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首页> 外文期刊>The journal of obstetrics and gynaecology research >Clinical and cytogenetic results of a large series of amniocentesis cases from Turkey: Report of 6124 cases
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Clinical and cytogenetic results of a large series of amniocentesis cases from Turkey: Report of 6124 cases

机译：土耳其一系列羊膜穿刺术的临床和细胞遗传学结果：报告6124例

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Aim: The aim of this study was to document the clinical and cytogenetic results of a large series of amniocentesis (AS) cases from Turkey. Material and Methods: Second-trimester amniocentesis cases performed in Suleymaniye Maternity Hospital for Research and Training between January 2007 and December 2011 were included. Results: During this period, 6124 AS were performed. Indications were increased risk in maternal serum screening (MSS) (56%), advanced maternal age (29%) and pathologic ultrasound finding (11.5%). Most frequent MSS abnormality was abnormal triple test result (58%). Overall culture success rate was 98.8%. Chromosomal abnormality was detected in 215 (3.6%) of the 6052 cytogenetic results (74.9% numerical, 25.1% structural). Most frequent numerical chromosomal abnormality was trisomy 21 (61.9%). Clinically insignificant polymorphisms were the most frequent structural changes (n = 571). Most frequent polymorphism was increase in heterochromatin region in the 1st chromosome (n = 158). Advanced maternal age had a positive predictive value of 5.2%. Among the MSS tests, the combined test had the highest positive predictive value (5.2%). Conclusions: In our study, abnormal MSS (and among these, abnormal triple test result)was the most frequent indication for amniocentesis. Our overall culture success rate was 98.8%. Frequency of major chromosomal abnormality was 3.2% and trisomy 21 was the most frequent abnormality.
机译：目的：本研究的目的是记录土耳其大量羊膜穿刺术（AS）病例的临床和细胞遗传学结果。材料和方法：纳入2007年1月至2011年12月在Suleymaniye妇产科研究和培训医院进行的孕中期羊膜穿刺术病例。结果：在此期间，进行了6124次AS。适应症包括增加孕妇血清筛查（MSS）（56％），高龄产妇年龄（29％）和病理超声检查（11.5％）的风险。 MSS异常最常见的是三重检测结果异常（58％）。总体文化成功率为98.8％。在6052个细胞遗传学结果中，有215个（3.6％）检测到染色体异常（数值为74.9％，结构为25.1％）。最常见的数字染色体异常是21三体性（61.9％）。临床上无意义的多态性是最常见的结构变化（n = 571）。最常见的多态性是第一条染色体的异染色质区域增加（n = 158）。较高的产妇年龄有5.2％的阳性预测值。在MSS测试中，组合测试的阳性预测值最高（5.2％）。结论：在我们的研究中，MSS异常（其中包括三重检测结果异常）是羊膜腔穿刺术的最常见指征。我们的整体文化成功率为98.8％。主要染色体异常的发生率为3.2％，三体性21是最常见的异常。

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