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    Please use this identifier to cite or link to this item: http://asiair.asia.edu.tw/ir/handle/310904400/16846


    Title: Trisomy 7 mosaicism at amniocentesis: interphase FISH, QF-PCR and aCGH analyses on uncultured amniocytes for rapid distinguishing true mosaicism from pseudomosaicism
    Authors: Chih-Ping Chen;Hsu-Kuang Huang;Yi-Ning Su;Schu-Rern Chern;Jun-Wei Su;Chen-Chi Lee;Dai-Dyi Town;Wen-Lin Chen;Yu-Ting Chen;Wayseen Wang
    Contributors: 生物科技學系
    Date: 2012-03
    Issue Date: 2012-11-23 17:17:39 (UTC+8)
    Abstract: Objective: To present prenatal diagnosis of true trisomy 7 mosaicism.
    Materials, Methods and Results: A 36-year-old woman underwent amniocentesis at 18 weeks of gestation. Amniocentesis revealed a karyotype
    of 47,XY,þ7[20]/46,XY[9]. The parental karyotypes were normal. Repeated amniocentesis was performed at 20 weeks of gestation. Array
    comparative genomic hybridization (aCGH) analysis on uncultured amniocytes manifested a genomic gain in chromosome 7. Quantitative
    fluorescent polymerase chain reaction (QF-PCR) analysis on uncultured amniocytes showed a biparental diallelic pattern with a dosage increase
    in the maternal allele. Interphase fluorescence in situ hybridization (FISH) on uncultured amniocytes revealed three 7q-specific signals in 13 of
    50 (26%) of the cells. The cultured amniocytes had a karyotype of 47,XY,þ7[12]/46,XY[14]. The ultrasound findings were unremarkable. The
    pregnancy was subsequently terminated, and a fetus was delivered with facial dysmorphisms. Postnatal tissue samplings revealed the mosaic
    trisomy 7 level of 37.5% (15/40), 30% (12/40), 42.5% (17/40), 82.5% (33/40), 52.5% (21/40), and 27.5% (11/40) in skin, liver, lungs, placenta,
    membrane, and cord, respectively. The cord blood had a karyotype of 46,XY. PEG1/MEST methylation-sensitive high-resolution melting PCR
    assay of cord blood showed no uniparental disomy for chromosome 7.
    Conclusion: Interphase FISH, QF-PCR, and aCGH analyses on uncultured amniocytes are useful for rapid distinguishing of true mosaicism from
    pseudomosaicism for trisomy 7 at amniocentesis. Cord blood sampling for confirmation of fetal trisomy 7 mosaicism is not practical.
    Copyright  2012, Taiwan Association of Obstetrics & Gynecology. Published by Elsevier Taiwan LLC. All rights reserved.
    Relation: Taiwanese Journal of Obstetrics & Gynecology
    Appears in Collections:[生物科技學系] 期刊論文

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