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Information Journal Paper

Title

TRISOMY 18 (EDWARDS SYNDROME)

Author(s)

POURISA M.

Pages

  132-132

Keywords

Not Registered.

Abstract

 Description and DefinitionSynonym: Edward syndrome Characterized by malformations of multiple organ systems, trisomy 18 has an incidence of 3 in 10000 live births. Abnormalities detectable by ultrasound Common findings Agenesis of the corpus callosum Choroid plexus cysts Posterior fossa abnormalities Micrognathia Low-set ears Microphthalmous Hypertelorism Short radial ray Clenched hand with overlapping index finger Clubbed foot Rocker-bottom foot Renal anomalies hydronephrosis Omphalocele Diaphragmatic hernia Cryptorchidism Heart defects Single umbilical artery Intrauterine growth restriction Polyhydramnios Nuchal lucency Occasional findings Meningomyelocele Ventriculomegaly Cleft lip and plate Major differential diagnoses Freeman-Sheldon syndrome (clenched hands and intrauterine growth restriction) Pena Shokeir syndrome (pseudo-trisomy 18) Smith-Lemli-Opitz syndrome (clenched hands and intrauterine grown restriction) Triploidy (intrauterine growth restriction) Trisomy 9 Other multiple malformation syndromes associated with intrauterine growth retardation, limb anomalies and/ or heart defects. Ultrasound diagnosis Prenatal; ultrasound diagnosis has been established in the first trimester, based on the finding of a nuchal lucency. Detectable features on the early second trimester include abnormal forearms, clenched hands, clubbed feet, omphalocele and a major heart defect. The features of trisomy 18 are detectable in 80% of affected fetuses in the second trimester. Sonography is often used to evaluate fetuses for the prsence of trisomy 18 when choroid plexus cysts are present, or when the triple screen results in a low level of maternal serum alpha- fetoprotein, estriol and human chorionic  gonadotropin combination. Although trisomy 18 occurs in 1 in 100 fetuses with choroid plexus cysts, if it is an isolated finding, the risk for trisomy 18 falls below 1 in 400. Documenting an open hand is very helpful as most fetuses with trisomy 18 are unable to unclench their hands. Heredity This is an autosomal trisomic syndrome. Natural history and outcome Fetuses with trisomy 18 often die in utero. Ninety percent of live- borns with this abnormality die in the first year of life. The 10% who survive are profoundly mentally retarded and handicapped. Reference: Beryl R Benacerrafe, M.D; Ultrasound of fetal syndromes: (322-324).

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    APA: Copy

    POURISA, M.. (2009). TRISOMY 18 (EDWARDS SYNDROME). IRANIAN JOURNAL OF RADIOLOGY, 6(1 (SUPPLEMENT)), 132-132. SID. https://sid.ir/paper/283768/en

    Vancouver: Copy

    POURISA M.. TRISOMY 18 (EDWARDS SYNDROME). IRANIAN JOURNAL OF RADIOLOGY[Internet]. 2009;6(1 (SUPPLEMENT)):132-132. Available from: https://sid.ir/paper/283768/en

    IEEE: Copy

    M. POURISA, “TRISOMY 18 (EDWARDS SYNDROME),” IRANIAN JOURNAL OF RADIOLOGY, vol. 6, no. 1 (SUPPLEMENT), pp. 132–132, 2009, [Online]. Available: https://sid.ir/paper/283768/en

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    مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources
    مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources
    مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources
    مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources
    مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources
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