ultrasound diagnosis of fatal anomalies

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TRIPLOIDYFig. 9.7 Triploidy. Marginal dilation of cerebrospinalfluid space and strawberry sign in a fetus with triploidyat 17+1weeks.Fig. 9.8 Triploidy. Dilation of the cerebellomedullarycistern at 14 + 5 weeks.Fig. 9.9 Triploidy. Tetradactyly in a fetus with triploidyat 14+5weeks.3183
CHROMOSOMAL DISORDERSFig. 9.10 Triploidy. Unilateral multicystic renal dysplasiain a case of triploidy at 17+1weeks.Fig. 9.11 Triploidy. Genitals in a fetus with 69,XXXwith hypertrophy of the clitoris at 21+3weeks.12345the pregnancy, she should be warned of the highrisk of developing preeclampsia and hyperthyroidism.Hyperemesis gravidarum and thecalutein cysts of the ovaries are frequent. The β-HCG level is increased, but only in 80% of cases incase of a partial mole. Cesarean section on thebasis of a fetal indication should be avoided.Procedure after birth: Intensive medical measuresare not indicated.Prognosis: The pregnancy usually ends with anearly miscarriage. Otherwise intrauterinedemise or death in the early neonatal stage is thegeneral outcome. In case of mosaic, survival intoearly childhood is rare, with severe mental retardation.Information for the parents: The risk of recurrenceis not increased.ReferencesBeinder E, Voigt HJ, Jager W, Wildt L. Partial hydatidiformmole in a cytogenetically normal fetus. GeburtshilfeFrauenheilkd 1995; 55: 351–3.Benacerraf BR. Intrauterine growth retardation in thefirst trimester associated with triploidy. J UltrasoundMed 1988; 7: 153–4.Blaicher W, Ulm B, Ulm MR, Hengstschlager M,Deutinger J, Bernaschek G. Dandy–Walker malformationas sonographic marker for fetal triploidy. UltraschallMed 2002; 23: 129–33.Harper MA, Ruiz C, Pettenati MJ, Rao PN. Triploid partialmolar pregnancy detected through maternal serumalpha-fetoprotein and HCG screening. Obstet Gynecol1994; 83: 844–6.184
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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,
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
Page 169 and 170: SKELETAL ANOMALIES12345Type II: is
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 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 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
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
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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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