INDEXGgallbladder 8, 139gastrointestinal tract 20, 107, 135see also named regionsgastroschisis 91, 110, 111, 112–14, 150genital anomalies 123, 124–5, 126–8, 129anticonvulsive drugs 319Beckwith–Wiedemann syndrome 239CHARGE association 241, 242Cornelia de Lange syndrome 243Ellis–van Creveld syndrome 245fetal alcohol syndrome 320Jacobsen syndrome 179Miller–Diecker syndrome 258short rib–polydactyly syndrome 171Smith–Lemli–Optitz syndrome 124, 273, 274triploidy 124, 184Wolf–Hirschhorn syndrome 217genitals 8, 125, 126, 127female 17, 126, 127male 16, 127genitopalatocardiac syndrome 124gestation, multiple 2, 3, 9, 302–14gestational sac diameter 350gigantism, segmental 251gliosis 27glucose-6-phosphate dehydrogenase deficiency47goiter, fetal 66–7, 68Goldenhar syndrome 96, 166, 225, 248, 334–5hydrolethalus d.d. 250MURCS association d.d. 263Goltz-Gorlin syndrome 334–5Gorlin syndrome 30, 225, 250, 263great arteries, transposition 81, 100, 101–2,318great vessels 2, 88growth disturbance 315–17see also intrauterine growth restrictionHHallermann–Streiff syndrome 47, 334–5hand 7, 17, 163, 164–5, 166arthrogryposis multiplex congenita 152, 153diastrophic dysplasia 155hydrolethalus 249Larsen syndrome 253Meckel–Gruber syndrome 258Mohr syndrome 259multiple pterygium syndrome 261, 262Pena–Shokeir syndrome 267, 268radius aplasia/hypoplasia 166, 167syndactyly in Apert syndrome 236, 237thanatophoric dysplasia 174trisomy 18 194, 202ulnar deviation 245see also clinodactyly; fingers; polydactyly;thumb deformitiesHarlequin syndrome 316head 4, 8, 20, 171, 172circumference 2, 28, 351, 352, 358ratio 219, 220see also craniofacial abnormalitiesheart 8, 21, 51, 80–105diameter 356displacement 8, 70, 71diaphragmatic hernia 76, 77, 91, 92ectopic 92first screening 2, 4, 5four-chamber view 2, 4, 5, 8–9, 12, 14hamartoma 278hypoplasia of left 96, 97, 98, 205rhabdomyoma 278–9second screening 8–9, 12, 13transplantation 98white spot 232–3see also cardiac entriesheart rate, fetal 350Hellin rule 302hemifacial microsomy syndrome 96, 248hepatosplenomegaly 57, 287, 289, 291, 292,297, 311hermaphroditism 124heroin 321–2holoprosencephaly 39, 40, 41, 48anticonvulsive drugs 319diabetes mellitus 39, 318facial dysmorphism 39, 41, 59hypoplasia of left heart association 96Jacobsen syndrome 179triploidy 39, 180trisomy 13 39, 40, 188Holt–Oram syndrome 166, 249, 334–5Cornelia de Lange syndrome d.d. 243, 249Nager syndrome d.d. 249, 264Shprintzen syndrome d.d. 273TAR syndrome d.d. 277VACTERL association d.d. 249, 280homocysteinuria 47humerus length 355hyaloid artery 4, 11hydantoin 59, 103hydramnios 56, 298achondroplasia 148anencephaly association 27arthrogryposis multiplex congenita 151Beckwith–Wiedemann syndrome 239camptomelic dysplasia 157CHARGE association 242cystic fibrosis 283diaphragmatic hernia 76diastrophic dysplasia 155duodenal atresia 108, 109, 191encephalocele association 36esophageal atresia 72facial cleft 59Fryns syndrome 246gastroschisis 113goiter 66Goldenhar syndrome 248holoprosencephaly 39hydrolethalus 250intestinal atresia and stenosis association110meconium peritonitis 116Miller–Diecker syndrome 258multiple pterygium syndrome 260Neu–Laxova syndrome 265, 298osteogenesis imperfecta 160Pallister–Killian syndrome 179parvovirus B19 291Pena–Shokeir syndrome 267, 298Pierre Robin sequence 270rhesus incompatibility 287sacrococcygeal teratoma 141short rib–polydactyly syndrome 169syphilis 289tetralogy of Fallot 96TRAP sequence 309, 310trisomy 13 188, 191trisomy 18 194twin-to-twin transfusion syndrome 303, 311VACTERL association 280varicella 290hydranencephaly 39, 42hydrocele 126hydrocephalus 20achondroplasia 149body stalkanomaly 240caudal regression syndrome 250corpus callosum agenesis association 29cytomegalovirus 43, 293Dandy–Walker syndrome 34, 35encephalocele association 36hydrolethalus 43, 249, 250internus 43–5intracranial bleeding 46, 47Meckel–Gruber syndrome 43, 256multicystic renal dysplasia association 133obstructive 27, 28Pallister–Killian syndrome 179spina bifida association 51triploidy 180twin-to-twin transfusion syndrome 311varicella 290ventriculomegaly 225Walker–Warburg syndrome 282X-chromosomal 346–7hydrochondroplasia 336–7hydrolethalus 43, 163, 225, 249–50, 336–7Fryns syndrome d.d. 246, 250Meckel–Gruber syndrome d.d. 250, 256Mohr syndrome d.d. 250, 260hydroma colli 62hydrometrocolpos 129hydronephrosis 51, 130–1, 143, 145hydrops fetalis 46, 286–8achondrogenesis 147aneurysm of vein of Galen 57ascites 107atrioventricular septal defect association 82chorioangioma 297congenital cystic adenomatoid malformationof lung association 69Fryns syndrome 246hydramnios 298hygroma colli 63, 64multiple pterygium syndrome 260, 262nonimmune 170, 205, 208, 286parvovirus B19 291primary fetal hydrothorax 73sacrococcygeal teratoma 141short rib–polydactyly syndrome 169, 170,171syphilis 289tachycardia 100, 101TRAP sequence 309trisomy 21 205Turner syndrome 214, 286twin-to-twin transfusion syndrome 303,311umbilical cord cyst 299varicella 290hydrothorax 73, 74, 75trisomy 21 205, 208Turner syndrome 73, 211hydroureter 14312345365
INDEX12345hygroma colli 62, 63, 64–5, 66, 194Fryns syndrome 246, 247multiple pterygium syndrome 260trisomy 13 63, 188trisomy 18 63, 200trisomy 21 63, 65, 204, 221Turner syndrome 63, 211, 212, 214, 228see also cystic hygromahyperinsulinemia of the newborn 318hypertelorism 179, 180, 187, 215hyperthermia 24, 36, 51, 59, 151hyperthyroidism 66hypochondroplasia 47, 148, 156,163hypoglycemia 315, 318hypokinesia sequence 154hypophosphatasia 157hypospadias 124, 125, 127, 239hypothyroidism 66IIGF2 gene 239indomethacin 301, 310infections, congenital 27, 28, 107, 289–97arthrogryposis multiplex congenita 151cataract d.d. 47Dandy–Walker syndrome 34encephalocele 36fetal hydrops 286holoprosencephaly 39hydramnios 298hydranencephaly 42hydrocephalus internus 43intracranial bleeding 46microcephaly 48triploidy d.d. 180see also TORCHinferior vena cava 9iniencephaly 36, 45–6intersexuality 124intestines 6, 110–11, 113see also bowelintra-abdominal calcification 114, 115, 116, 117intracardiac fibroma 100intracranial bleeding 46–7intracranial calcification 48, 56, 292cytomegalovirus 293, 294, 295intrauterine death 20intrauterine growth restriction 20, 148, 316–17anticonvulsive drugs 319Cornelia de Lange syndrome 243, 316diabetes mellitus 318gastroschisis 113intestinal atresia and stenosis association110Jacobsen syndrome 179, 316Miller–Diecker syndrome 258, 316Neu–Laxova syndrome 265, 316Noonan syndrome 265Pallister–Killian syndrome 179Pena–Shokeir syndrome 267rhesus incompatibility 287Russell–Silver syndrome 272, 316Shprintzen syndrome 273Smith–Lemli–Optitz syndrome 274, 316triploidy 180, 181, 316trisomy 9 186, 316trisomy 10 187, 316trisomy 13 188trisomy 18 193–4, 316trisomy 21 205twins 311, 314varicella 290Wolf–Hirschhorn syndrome 215, 316iris coloboma 215, 241Ivemarksyndrome 82, 250, 336–7JJacobsen syndrome 179, 217, 225, 258, 316,348–9Jarcho–Levin syndrome 263, 280, 336–7joint contractures 179, 260, 267joint dislocation, congenital 253, 254Joubert syndrome 34, 163, 228, 336–7Apert syndrome d.d. 237Dandy–Walker syndrome association 220Meckel–Gruber syndrome d.d. 256Noonan syndrome d.d. 266Smith–Lemli–Optitz syndrome d.d. 274Turner syndrome d.d. 211Kkeyhole phenomenon 145, 146kidneys 6, 7, 8, 15calcification 138, 141echogenic 223, 239, 257hamartoma 278see also renal entriesKlippel–Feil association 96, 248, 263, 336–7Klippel–Trenaunay–Weber syndrome 150,251–2, 336–7knee deformities 155, 254Kniest syndrome 47, 211, 336–7achondroplasia d.d. 148Fryns syndrome d.d. 246Noonan syndrome d.d. 266KVLQT1 gene 239kyphoscoliosis 155, 240LL1 CAM gene 27labia, female genital 126lambda sign 9, 303laparoschisis 113large bowel 110–11, 113Larsen syndrome 154, 155, 253, 254, 336–7leg anomalies 151, 153, 162, 173–4, 250, 254lemon sign 43, 51, 54LEOPARD syndrome 266, 336–7leptomeninges, maldevelopment 28limb–body stalkanomaly 91, 150, 240–1lips 8, 10lissencephaly 29, 48, 265see also Miller–Dieker syndrome; Walker–Warburg syndromelisteriosis 43lithium 66, 89liver 8calcification 114, 115, 186, 290, 293, 295cysts131,139herniation 113ruptured omphalocele 121see also hepatosplenomegalylung malformation 69, 70, 71, 286see also pulmonary hypoplasialymphangioma 150, 251, 286MMcKusick–Kaufmann syndrome 129, 138macrocephaly 39macrocrania 148macroglossia 239macrosomia 239, 311, 315, 318Maffucci syndrome 251Majewski syndrome 220, 260, 338–9mandibulofacial dysostosis 248, 264Marfan syndrome 47, 239, 253Marshall–Smith syndrome 239, 318Meckel–Gruber syndrome 255–6, 257–8,338–9corpus callosum agenesis association 30,255Dandy–Walker syndrome association 34,220, 255echogenic kidneys 223encephalocele 36, 255, 256, 257facial dysmorphism 59, 256hydrocephalus 43, 256hydrolethalus d.d. 250, 256infantile polycystic kidney disease 131, 132Miller–Diecker syndrome d.d. 258Mohr syndrome d.d. 256, 260polydactyly 163, 255, 256, 258Smith–Lemli–Optitz syndrome d.d. 256, 274trisomy 13 d.d. 189, 256ventriculomegaly 225Walker–Warburg syndrome d.d. 282meconium calcification 106meconium ileus 110meconium peritonitis 107, 110, 116, 117, 283,289mediastinal obstruction 107mediastinal shift 8megacolon 89megacystis 130megacystis–microcolon syndrome 144megaureter 130meiotic nondisjunction 205, 211meningocele 48, 51, 52–5, 56mesenteric cysts 139metatrophic dysplasia 225, 338–9methotrexate 59, 270methylene blue 110metronidazole 59microcephaly 48–9, 50anticonvulsive drugs 319Cornelia de Lange syndrome 243corpus callosum agenesis association 29cytomegalovirus 293diabetes mellitus 318encephalocele 37, 38, 49fetal alcohol syndrome 320holoprosencephaly association 39, 48hypoplasia of left heart association 96Jacobsen syndrome 179Meckel–Gruber syndrome 255Miller–Diecker syndrome 258Neu–Laxova syndrome 265Pallister–Killian syndrome 179Smith–Lemli–Optitz syndrome 273, 274trisomy 9 186366
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Ultrasound Diagnosis ofFetal Anomal
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PrefaceSince 1979, ultrasound scree
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CONTENTSAchondroplasia ............
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Introduction
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FIRST SCREENINGFor reasons of safet
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FIRST SCREENINGFig. 1.6 First scree
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FIRST SCREENINGFig. 1.12 First scre
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SECOND SCREENINGview alone can easi
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SECOND SCREENINGFig. 1.18 Second sc
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SECOND SCREENINGFig. 1.24 Second sc
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SECOND SCREENINGFig. 1.30 Second sc
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SECOND SCREENINGFig. 1.36 Second sc
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SECOND SCREENINGFig. 1.42 Second sc
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THIRD SCREENINGTable 1.1(Continue)S
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2 The Central Nervous Systemand the
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THE CENTRAL NERVOUS SYSTEM AND THE
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THE CENTRAL NERVOUS SYSTEM AND THE
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THE CENTRAL NERVOUS SYSTEM AND THE
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THE CENTRAL NERVOUS SYSTEM AND THE
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THE CENTRAL NERVOUS SYSTEM AND THE
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THE CENTRAL NERVOUS SYSTEM AND THE
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THE CENTRAL NERVOUS SYSTEM AND THE
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THE CENTRAL NERVOUS SYSTEM AND THE
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THE CENTRAL NERVOUS SYSTEM AND THE
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THE CENTRAL NERVOUS SYSTEM AND THE
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THE CENTRAL NERVOUS SYSTEM AND THE
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FACE AND NECKFig. 3.2 Cleft lip and
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FACE AND NECKFig. 3.7 Cleft lip and
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FACE AND NECKFig. 3.9 Hygroma colli
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FACE AND NECKtions, literature, pho
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FACE AND NECKFig. 3.17 Fetal goiter
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THORAXFig. 4.1 Congenital cystic ad
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THORAXEsophageal Atresia12345Defini
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THORAXFig. 4.7 Primary fetal hydrot
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THORAXReferencesBecker R, Arabin B,
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THORAXFig. 4.15 Left-sided diaphrag
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5 The Heart12345General Considerati
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THE HEART12345tricle, and pulmonary
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THE HEARTFig. 5.4 Complete atrioven
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THE HEARTFig. 5.9 Atrioventricular
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THE HEARTFig. 5.10 Atypical four-ch
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THE HEARTFig. 5.11 Ebstein anomaly,
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THE HEARTFig. 5.14 Ectopia cordis.
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THE HEARTFig. 5.16 Tetralogy of Fal
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THE HEART12345Associated syndromes:
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THE HEARTFig. 5.25 Hypoplastic left
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THE HEARToccur concomitantly. In ad
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THE HEARTFig. 5.28 Transposition of
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THE HEARTFig. 5.30 Ventricular sept
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6 AbdomenAnal Atresia12345Definitio
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ABDOMENimportant to differentiate b
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ABDOMENNyberg DA, Resta RG, Luthy D
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ABDOMENFig. 6.4 Gastroschisis. Loop
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ABDOMEN12345tween the two condition
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ABDOMEN12345Meconium PeritonitisFig
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ABDOMENOmphaloceleDefinition: Ompha
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ABDOMENthe small-bowel loops into t
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ABDOMEN12345smaller omphaloceles, v
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UROGENITAL TRACT12345Normal male ge
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UROGENITAL TRACTFig. 7.2 Hydrocele.
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UROGENITAL TRACTFig. 7.8 Micropenis
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UROGENITAL TRACTMalini S, Valdes C,
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UROGENITAL TRACTUltrasound findings
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UROGENITAL TRACTFig. 7.16 Multicyst
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UROGENITAL TRACTFig. 7.18 Normal ki
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UROGENITAL TRACTMorse RP, Rawnsley
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UROGENITAL TRACTFig. 7.25 Ovarian c
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UROGENITAL TRACT12345Differential d
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UROGENITAL TRACTUrethral Valve Sequ
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UROGENITAL TRACTFig. 7.34 Urethral
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SKELETAL ANOMALIESPrognosis: Intrau
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SKELETAL ANOMALIESTeratogens: None
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SKELETAL ANOMALIESFig. 8.4 Arthrogr
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SKELETAL ANOMALIESFig. 8.10 Arthrog
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SKELETAL ANOMALIESFig. 8.11 Focal f
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SKELETAL ANOMALIESUltrasound findin
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SKELETAL ANOMALIES12345Type II: is
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SKELETAL ANOMALIESFig. 8.19 Osteoge
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SKELETAL ANOMALIESFig. 8.22 Polydac
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SKELETAL ANOMALIESClinical manageme
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SKELETAL ANOMALIESShort Rib-Polydac
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SKELETAL ANOMALIESFig. 8.33 Short r
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SKELETAL ANOMALIESFig. 8.37 Thanato
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SKELETAL ANOMALIESFig. 8.43 Thanato
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ChromosomalDisorders and theirSoft
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PALLISTER-KILLIAN SYNDROMEJacobsen
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TRIPLOIDYFig. 9.1 Triploidy at 16 +
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TRIPLOIDYFig. 9.7 Triploidy. Margin
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TRISOMY 8Holzgreve W, Miny P, Holzg
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TRISOMY 13ReferencesHengstschlager
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TRISOMY 13Fig. 9.16 Trisomy 13. Bil
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TRISOMY 13Fig. 9.21 Trisomy 13. Dou
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TRISOMY 18Scope: NationalNumber of
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TRISOMY 18Fig. 9.30 Trisomy 18. Fet
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TRISOMY 18Fig. 9.34 Trisomy 18. Fet
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TRISOMY 18Fig. 9.40 Trisomy 18. Fet
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TRISOMY 18Fig. 9.46 Trisomy 18. Sam
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TRISOMY 18Fig. 9.52 Trisomy 18. Sam
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TRISOMY 21Fig. 9.56 Trisomy 21. Nuc
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TRISOMY 21Fig. 9.61Trisomy 21. AV c
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TRISOMY 21Fig. 9.67 Trisomy 21. Cro
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TURNER SYNDROMETurner SyndromeDefin
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TURNER SYNDROMEFig. 9.74 Turner syn
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WOLF-HIRSCHHORN SYNDROMEScope: Nati
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WOLF-HIRSCHHORN SYNDROMEFig. 9.82 W
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10 Soft Markers of ChromosomalAberr
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ECHOGENIC BOWELEchogenic BowelDefin
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ECHOGENIC KIDNEYSEchogenic KidneysD
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MILD VENTRICULOMEGALYAssociated syn
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SHORT FEMURNicolaides KH, Snijders
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CHOROID PLEXUS CYSTSClinical manage
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SINGLE UMBILICAL ARTERYHoward RJ, T
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WHITE SPOTFig. 10.15 White spot. Th
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Selected Syndromesand Associations
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APERT SYNDROMEKaryotyping (differen
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BECKWITH-WIEDEMANN SYNDROMEBeckwith
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CHARGE ASSOCIATIONFig. 11.7 Body st
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Cornelia de Lange Syndrome (Brachma
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FREEMAN-SHELDON SYNDROMEOrigin/gene
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FRYNS SYNDROMEFig. 11.9 Fryns syndr
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HYDROLETHALUSDillon E, Renwick M, W
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KLIPPEL-TRÉNAUNAY-WEBER SYNDROMEBa
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LARSEN SYNDROMEMeholic AJ, Freimani
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MECKEL-GRUBER SYNDROMEMeckel-Gruber
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MECKEL-GRUBER SYNDROMEFig. 11.23 Me
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MOHR SYNDROMEPrognosis: This is gen
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MULTIPLE PTERYGIUM SYNDROMEFig. 11.
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MURCS ASSOCIATIONalso be associated
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NOONAN SYNDROMENeu-Laxova SyndromeD
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PENA-SHOKEIR SYNDROMEPena-Shokeir S
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PENA-SHOKEIR SYNDROMEFig. 11.39 Pen
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PIERRE ROBIN SEQUENCEFig. 11.42 Pie
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SMITH-LEMLI-OPITZ SYNDROMEShprintze
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SMITH-LEMLI-OPITZ SYNDROMEFig. 11.4
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THROMBOCYTOPENIA-ABSENT RADIUS (TAR
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VACTERL ASSOCIATIONsis. Cardiac rha
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VACTERL ASSOCIATIONFig. 11.54 VACTE
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CYSTIC FIBROSISSelf-Help Organizati
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Other Causes ofFetal Disease andAno
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RHESUS INCOMPATIBILITYReferencesAlt
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13 InfectionsCongenital SyphilisDef
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PARVOVIRUS B19Parvovirus B19Definit
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CYTOMEGALOVIRUS INFECTIONPratlong F
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CYTOMEGALOVIRUS INFECTIONFig. 13.4
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14 Placenta, Cord, and AmnioticFlui
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CYSTS OF THE UMBILICAL CORDCysts of
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OLIGOHYDRAMNIOSOligohydramniosDefin
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have fatal consequences, leading to
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DETERMINATION OF ZYGOSITYFig. 15.4
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CONJOINED TWINSFig. 15.6 Conjoined
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TWIN REVERSED ARTERIAL PERFUSIONmay
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TWIN-TO-TWIN TRANSFUSION SYNDROMESc
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TWIN-TO-TWIN TRANSFUSION SYNDROMEna
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- Page 372 and 373: INDEXesophageal atresia 72extrasyst
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