頁籤選單縮合
題名 | Balanced and Unbalanced Reciprocal Translocation: An Overview of a 30-year Experience in a Single Tertiary Medical Center in Taiwan= |
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作者 | Chang, Yi-wen; Wang, Peng-hui; Li, Wai Hou; Chen, Ling-chao; Chang, Chia-ming; Sung, Pi-lin; Yang, Ming-jie; Cheng, Ling-yi; Lai, Yu-ling; Cheng, Yung-yung; Yeh, Chang-ching; Chang, Wen-hsun; Wang, Shiau-you; Chen, Shang-rong; Yen, Ming-shyen; Chao, Kuan-chong; |
期刊 | Journal of the Chinese Medical Association |
出版日期 | 20130300 |
卷期 | 76:3 2013.03[民102.03] |
頁次 | 頁153-157 |
分類號 | 417.145 |
語文 | eng |
關鍵詞 | Amniocentesis; Reciprocal translocation; Structural chromosomal abnormality; |
英文摘要 | Background: Reciprocal translocation is the most common type of translocation; however, there are only a few studies that address the indications for reciprocal translocation in amniocentesis. Here we share our data, based on 30 years’ experience in a single tertiary center, to investigate the rates and indications for amniocentesis in cases of reciprocal translocations. Methods: A retrospective review of 16,749 pregnant women, who underwent midtrimester amniocentesis between January 1981 and December 2010, was conducted. Seventy-four cases of reciprocal translocation were identified. Results: The percentage of reciprocal translocations in all amniocentesis cases was 0.44% (74/16,749); of these 74 cases, 56 were balanced and 18 unbalanced. De novo abnormality occurred in 23 cases, which constituted 31.1% of all reciprocal translocations. The three major indications for amniocentesis with a diagnosis of reciprocal translocation included advanced maternal age (AMA, 52.7%), a parent with an abnormal karyotype (17.6%), and abnormal biochemical markers in the maternal serum (12.2%). For individual types of reciprocal translocations (balanced and unbalanced), except for the presence of abnormal biochemical markers in maternal serum, both AMA and a parent with an abnormal karyotype were primary indications for amniocentesis. However, the highest percentage of reciprocal translocations in all amniocentesis cases was found in cases involving a parent with an abnormal karyotype (5.16%, 13/252). Conclusion: Patients with a parent who carries an abnormal karyotype should be encouraged to undergo amniocentesis in prenatal consultation, since the risk of a diagnosis of reciprocal translocation can be particularly high. |
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