ultrasound diagnosis of fatal anomalies

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SMITH–LEMLI–OPITZ SYNDROMEFig. 11.46 Smith–Lemli–Opitz syndrome. ColorcodedDoppler imaging of the fetal heart, demonstratingthe membranous VSD in Smith–Lemli–Opitzsyndrome (courtesy of Dr. Lebek).Fig. 11.47 Smith–Lemli–Opitz syndrome. Hexadactylyof the foot (courtesy of Dr. Lebek).Fig. 11.48 Smith–Lemli–Opitz syndrome. Demonstrationof the renal artery, showing an atypicalvascular pattern in a fetus with Smith–Lemli–Opitzsyndrome at 21 weeks (courtesy of Dr. Lebek).4275
SELECTED SYNDROMES AND ASSOCIATIONSFig. 11.49 Smith–Lemli–Opitz syndrome. Cystichygromaoftheneckdetectedat11+0weeks(courtesyof Dr. Lebek).Fig. 11.50 Smith–Lemli–Opitz syndrome. AV canalat11+0weeks(courtesy of Dr. Lebek).12345Fig. 11.51Smith–Lemli–Opitz syndrome.Hexadactyly of the foot, 11+0weeks(courtesy ofDr. Lebek).276
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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
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 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 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
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
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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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