrome 34, 220, 255
trisomy 9 186
Walker–Warburg syndrome 220, 282
de Lange syndrome see Cornelia de Lange syndrome
delivery 2, 81
Denys–Drash syndrome 124
Di George syndrome 88, 96, 273, 332–3
diabetes, gestational 318
diabetes mellitus, maternal 318
anal atresia 106
anencephaly 24, 318
caudal regression syndrome 250, 318
coarctation of aorta 81
duodenal atresia 108
femoral focal hypoplasia 155
holoprosencephaly 39, 318
hydramnios 298
hypoplasia of left heart 96
polydactyly 163
renal anomalies 130, 133, 135, 318
singular umbilical arteries 231
spina bifida 51
diabetic fetopathy 239
diaphragmatic hernia 8, 76, 77, 78, 120
cardiac anomalies 76, 77, 91, 92, 96
Fryns syndrome 76, 246, 247
multiple pterygium syndrome 76, 260
Pallister–Killian syndrome 76, 179
trisomy 18 76, 194
Wolf–Hirschhorn syndrome 76, 217
diastrophic dysplasia 155, 157, 253, 273, 332–3
disseminated hemangioma syndrome 251
1
2
3
4
5
363