English  |  正體中文  |  简体中文  |  Items with full text/Total items : 90120/105278 (86%)
Visitors : 8949846      Online Users : 74
RC Version 6.0 © Powered By DSPACE, MIT. Enhanced by NTU Library IR team.
Scope Tips:
  • please add "double quotation mark" for query phrases to get precise results
  • please goto advance search for comprehansive author search
  • Adv. Search
    HomeLoginUploadHelpAboutAdminister Goto mobile version


    Please use this identifier to cite or link to this item: http://asiair.asia.edu.tw/ir/handle/310904400/16382


    Title: Prenatal diagnosis of monosomy 17p (17p13.3->pter) associated with polyhydramnios, intrauterine growth restriction, ventriculomegaly and Miller-Dieker lissencephaly syndrome in a fetus
    Authors: ;Lin, Chin-Yi;陳持平;Chen, Chih-Ping;Liau, Chiung-Ling;Su, Pen-Hua;Tsao, Teng-Fu;Chang, Tung-Yao;Wang, Wayseen
    Contributors: 生物科技學系
    Keywords: chromosome 17p13.3 deletion;lissencephaly;magnetic resonance imaging;Miller-Dieker syndrome;ultrasound;ventriculomegaly
    Date: 2009-12
    Issue Date: 2012-11-23 17:12:20 (UTC+8)
    Abstract: "Objective
    To present the prenatal magnetic resonance imaging (MRI) and ultrasound findings of Miller-Dieker lissencephaly syndrome (MDLS) associated with chromosome 17p13.3 deletion in a fetus.

    Case Report
    A 30-year-old, primigravid woman was referred to the hospital at 31 weeks' gestation because of intrauterine growth restriction (IUGR) and polyhydramnios detected by ultrasound. The pregnancy was uneventful until 31 weeks of gestation when IUGR and polyhydramnios were first noted. Level II ultrasound at 31 weeks' gestation showed fetal biometry equivalent to 27 weeks' gestation, an amniotic fluid index of 33.4 cm, ventriculomegaly, and abnormal sulcal development with absence of gyri and sulci, and a shallow Sylvian fissure. Other organs were unremarkable. Subsequent amniocentesis revealed a 46,XY,del(17)(p13.3) karyotype. Ultrafast fetal MRI performed at 34 weeks of gestation revealed agyria/pachygyria, a figure-eight appearance of the brain, a wide and shallow Sylvian fissure, enlarged subarachnoid space, ventriculomegaly, and polyhydramnios. At 35 weeks' gestation, a 1,346-g male baby was delivered with facial dysmorphism, characteristic of MDLS. Postnatal MRI confirmed the prenatal diagnosis.

    Conclusion
    Polyhydramnios, IUGR and ventriculomegaly are important prenatal ultrasound markers of MDLS. Prenatal diagnosis of these markers should include a detailed investigation of cerebral sulci and fissures, and genetic analysis for MDLS. Fetal MRI is helpful for the diagnosis of lissencephaly.
    Relation: Taiwanese Journal of Obstetrics & Gynecology
    Appears in Collections:[生物科技學系] 期刊論文

    Files in This Item:

    File Description SizeFormat
    index.html0KbHTML118View/Open


    All items in ASIAIR are protected by copyright, with all rights reserved.


    DSpace Software Copyright © 2002-2004  MIT &  Hewlett-Packard  /   Enhanced by   NTU Library IR team Copyright ©   - Feedback