ultrasound diagnosis of fatal anomalies

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CONJOINED TWINSFig. 15.6 Conjoined twins. Vaginal scan of dicephalustwin pregnancy at 10 + 1 weeks.Fig. 15.7 Conjoined twins. Cross-section through afetal double thorax in a thoracopagus twin pregnancyat 24 + 2 weeks.Fig. 15.8 Conjoined twins. Thoracopagus: findingsafter birth at 27 weeks of gestation.5307
MULTIPLE PREGNANCY12345cesarean section is indicated for the benefit ofboth the mother and the twins.Procedure after birth: Immediate care of theneonates can prove to be extremely difficult, especiallyif respiratory distress is present. Cardiacmassage is impossible in thoracopagus twins.Surgical intervention is more successful if thereis sufficient time for optimal preparation and if itcan be performed at a much later stage, ratherthan in the immediate neonatal period. Themain aim of the operation is to separate thetwins.Prognosis: This depends on the location andlength of fusion. The prognosis also depends onthe presence of vital organs such as the liver andheart in both twins. If surgical separation is absolutelynecessary in the first 3 weeks after birth,there is a high mortality rate of almost 50%. Surgicalseparation performed between 4 and14 weeks after birth has a 90% survival rate.Self-Help OrganizationTitle: Conjoined Twins InternationalDescription: Support for conjoined twins,their families, and professionals. Offers peersupport, professional counseling, crisis intervention,telephone helpline, pen-pal network,videos. Information and referrals. Peer counselingspeakers bureau. Registry of affectedfamilies. Quarterly newsletter. Membershipdirectory.Scope: International networkFounded: 1996Address: P.O. Box 10895, Prescott, AZ 86304–0895, United StatesTelephone: 520–445–2777Twin Reversed Arterial Perfusion (TRAP sequence)Definition: This is a complex malformation arisingexclusively in monochorionic twins. In thiscase, a rudimentary twin, without head(acranius) or heart (acardius), is being providedby the healthy second twin.Incidence: One in 35 000 births; about one in 150monozygotic twins.ReferencesBarth RA, Filly RA, Goldberg JD, Moore P, Silverman NH.Conjoined twins: prenatal diagnosis and assessmentof associated malformations [published erratum appearsin Radiology 1991; 178: 287]. Radiology 1990;177: 201–7.Cazeneuve C, Nihoul FEC, Adafer M, et al. Conjoined omphalopagoustwins separated at fifteen days of age.Arch Pediatr 1995; 2: 452–5.Chatterjee MS, Weiss RR, Verma UL, Tejani NA, Macri J.Prenatal diagnosis of conjoined twins. Prenat Diagn1983;3:357–61.De Ugarte DA, Boechat MI, ShawWW, Laks H, WilliamsH, Atkinson JB. Parasitic omphalopagus complicatedby omphalocele and congenital heart disease. J PediatrSurg 2002; 37: 1357–8.Hubinont C, Kollmann P, Malvaux V, Donnez J, Bernard P.First-trimester diagnosis of conjoined twins. FetalDiagn Ther 1997; 12: 185–7.Intödy Z, Pálffy I, Hajdu K, Hajdu Z, Török M, Laszlo J.Prenatal diagnosis of thoracopagus in the 19th weekof pregnancy. Zentralbl Gynäkol 1986; 108: 57–61.Karsdorp VH, van den Linden JC, Sobotka PM, Prins H,van den Harten JJ, van VugtJM. Ultrasonographic prenataldiagnosis of conjoined thoracopagus twins: acase report. Eur J Obstet Gynecol Reprod Biol 1991;39: 157–61.Skupski DW, Streltzoff J, Hutson JM, Rosenwaks Z,Cohen J, Chervenak FA. Early diagnosis of conjoinedtwins in triplet pregnancy after in vitro fertilizationand assisted hatching. J Ultrasound Med 1995; 14:611–5.Spitz L, Kiely EM. Experience in the management of conjoinedtwins. Br J Surg 2002; 89: 1188–92.Weingast GR, Johnson ML, Pretorius DH, et al. Difficultyin sonographic diagnosis of cephalothoracopagus.Ultrasound Med 1984; 3: 42–3.Wenzl R, Schurz B, Amann G, Eppel W, Schon HJ, ReinolcE. Diagnosis of cephalothoracopagus: a case report.Ultraschall Med 1992; 13: 199–201.Laboratory parameters: Alpha fetoprotein is elevatedin serum and in amniotic fluid. Acetylcholinesterasetest results are positive in amnioticfluid.Embryology: This probably arises due to vesselanastomoses between monozygotic twinswithin the placenta. The communicating vessels308
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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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Page 268 and 269: MOHR SYNDROMEPrognosis: This is gen
Page 270 and 271: MULTIPLE PTERYGIUM SYNDROMEFig. 11.
Page 272 and 273: MURCS ASSOCIATIONalso be associated
Page 274 and 275: NOONAN SYNDROMENeu-Laxova SyndromeD
Page 276 and 277: PENA-SHOKEIR SYNDROMEPena-Shokeir S
Page 278 and 279: PENA-SHOKEIR SYNDROMEFig. 11.39 Pen
Page 280 and 281: PIERRE ROBIN SEQUENCEFig. 11.42 Pie
Page 282 and 283: SMITH-LEMLI-OPITZ SYNDROMEShprintze
Page 284 and 285: SMITH-LEMLI-OPITZ SYNDROMEFig. 11.4
Page 286 and 287: THROMBOCYTOPENIA-ABSENT RADIUS (TAR
Page 288 and 289: VACTERL ASSOCIATIONsis. Cardiac rha
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Page 292 and 293: CYSTIC FIBROSISSelf-Help Organizati
Page 294 and 295: Other Causes ofFetal Disease andAno
Page 296 and 297: RHESUS INCOMPATIBILITYReferencesAlt
Page 298 and 299: 13 InfectionsCongenital SyphilisDef
Page 300 and 301: PARVOVIRUS B19Parvovirus B19Definit
Page 302 and 303: CYTOMEGALOVIRUS INFECTIONPratlong F
Page 304 and 305: CYTOMEGALOVIRUS INFECTIONFig. 13.4
Page 306 and 307: 14 Placenta, Cord, and AmnioticFlui
Page 308 and 309: CYSTS OF THE UMBILICAL CORDCysts of
Page 310 and 311: OLIGOHYDRAMNIOSOligohydramniosDefin
Page 312 and 313: have fatal consequences, leading to
Page 314 and 315: DETERMINATION OF ZYGOSITYFig. 15.4
Page 318 and 319: TWIN REVERSED ARTERIAL PERFUSIONmay
Page 320 and 321: TWIN-TO-TWIN TRANSFUSION SYNDROMESc
Page 322 and 323: TWIN-TO-TWIN TRANSFUSION SYNDROMEna
Page 324 and 325: 16 Growth DisturbanceMacrosomiaDefi
Page 326 and 327: GROWTH DISTURBANCEsurvivors have a
Page 328 and 329: 18 DrugsAnticonvulsive DrugsSubstan
Page 330 and 331: COCAINE AND HEROINSelf-Help Organiz
Page 332 and 333: 19 AppendixFurther ReadingBenacerra
Page 334 and 335: III. SCREENINGTable 19.1(Continue)F
Page 336 and 337: III. SCREENINGTable 19.1(Continue)S
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
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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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