ultrasound diagnosis of fatal anomalies

INDEX
trisomy 13 188
trisomy 18 194
varicella 290
Walker–Warburg syndrome 282
Wolf–Hirschhorn syndrome 215
microgenia 270
Cornelia de Lange syndrome 243
diastrophic dysplasia 155
Miller–Diecker syndrome 258
Pierre Robin sequence 270
Russell–Silver syndrome 272
trisomy 18 194
micrognathia 89, 179, 182, 186
micromelia 155, 243
micropenis 128, 129
microphthalmia 47, 133, 186, 188, 246, 290
Miller–Dieker syndrome 30, 43, 225, 258–9,
316, 338–9
Neu–Laxova syndrome d.d. 258, 265
Walker–Warburg syndrome d.d. 258, 282
mitral valve 5, 12
Mohr syndrome 163, 225, 259–60, 338–9
hydrolethalus d.d. 250, 260
Meckel–Gruber syndrome d.d. 256, 260
Nager syndrome d.d. 264
Shprintzen syndrome d.d. 273
Smith–Lemli–Optitz syndrome d.d. 260, 274
monosomy 10q, partial 106
monosomy 22q, partial 96
mucoviscidosis see cystic fibrosis
multiple pterygium syndrome 260, 261–2,
263, 338–9
Apert syndrome d.d. 237
arthrogryposis multiplex congenita association
151, 154, 263
Cornelia de Lange syndrome d.d. 243, 263
diaphragmatic hernia association 76, 260
diastrophic dysplasia d.d. 155
Freeman–Sheldon syndrome d.d. 245, 263
Fryns syndrome d.d. 246
hydrolethalus d.d. 250
Miller–Diecker syndrome d.d. 258
Nager syndrome d.d. 264
Neu–Laxova syndrome d.d. 263, 265
Noonan syndrome d.d. 266
nuchal translucency 228
parvovirus B19 d.d. 291
Pena–Shokeir syndrome d.d. 263, 269
Shprintzen syndrome d.d. 273
Turner syndrome d.d. 211
ventriculomegaly 225
MURCS association 34, 59, 135, 220, 263,
338–9
caudal regression syndrome d.d. 250
VACTERL association d.d. 280
muscle–eye–brain disease 338–9
myasthenia gravis, maternal 151
myelomeningocele 51, 52–5, 56
anencephaly association 27
anticonvulsive drugs 319
body stalkanomaly 240
iniencephaly association 46
sacrococcygeal teratoma d.d. 142
N
Nabothian cyst 19
Nager syndrome 59, 166, 248, 264, 338–9
Holt–Oram syndrome d.d. 249, 264
TAR syndrome d.d. 264, 277
VACTERL association d.d. 280
navel region 6, 16
neck8, 21, 63–8
anticonvulsive drugs 319
multiple pterygium syndrome 260
trisomy 18 194, 202
trisomy 21 205, 206
Turner syndrome 211, 212
see also hygroma colli; nuchal fold; nuchal
translucency
Neu–Laxova syndrome 265, 338–9
corpus callosum agenesis association 30
Dandy–Walker syndrome association 220
hydramnios 265, 298
hydrolethalus d.d. 250
intrauterine growth restriction 265, 316
Miller–Diecker syndrome d.d. 258, 265
multiple pterygium syndrome d.d. 263, 265
parvovirus B19 d.d. 291
Shprintzen syndrome d.d. 273
triploidy d.d. 180
ventriculomegaly 225
Walker–Warburg syndrome d.d. 265, 282
neural tube defects 8
amniotic band syndrome d.d. 150
anencephaly 24
anticonvulsive drugs 319
body stalkanomaly 240
club foot association 157
Dandy–Walker syndrome association 34
diabetes mellitus 318
ectopia cordis association 91
facial cleft association 59
fetal alcohol syndrome 320
iniencephaly 45
Miller–Diecker syndrome d.d. 258
omphalocele association 120
sacrococcygeal teratoma 141
triploidy 180
trisomy 9 186
trisomy 13 188
trisomy 18 194
neuroblastoma 138
Noonan syndrome 228, 265–6, 340–1
Apert syndrome d.d. 237, 266
CHARGE association d.d. 242
Fryns syndrome d.d. 246
MURCS association d.d. 263
parvovirus B19 d.d. 291
trisomy 21 d.d. 205, 266
Turner syndrome d.d. 211, 266
Norman–Roberts syndrome 258
nose 8, 10, 245
nuchal edema 187, 260
nuchal fold 205, 228, 274
nuchal translucency 2, 3, 8, 178, 228–9, 352
Apert syndrome 228, 236
body stalkanomaly 240
Cornelia de Lange syndrome 228, 243
hygroma colli 63
multiple pterygium syndrome 228
trisomy 18 194, 202
trisomy 21 205, 209, 210
Turner syndrome 211, 212, 228
twin-to-twin transfusion syndrome 305
O
oligodactyly 243
oligohydramnios 20, 301
anticonvulsive drugs 319
echogenic kidneys 223
fetal alcohol syndrome 320
hydronephrosis 131
hygroma colli 63
Meckel–Gruber syndrome 255
multicystic renal dysplasia 133
renal agenesis 135
TRAP sequence 309
triploidy 180
Turner syndrome 211
twin-to-twin transfusion syndrome 311
ureterocele 143
urethral valve sequence 146
omphalocele 6, 118, 119, 120–2
amniotic band syndrome d.d. 150
anencephaly association 24
Beckwith–Wiedemann syndrome 118, 120,
239
body stalkanomaly 240, 241
ectopia cordis association 91
gastroschisis 114
holoprosencephaly association 39
hypoplasia of left heart association 96
intestinal atresia and stenosis association
110
trisomy 13 120, 188, 190
trisomy 18 119, 120, 194, 197, 198, 200, 203
trisomy 21 205
Turner syndrome 213
umbilical cord cyst 299
orbit 10
orofaciodigital syndrome 163, 259–60
osteogenesis imperfecta 43, 157, 159–60, 161,
162, 340–1
osteopetrosis 225, 316, 340–1
otocephaly 164
otopalatodigital syndromes 340–1
ovarian cysts, fetal 138–9, 140
overweight, trisomy 8 185
P
4p deletion see Wolf–Hirschhorn syndrome
pachygyria 29
Pallister–Killian syndrome 76, 120, 179–80,
220, 348–9
Fryns syndrome d.d. 180, 246
nuchal translucency 228
parvovirus B19 286, 289, 291
Patau syndrome see trisomy 13
pectus excavatum 69
Pena–Shokeir syndrome 267, 268, 269, 332–3,
340–1
arthrogryposis multiplex congenita association
154, 269
CHARGE association d.d. 242
Freeman–Sheldon syndrome d.d. 245, 269
hydramnios 267, 298
Larsen syndrome d.d. 253
multiple pterygium syndrome d.d. 263, 269
Nager syndrome d.d. 264
Neu-Laxova syndrome d.d. 265
Noonan syndrome d.d. 266
parvovirus B19 d.d. 291
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