ultrasound diagnosis of fatal anomalies

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PENA–SHOKEIR SYNDROMEPena–Shokeir Syndrome (Pseudotrisomy 18)Definition: Originally this is a heterogeneouscomplex of malformations, with a similarphenotype to trisomy 18. It consists of growthrestriction, hydramnios, joint contractures, facialdysmorphism and aplasia of the lungs.Incidence: This is estimated at one in 12 000births.First described in 1974 by Pena and Shokeir.Origin/genetics: Heterogeneous, mostly autosomal-recessiveinheritance; sporadic cases arealso known. X-chromosomal inheritance hasalso been described. The risk of recurrence lies at10–15%.Ultrasound findings: Severe growth restriction,with hydramnios, a short umbilical cord, verythin cerebral cortex, widening of the cerebralventricles, polymicrogyria. Craniofacial anomaliessuch as hypertelorism, microgenia, webbedneck, deep-set ears, hooked nose. Anomalies ofthe extremities: clenched fist as in trisomy 18,short limbs, abnormally shaped fingers and toes(cylindrical shape), rocker-bottom feet, reducedbone density. Anomalies that are not charac-Fig. 11.34 Pena–Shokeir syndrome. Fetal neck,showing cystic hygroma at 20 + 4 weeks.Fig. 11.35 Pena–Shokeir syndrome. Fetal profile,demonstrating retrogenia at 20 + 4 weeks in a fetuswith Pena–Shokeir syndrome.4267
SELECTED SYNDROMES AND ASSOCIATIONSFig. 11.36 Pena–Shokeir syndrome. Fetal hydrothoraxat 20 + 4 weeks.Fig. 11.37 Pena–Shokeir syndrome. Clinodactylyof the hand at 20 + 4 weeks.12345Fig. 11.38 Pena–Shokeir syndrome. Malpositioningof the foot at 20 + 4 weeks.268
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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
Page 226 and 227: WOLF-HIRSCHHORN SYNDROMEFig. 9.82 W
Page 228 and 229: 10 Soft Markers of ChromosomalAberr
Page 230 and 231: ECHOGENIC BOWELEchogenic BowelDefin
Page 232 and 233: ECHOGENIC KIDNEYSEchogenic KidneysD
Page 234 and 235: MILD VENTRICULOMEGALYAssociated syn
Page 236 and 237: SHORT FEMURNicolaides KH, Snijders
Page 238 and 239: CHOROID PLEXUS CYSTSClinical manage
Page 240 and 241: SINGLE UMBILICAL ARTERYHoward RJ, T
Page 242 and 243: WHITE SPOTFig. 10.15 White spot. Th
Page 244 and 245: Selected Syndromesand Associations
Page 246 and 247: APERT SYNDROMEKaryotyping (differen
Page 248 and 249: BECKWITH-WIEDEMANN SYNDROMEBeckwith
Page 250 and 251: CHARGE ASSOCIATIONFig. 11.7 Body st
Page 252 and 253: Cornelia de Lange Syndrome (Brachma
Page 254 and 255: FREEMAN-SHELDON SYNDROMEOrigin/gene
Page 256 and 257: FRYNS SYNDROMEFig. 11.9 Fryns syndr
Page 258 and 259: HYDROLETHALUSDillon E, Renwick M, W
Page 260 and 261: KLIPPEL-TRÉNAUNAY-WEBER SYNDROMEBa
Page 262 and 263: LARSEN SYNDROMEMeholic AJ, Freimani
Page 264 and 265: MECKEL-GRUBER SYNDROMEMeckel-Gruber
Page 266 and 267: MECKEL-GRUBER SYNDROMEFig. 11.23 Me
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 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
Page 290 and 291: VACTERL ASSOCIATIONFig. 11.54 VACTE
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 316 and 317: CONJOINED TWINSFig. 15.6 Conjoined
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
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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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