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頁籤選單縮合
題名 | 333例懷孕中期羊水細胞染色體核型分析=Analysis of Fetal Karyotypes from 333 Cases of Amniocentesis |
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作者姓名(中文) | 蔡麗華; 江瑞雲; 陳雅菁; 潘以如; | 書刊名 | 秀傳醫學雜誌 |
卷期 | 10:1/2 2011.06[民100.06] |
頁次 | 頁9-12 |
分類號 | 417.133 |
關鍵詞 | 羊水細胞; 染色體異常; 產前診斷; Amniotic cells; Chromosomal abnormality; Prenatal diagnosis; |
語文 | 中文(Chinese) |
中文摘要 | 目的:分析妊娠中期進行產前診斷的高危險群孕婦羊水細胞染色體核型,了解此期異常核型出現的頻率、類型及與各種產前診斷適應症的關係。方法:由2007 至2009 年收集了333 例有產前診斷適應症的孕婦(1 例為雙胞胎妊娠),妊娠在16 ∼ 24 週,以超音波定位下進行羊膜腔穿刺術,抽取羊水細胞進行培養及染色體核型分析。結果:發現異常核型8 例,異常核型檢出率為2.40%(8/333),染色體平衡易位最多,佔了37.50%(3/8),其中染色體相互易位1 例,佔異常核型的12.50%(1/8),羅伯森易位2 例,佔25%(2/8);染色體倒轉2 例,佔異常核型25%(2/8);染色體21 三染色體症及透納氏症各1 例,均佔12.50%(1/8);額外標誌染色體1 例(47,XY,+mar mat),佔12.50%(1/8)。結論:有各種產前診斷適應症的高危險群孕婦中,胎兒染色體異常核型的發生率為2.40%(8/333),染色體易位、唐氏症、缺失及倒轉是懷孕中期的主要染色體異常核型。 |
英文摘要 | Objective: To analyze the fetal karyotypes in prenatal diagnosis and the relationship between abnormal karyotypes and the indications of prenatal diagnosis. Methods: Fetal chromosomal karyotypes were examined in 333 pregnant women (16 to 24 weeks of gestation) by amnioantesis between 2007 and 2009. Results: Eight cases of chromosomal abnormalities were detected, with an abnormality rate of 2.40% (8/333). Balanced chromosomal translocation was the major abnormality, with 3 of the 8 cases (37.50%), including 1 case of reciprocal translocation and 2 cases of Robertsonian translocation. Excluding inversion 9 that had normal variation, there were two cases of inversion, inv (2) and inv (7), detected. Both trisomy 21 and 45,X cases had terminated pregnancies. One case with a maternal inherited marker chromosome had a normal phenotype. Conclusion: The frequency of the fetus abnormal chromosomal karyotype in prenatal diagnosis is 2.40%, and chromosomal translocation, trisomy 21, 45,X, and inversion were the major abnormalities found in this study. |
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