ultrasound diagnosis of fatal anomalies

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POLYDACTYLYFig. 8.25 Polydactyly. Preaxial hexadactyly seen ina fetus after termination of pregnancy.Fig. 8.26 Oligodactyly. Tetradactyly in a fetus withtriploidy at 14+5weeks.Fig. 8.27 Adactyly. Seen at 22 weeks, in a fetuswith Adams–Oliver syndrome.2165
SKELETAL ANOMALIESClinical management: Further ultrasoundscreening, including fetal echocardiography andkaryotyping.Procedure after birth: Special treatment is notrequired if the anomaly is isolated.Prognosis: The isolated anomaly does not interferewith a normal healthy life.ReferencesBraithwaite JM, Economides DL. First-trimester diagnosisof Meckel–Gruber syndrome by transabdominalsonography in a low-risk case. Prenat Diagn 1995;15: 1168–70.Bromley B, Shipp TD, Benacerraf B. Isolated polydactyly:prenatal diagnosis and perinatal outcome. PrenatDiagn 2000; 20: 905–8.Bronshtein M, Stahl S, Zimmer EZ. Transvaginal sonographicdiagnosis of fetal finger abnormalities inearly gestation. J Ultrasound Med 1995; 14: 591–5.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 HI: a case reportand a proposed approach to the diagnosis ofSRPS and related conditions. JCU J Clin Ultrasound1985; 13: 284–7.Salamanca A, Padilla MC, Sabatel RM, Motos MA,Stemper K, Gonzalez GF. Prenatal diagnosis of holoprosencephalywith postaxial polydactyly, cardiopathywith normal karyotype. GeburtshilfeFrauenheilkd 1992; 52: 783–5.Wladimiroff JW, Stewart PA, Reuss A, Sachs ES. Cardiacand extra-cardiac anomalies as indicators for trisomies13 and 18: a prenatal ultrasound study. PrenatDiagn 1989; 9: 515–20.Zimmer EZ, Bronshtein M. Fetal polydactyly diagnosisduring early pregnancy: clinical applications. Am JObstet Gynecol 2000; 183: 755–8.12345Radius Aplasia, Radius HypoplasiaDefinition: Complete or partial absence of theradius or distal end of it (base of the hand,thumb). Usually unilateral.Incidence: One in 12 000–30 000 births.Clinical history: Mostly sporadic, but autosomaldominant,autosomal-recessive, and X-linkedinheritance are also observed. It may also be associatedwith some syndromes.Teratogens: Thalidomide, cocaine, valproic acid,high doses of vitamin A.Associated malformations: Cardiac anomaly,thrombocytopenia.Associated syndromes: Bilateral malformationis associated more frequently with a syndrome—e.g., Fanconi anemia, Aase syndrome, thrombocytopenia–absentradius (TAR) syndrome,VACTERL association, Goldenhar syndrome,some forms of trisomy, acrofacial dysostosis,Baller–Gerold syndrome, Cornelia de Lange syndrome,Townes–Brock syndrome, Holt–Oramsyndrome.Ultrasound findings: The radius is bowed ormissing completely. The ulna may also be eitherbent, shortened, or absent. The hand is turned,and the thumb may be missing. In TAR syndrome,the disorder is bilateral. The lower extremitiesmay also be involved. The findings areunilateral in Holt–Oram syndrome, without involvementof the lower limb. The humerus mayalso be absent.Clinical management: Family history is important—isthe marriage consanguineous? Was themother exposed to any teratogens? Further ultrasoundscreening, including fetal echocardiographyand karyotyping. Fetal blood sample(hemoglobin, platelets): if the platelet count isbelow 50 000 (Fanconi anemia, TAR syndrome),platelet infusion and/or delivery by cesareansection is indicated.Procedure after birth: Hematological investigation:is anemia or thrombocytopenia present?Prognosis: This depends on the underlying disorder.Good functional results are usually obtainedafter orthopedic surgery.Self-Help OrganizationTitle: Thrombocytopenia Absent Radius SyndromeAssociationDescription: Information, networking andsupport for families with children with166
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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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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
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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
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Page 177 and 178: SKELETAL ANOMALIESShort Rib-Polydac
Page 179 and 180: SKELETAL ANOMALIESFig. 8.33 Short r
Page 181 and 182: SKELETAL ANOMALIESFig. 8.37 Thanato
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
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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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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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