ultrasound diagnosis of fatal anomalies

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APPENDIXCardiacfindingsThoracoabdominalanomaliesUrogenitaltractGrowthrestrictionOtherdisordersPrognosisGoodOcc. anomaliesof genitaliaFatal in first years of lifeMacrosomiaDisturbance in mental development(not mandatory)Variable, mental impairment, spasticity12345347
APPENDIXTable 19.3Summary of differential diagnoses in chromosomal disordersChromosomaldisorderSkull/vertebralcolumnCNS Facial findings Hygroma colli/neck4 pdeletion(Wolf–Hirschhornsyndrome), p.215Cranial asymmetry, microcephalyAgenesis of corpus callosumMicrognathia, hypertelorism,cleft lip and/orcleft palate11 q deletion(Jacobsen syndrome),p.175Trigonocephaly, microcephalyOcc. wideningof ventricles,holoprosencephalyHypertelorism, flattenednasal bridge, micrognathia,ear anomaliesTetrasomy 12 pmosaicism (Pallister–Killian syndrome), p.179Hypoplasia of cerebellumFacial dysmorphism, hypertelorism,deep-set earsHygroma colliTriploidy, p. 180 Myelomeningocele Dilation of ventricles,Dandy–Walker cysts,agenesis of corpus callosum,holoprosencephalyHypertelorism, microphthalmia,micrognathiaCystic hygroma colliTrisomy 9 mosaicism,p.186Microcephaly, neuraltube defectsAnomaly of cerebellumCleft lip and/or cleft palate,micrognathia, microphthalmiaTrisomy 10 mosaicism,p.187Hypertelorism, cleft lip and/or cleft palate, micrognathiaHygroma colliTrisomy 13 (Patausyndrome), p.187Microcephaly, neuraltube defectHoloprosencephaly,wideningof ventricles, dilationof cisterna magna,agenesis of corpus callosumCleft lip and palate, hypoplasiaof mid-face, cyclopia,hypotelorism, microphthalmiaHygroma colli1Trisomy 18 (Edwardssyndrome), p.193Occ. meningomyeloceleAgenesis of corpus callosum,cysts of choroidplexus, anomalies of posteriorfossa, occ. ventriculardilationMicrognathia, deep-set ears,hypertelorism, occ. cleft lipand palateCystic hygroma colli2Trisomy 21(Down syndrome),p. 204Brachycephaly Wideningof ventricles Flat facial profile, small ears Hygroma colliTrisomy 22 Cleft lip and palate Occ. hygroma colli3Turner syndrome(45, XO), p.211Cystic hygroma colli45348
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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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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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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. 9.46 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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Page 314 and 315: DETERMINATION OF ZYGOSITYFig. 15.4
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Page 334 and 335: III. SCREENINGTable 19.1(Continue)F
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Page 338 and 339: APPENDIXCardiacfindingsThoracoabdom
Page 358 and 359: APPENDIXExtremities,skeletal findin
Page 360 and 361: APPENDIXmmmm351203095 %11010095 %25
Page 362 and 363: APPENDIXmm60mm14555045403595 %5 %12
Page 364 and 365: APPENDIXmm90mm7080706095 %5 %605095
Page 366 and 367: APPENDIXmm25mm252095 %2095 %155 %15
Page 368 and 369: APPENDIXcm40PI5,0354,5304,03,5253,0
Page 370 and 371: APPENDIXPI3,53,02.52,01,51,00,50,02
Page 372 and 373: INDEXesophageal atresia 72extrasyst
Page 374 and 375: INDEXGgallbladder 8, 139gastrointes
Page 376 and 377: INDEXtrisomy 13 188trisomy 18 194va
Page 378 and 379: INDEXSmith-Lemli-Optitz syndrome 27
Page 380: INDEXwhite spot 232-3Wildervancksyn
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