ultrasound diagnosis of fatal anomalies

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TRISOMY 21Fig. 9.67 Trisomy 21. Cross-section of the fetal abdomenat 15 + 5 weeks, showing fetal ascites.Fig. 9.68 Trisomy 21. Discrete bilateral dilation ofthe renal pelvis at 17+2weeks.Fig. 9.69 Trisomy 21. Fetus at 15 + 5 weeks. Nuchaltranslucency 10.5 mm, ascites, and echogenic bowel(intestines).3209
CHROMOSOMAL DISORDERS12345femur, unusual facial syndrome, hypochondroplasia,thorax dysplasia Jeune, spondyloepiphysealdysplasia, Turner syndrome.Clinical management: Karyotyping, as well asfurther ultrasound screening, including fetalechocardiography. The option of terminating thepregnancy may be discussed with the parents,depending on their religious and ethical views. Ifthe parents are willing to accept a child withDown syndrome, then the pregnancy should bemanaged as a high-risk pregnancy, to avoid secondarycomplications. The prognosis dependson the extent of the cardiac lesion. The severityof mental impairment is not predictable at theprenatal stage. Duodenal atresia can cause hydramniosand lead to premature labor. Fetalmonitoring during labor is carried out, and obstetricmeasures taken as necessary. It is advisableto deliver the mother in a perinatal centerwhere a pediatrician can be present at the timeof birth. He or she should be informed of theanomalies to be expected, as diagnosed with ultrasoundscreening.Procedure after birth: Therapeutic measures areneeded soon after birth. Surgical intervention isneeded earliest for intestinal anomalies. Cardiaclesions rarely cause symptoms requiring surgicaltreatment in the immediate neonatal stage.Prognosis: Cardiac anomalies are mainly responsiblefor the high rate of neonatal mortality.The rate of mortality remains there after relativelystable until 40 years, and increases rapidlydue to premature ageing. The intelligencequotient lies between 50 and 80 in childhood,but decreases as the patient gets older.Recommendation for the mother: In sporadiccases, the recurrence risk lies 1% above the riskfor the maternal age, but for translocationtrisomy 21, the risk is considerably higher.Genetic counseling is recommended. In the subsequentpregnancy, diagnosis of trisomy can beexcluded at 11 to 12 weeks by chorionic villussampling. Using nuchal translucency measurements(11–13 weeks), an effective screening programcan also be offered to younger women.However, diagnosis of Down syndrome with absolutecertainty is only possible using invasiveprenatal diagnostic procedures. Self-help organizationsprovide very good support for the affectedparents.Self-Help OrganizationTitle: National Down Syndrome CongressDescription: Support, information and advocacyfor families affected by Down syndrome.Promotes research and public awareness.Serves as a clearing-house and network forparent groups. Newsletter ($25/y). Annualconvention, phone support, chapter developmentguidelines.Scope: NationalNumber of groups: 600 + parent group networksFounded: 1974Address: 7000 Peachtree-Dunwoody Rd.,Atlanta, GA 30328, United StatesTelephone: 1–800–232-NDSC or 770–604–9500Fax: 770–604–9898E-mail: NDSCcenter@aol.comWeb: http://www.NDSCcenter.orgReferencesACOG Practice Bulletin. Clinical management guidelinesfor obstetrician-gynecologists: prenatal diagnosis offetal chromosomal abnormalities. Obstet Gynecol2001; 97: 1–12.Gekas J, Gondry J, Mazur S, Cesbron P, Thepot F. Informedconsent to serum screening for Down syndrome:are women given adequate information. PrenatDiagn 1999; 19: 1–7.Graupe MH, Naylor CS, Greene NH, Carlson DE, Platt L.Trisomy 21: second-trimester ultrasound. Clin Perinatol2001; 28: 303–19.Jenderny J, Schmidt W, Hecher K, et al. Increased nuchaltranslucency, hydrops fetalis or hygroma colli: a newtest strategy for early fetal aneuploidy detection.Fetal Diagn Ther 2001; 16: 211–4.Lai FM, Woo BH, Tan KH, et al. Birth prevalence of Downsyndrome in Singapore from 1993 to 1998. SingaporeMed J 2002; 43: 70–6.Nyberg DA. Ultrasound markers of fetal Down syndrome.JAMA 2001; 285: 2856.Rosati P, Guariglia L. Early transvaginal measurement ofcephalic index for the detection of Down syndromefetuses. Fetal Diagn Ther 1999; 14: 38–40.Souter VL, Nyberg DA, El-Bastawissi A, Zebelman A,Luthhardt F, Luthy DA. Correlation of ultrasoundfindings and biochemical markers in the secondtrimester of pregnancy in fetuses with trisomy21. Prenat Diagn 2002; 22: 175–82.210
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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
Page 167 and 168: SKELETAL ANOMALIESUltrasound findin
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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 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 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
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
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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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