頁籤選單縮合
題名 | Mosaic Trisomy 2 at Amniocentesis: Prenatal Diagnosis and Molecular Genetic Analysis |
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作者姓名(外文) | Chen, Chih-ping; Su, Yi-ning; Chern, Schu-rern; Chen, Yu-ting; Wu, Peih-shan; Su, Jun-wei; Pan, Chen-wen; Wang, Wayseen; | 書刊名 | Taiwanese Journal of Obstetrics & Gynecology |
卷期 | 51:4 2012.12[民101.12] |
頁次 | 頁603-611 |
分類號 | 417.145 |
關鍵詞 | Amniocentesis; Mosaicism; Mosaic trisomy 2; Prenatal diagnosis; Trisomy 2; |
語文 | 英文(English) |
英文摘要 | Objective: This study aims at presenting prenatal diagnosis of mosaic trisomy 2 and reviewing the literature. Materials, Methods, and Results: A 32-year-old woman underwent amniocentesis at 21 weeks of gestation because of abnormal maternal serum biochemistry. Amniocentesis revealed a karyotype of 47,XY,+2[1]/46,XY[21] in in situ cultures. The single colony with trisomy 2 had two metaphase cells, and both had the karyotype of 47,XY,+2. Repeated amniocentesis was performed at 23 weeks of gestation. Interphase fluorescence in situ hybridization (FISH) analysis on uncultured amniocytes using a 2q11.1-specific probe RP11-468G5 (spectrum green) showed three green signals in 11 of 47 uncultured amniocytes, indicating 23.4% mosaicism for trisomy 2. The cultured amniocytes had a karyotype of 46,XY[20 colonies]. Polymorphic DNA marker analysis excluded uniparental disomy 2. The woman underwent the third amniocentesis at 25 weeks of gestation. Interphase FISH analysis on uncultured amniocytes revealed 9.4% (5/53 cells) mosaicism for trisomy 2. The cultured amniocytes had a karyotype of 46,XY[30 colonies]. Prenatal ultrasound was normal. The parents decided to continue the pregnancy to term, and a 3316-g baby was delivered with no phenotypic abnormalities. Cord blood had a karyotype of 46,XY[40 cells]. Interphase FISH analysis on uncultured urinary cells revealed 8.2% (4/49 cells) mosaicism for trisomy 2. The neonate was normal in growth and psychomotor development at 6 months of age. Conclusion: Prenatal diagnosis of a single colony with two or more cells with trisomy 2 at amniocentesis should alert a clinically significant aneuploidy, and interphase FISH on uncultured amniocytes is useful for rapid confirmation of low-level trisomy 2 mosaicism at amniocentesis. The abnormal cell line of trisomy 2 may disappear after long-term amniocyte cultures. |
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