ultrasound diagnosis of fatal anomalies

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THANATOPHORIC DYSPLASIAmedian facial cleft, cardiac malformations, renalanomalies, disorders of the genitalia, fetal hydrops.Differential diagnosis: Asphyxiating thoracicdystrophy (absence of cleft palate and cleft lip),Ellis–van Creveld syndrome (in 60% cardiacanomalies), short rib–polydactyly syndrometype I (absence of facial clefts), thanatophoricdysplasia (absence of polydactyly).Prognosis: Fatal outcome, due to hypoplasia ofthe lungs.ReferencesBenacerraf BR. Prenatal sonographic diagnosis of shortrib–polydactyly syndrome type II, Majewski type. JUltrasound Med 1993; 12: 552–5.Bronstein M, Reichler A, Borochowitz Z, Bejar J, DruganEA. Early prenatal diagnosis of polycystic pancreaswith narrow thorax and short limb dwarfism. Am JMed Genet 1994; 49: 6–9.de Sierra TM, Ashmead G, Bilenker R. Prenatal diagnosisof short rib (polydactyly) syndrome with situs inversus.Am J Med Genet 1992; 44: 555–7.Gembruch U, Hansmann M, Fodisch HJ. Early prenataldiagnosis of short rib–polydactyly (SRP) syndrometype I (Majewski) by ultrasound in a case at risk. PrenatDiagn 1985; 5: 357–62.Hill LM, Leary J. Transvaginal sonographic diagnosis ofshort-rib polydactyly dysplasia at 13 weeks’ gestation.Prenat Diagn 1998; 18: 1198–201.Lavanya R, Pratap K. Short rib polydactyly syndrome: arare skeletal dysplasia. Int J Gynaecol Obstet 1995;50: 291–2.Meizner I, Bar ZJ. Prenatal ultrasonic diagnosis of shortrib polydactyly syndrome (SRPS) type III: a case reportand a proposed approach to the diagnosis ofSRPS and related conditions. JCU J Clin Ultrasound1985; 13: 284–7.Sirichotiyakul S, Tongsong T, Wanapirak C, ChanprapaphP. Prenatal sonographic diagnosis of Majewskisyndrome. J Clin Ultrasound 2002; 30: 303–7.Thomson GS, Reynolds CP, Cruickshank J. Antenatal detectionof recurrence of Majewski dwarf (short ribpolydactyly syndrome type II Majewski). Clin Radiol1982; 33 : 509–17.Wu MH, Kuo PL, Lin SJ. Prenatal diagnosis of recurrenceof short rib–polydactyly syndrome. Am J Med Genet1995; 55: 279–84.Thanatophoric DysplasiaDefinition: This fatal skeletal disorder is characterizedby short extremities (micromelia), a narrowedthorax and comparatively large head andcan be divided into type I and II.Incidence: About one in 40 000 births; the mostfrequent type of fatal skeletal dysplasia.Clinical history/genetics: sporadic occurrence;new mutation; autosomal-dominant inheritance;affected gene: FGFR3; gene locus: 4 p16.3.Type I: various gene mutations, type II: until now,only identical mutations have been found.Teratogens: Not known.Fig. 8.36 Thanatophoric dysplasia. Fetal profile:flattened nasal bridge, frontal bossing.2171
SKELETAL ANOMALIESFig. 8.37 Thanatophoric dysplasia. Atypical shapeof the fetal head at 21+3weeks.Fig. 8.38 Thanatophoric dysplasia. Frontal plane,showing thoracic and abdominal cavities in fetuswith thanatophoric dysplasia at 21+3weeks:“champagne cork” appearance.12345Fig. 8.39 Thanatophoric dysplasia. Dorsoposteriorlongitudinal section in a fetus with thanatophoricdysplasia at 21+3weeks.Thecircumferences of thethoracic (dysplastic) and abdominal cavities differconsiderably.172
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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
Page 129 and 130: ABDOMENthe small-bowel loops into t
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Page 133 and 134: UROGENITAL TRACT12345Normal male ge
Page 135 and 136: UROGENITAL TRACTFig. 7.2 Hydrocele.
Page 137 and 138: UROGENITAL TRACTFig. 7.8 Micropenis
Page 139 and 140: UROGENITAL TRACTMalini S, Valdes C,
Page 141 and 142: UROGENITAL TRACTUltrasound findings
Page 143 and 144: UROGENITAL TRACTFig. 7.16 Multicyst
Page 145 and 146: UROGENITAL TRACTFig. 7.18 Normal ki
Page 147 and 148: UROGENITAL TRACTMorse RP, Rawnsley
Page 149 and 150: UROGENITAL TRACTFig. 7.25 Ovarian c
Page 151 and 152: UROGENITAL TRACT12345Differential d
Page 153 and 154: UROGENITAL TRACTUrethral Valve Sequ
Page 155 and 156: UROGENITAL TRACTFig. 7.34 Urethral
Page 157 and 158: SKELETAL ANOMALIESPrognosis: Intrau
Page 159 and 160: SKELETAL ANOMALIESTeratogens: None
Page 161 and 162: SKELETAL ANOMALIESFig. 8.4 Arthrogr
Page 163 and 164: SKELETAL ANOMALIESFig. 8.10 Arthrog
Page 165 and 166: SKELETAL ANOMALIESFig. 8.11 Focal f
Page 167 and 168: SKELETAL ANOMALIESUltrasound findin
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Page 171 and 172: SKELETAL ANOMALIESFig. 8.19 Osteoge
Page 173 and 174: SKELETAL ANOMALIESFig. 8.22 Polydac
Page 175 and 176: SKELETAL ANOMALIESClinical manageme
Page 177 and 178: SKELETAL ANOMALIESShort Rib-Polydac
Page 179: SKELETAL ANOMALIESFig. 8.33 Short r
Page 183 and 184: SKELETAL ANOMALIESFig. 8.43 Thanato
Page 186 and 187: ChromosomalDisorders and theirSoft
Page 188 and 189: PALLISTER-KILLIAN SYNDROMEJacobsen
Page 190 and 191: TRIPLOIDYFig. 9.1 Triploidy at 16 +
Page 192 and 193: TRIPLOIDYFig. 9.7 Triploidy. Margin
Page 194 and 195: TRISOMY 8Holzgreve W, Miny P, Holzg
Page 196 and 197: TRISOMY 13ReferencesHengstschlager
Page 198 and 199: TRISOMY 13Fig. 9.16 Trisomy 13. Bil
Page 200 and 201: TRISOMY 13Fig. 9.21 Trisomy 13. Dou
Page 202 and 203: TRISOMY 18Scope: NationalNumber of
Page 204 and 205: TRISOMY 18Fig. 9.30 Trisomy 18. Fet
Page 210 and 211: TRISOMY 18Fig. 9.46 Trisomy 18. Sam
Page 212 and 213: TRISOMY 18Fig. 9.52 Trisomy 18. Sam
Page 214 and 215: TRISOMY 21Fig. 9.56 Trisomy 21. Nuc
Page 216 and 217: TRISOMY 21Fig. 9.61Trisomy 21. AV c
Page 218 and 219: TRISOMY 21Fig. 9.67 Trisomy 21. Cro
Page 220 and 221: TURNER SYNDROMETurner SyndromeDefin
Page 222 and 223: TURNER SYNDROMEFig. 9.74 Turner syn
Page 224 and 225: WOLF-HIRSCHHORN SYNDROMEScope: Nati
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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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16 Growth DisturbanceMacrosomiaDefi
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GROWTH DISTURBANCEsurvivors have a
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18 DrugsAnticonvulsive DrugsSubstan
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COCAINE AND HEROINSelf-Help Organiz
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19 AppendixFurther ReadingBenacerra
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III. SCREENINGTable 19.1(Continue)F
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III. SCREENINGTable 19.1(Continue)S
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APPENDIXCardiacfindingsThoracoabdom
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APPENDIXExtremities,skeletal findin
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APPENDIXmmmm351203095 %11010095 %25
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APPENDIXmm60mm14555045403595 %5 %12
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APPENDIXmm90mm7080706095 %5 %605095
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APPENDIXmm25mm252095 %2095 %155 %15
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APPENDIXcm40PI5,0354,5304,03,5253,0
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APPENDIXPI3,53,02.52,01,51,00,50,02
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INDEXesophageal atresia 72extrasyst
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INDEXGgallbladder 8, 139gastrointes
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INDEXtrisomy 13 188trisomy 18 194va
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INDEXSmith-Lemli-Optitz syndrome 27
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INDEXwhite spot 232-3Wildervancksyn
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