ultrasound diagnosis of fatal anomalies

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HYGROMA COLLIFig. 3.12 Hygroma colli. Same case as before.Cross-section of the fetal neck.Fig. 3.13 Hygroma colli. This finding measures5.6 mm in a fetus with Down syndrome.Fig. 3.14 Hygroma colli. A finding of 4.7 mm in the11+1weeksinafetuswithnonbalanced Robertsontranslocation trisomy 21.265
FACE AND NECKtions, literature, phone support, pen pals, informationand referrals, newsletter, family reunion,symposiums for medical community.Scope: National networkFounded: 1993Address: 1141 Prestige, Frisco, TX 75034,United StatesTelephone: 972–377–4326 (voice/fax)Fax: 972–377–4326E-mail: stayCALM93@aol.com or j1 m1@airmail.netWeb: http://web2.airmail.net/j1 m1/ReferencesBoyd PA, Anthony MY, Manning N, Rodriguez CL, WellesleyDG, Chamberlain P. Antenatal diagnosis of cystichygroma or nuchal pad: report of 92 cases withfollow up of survivors. Arch Dis Child Fetal NeonatalEd 1996; 74: F38 –F42.Droste S, Hendricks SK, Von Alfrey H, Mack LA. Cystichygroma colli: perinatal outcome after prenatal diagnosis.J Perinat Med 1991; 19: 449–54.Fisher R, Partington A, Dykes E. Cystic hygroma: comparisonbetween prenatal and postnatal diagnosis. JPediatr Surg 1996; 31: 473–6.Gilbert B, Yardin C, Briault S, et al. Prenatal diagnosis offemale monozygotic twins discordant for Turnersyndrome: implications for prenatal genetic counselling.Prenat Diagn 2002; 22: 697–702.Hösli IM, Tercanli S, Rehder H, Holzgreve W. Cystic hygromaas an early first-trimester ultrasound markerfor recurrent Fryns syndrome. Ultrasound Obstet Gynecol1997; 10: 422–4.Nadel A, Bromley B, Benacerraf BR. Nuchal thickening orcystic hygromas in first- and early second-trimesterfetuses: prognosis and outcome. Obstet Gynecol1993; 82: 43–8.Ozeren S, Yüksel A, Tükel T. Prenatal sonographic diagnosisof type I achondrogenesis with a large cystichygroma [letter]. Ultrasound Obstet Gynecol 1999;13: 75–6.Rosati P, Guariglia L. Transvaginal ultrasound detectionof septated and non-septated cystic hygroma in earlypregnancy. Fetal Diagn Ther 1997; 12: 132–5.Sepúlveda WH, Ciuffardi I. Early sonographic diagnosisof fetal cystic hygroma colli. J Perinat Med 1992; 20:149–52.Tanriverdi HA, Hendrik HJ, Ertan AK, Axt R, Schmidt W.Hygroma colli cysticum: prenatal diagnosis andprognosis. Am J Perinatol 2001; 18: 415–20.12345Goiter (Fetal)Definition: Enlargement of the thyroid.Incidence: Rare.Clinical history/genetics: Sporadic. Pendred syndromeconsists of goiter and neurosensory deafness(autosomal-recessive).Teratogens: Propylthiouracil, iodine, lithium.Embryology: Hypothyroidism is the main causeof development of goiter. This may be due toiodine deficiency, iodine toxication, medicationgiven to the mother for thyroid disease and disturbancein production of thyroid hormones.Hyperthyroidism results from antibodies responsiblefor the stimulation of maternal thyroid,acting on fetal thyroid. Fetal goiter developsin one in 70 cases of mothers suffering fromBasedow disease.Ultrasound findings: Enlargement of fetal thyroidcan be seen in sagittal and horizontal axis. Theneck may be over extended if large lesion is present.Fetal growth restriction is a frequent feature.Earliest prenatal diagnosis has been reported at25 weeks of gestation. Development of hydramniosleads to premature labor. In addition to cardiacinsufficiency, AV block or tachycardia mayfollow.Clinical management: Amniotic fluid alpha fetoproteinand thyroid-stimulating hormone (TSH)determination. Successful treatment of hyperthyroidismafter intra-amniotic injection of thyroidhormones has been reported. Regular sonographiccontrols of hydramnios and cardiacfailure are advised. Monstrous enlargement maycause obstruction of labor. In addition, overextensionof the head may be a hindrance for vaginaldelivery.Procedure after birth: Huge thyroid masses cancause respiratory distress. Emergency tracheostomymay be required. Other therapeuticpossibilities depend on accompanying symptoms.Prognosis: Depends on the cause for the goiter.66
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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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SECOND SCREENINGFig. 1.24 Second sc
Page 24 and 25: SECOND SCREENINGFig. 1.30 Second sc
Page 30: THIRD SCREENINGTable 1.1(Continue)S
Page 33 and 34: 2 The Central Nervous Systemand the
Page 35 and 36: THE CENTRAL NERVOUS SYSTEM AND THE
Page 69 and 70: FACE AND NECKFig. 3.2 Cleft lip and
Page 71 and 72: FACE AND NECKFig. 3.7 Cleft lip and
Page 73: FACE AND NECKFig. 3.9 Hygroma colli
Page 77 and 78: FACE AND NECKFig. 3.17 Fetal goiter
Page 79 and 80: THORAXFig. 4.1 Congenital cystic ad
Page 81 and 82: THORAXEsophageal Atresia12345Defini
Page 83 and 84: THORAXFig. 4.7 Primary fetal hydrot
Page 85 and 86: THORAXReferencesBecker R, Arabin B,
Page 87 and 88: THORAXFig. 4.15 Left-sided diaphrag
Page 89 and 90: 5 The Heart12345General Considerati
Page 91 and 92: THE HEART12345tricle, and pulmonary
Page 93 and 94: THE HEARTFig. 5.4 Complete atrioven
Page 95 and 96: THE HEARTFig. 5.9 Atrioventricular
Page 97 and 98: THE HEARTFig. 5.10 Atypical four-ch
Page 99 and 100: THE HEARTFig. 5.11 Ebstein anomaly,
Page 101 and 102: THE HEARTFig. 5.14 Ectopia cordis.
Page 103 and 104: THE HEARTFig. 5.16 Tetralogy of Fal
Page 105 and 106: THE HEART12345Associated syndromes:
Page 107 and 108: THE HEARTFig. 5.25 Hypoplastic left
Page 109 and 110: THE HEARToccur concomitantly. In ad
Page 111 and 112: THE HEARTFig. 5.28 Transposition of
Page 113 and 114: THE HEARTFig. 5.30 Ventricular sept
Page 115 and 116: 6 AbdomenAnal Atresia12345Definitio
Page 117 and 118: ABDOMENimportant to differentiate b
Page 119 and 120: ABDOMENNyberg DA, Resta RG, Luthy D
Page 121 and 122: ABDOMENFig. 6.4 Gastroschisis. Loop
Page 123 and 124: 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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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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