分类号：R445
出版年·卷·期（页码）：2017·9·第1期（28-33）
DOI:
10.13470/j.cnki.cjpd.2017.01.008
-----摘要：-------------------------------------------------------------------------------------------
目的 探讨不同超声异常种类与胎儿染色体重复/缺失的关系。方法 回顾性分析2012年1月1日至2014年12月31日，在本院产前诊断中心就诊的 1274例产前超声异常胎儿的aCGH检测结果及核型分析结果，分层统计不同系统超声异常种类检出染色体异常的阳性率。结果 常规染色体核型分析检出9.2%胎儿染色体异常，而aCGH检测检出13.8%染色体异常。多系统结构畸形与多发非结构异常胎儿组检出染色体异常＞20%，检出致病性染色体重复/缺失10.3%～18.7%；单系统结构畸形与单发非结构指标异常胎儿组检出染色体异常9.3%～11.3%，检出致病性染色体重复/缺失3.6%。结论 超声异常胎儿可检出9.3%～18.7%致病性染色体重复/缺失，临床咨询中，应根据畸形情况合理推荐CMA检测，避免漏诊或过度检查。
-----英文摘要：---------------------------------------------------------------------------------------
Objective To investigate the correlation between the abnormal ultrasonic images and detection rates by CMA, which could provide evidence for clinical application of CMA in prenatal diagnosis. Methods Retrospective analysis on results of CMA and conventional karyotyping performed on 1274 fetuses with abnormal ultrasonic imagings from 2012 to 2014. Collecting detection rates by CMA in different sonographic abnormalities groups. Results 1063 cases with abnormal ultrasonic images were performed conventional karyotyping, 9.2% of which presented chromosomal abnormalities. And 13.8% of 1274 cases presented chromosomal abnormalities by CMA test. The detection rate in multi-structural anomalies group and multi-nonstructural anomalies group were both larger than 20%, and 10.3%～18.7% of them identified pathogenetic chromosomal anomalies. Otherwise, the detection rate in single systematical structural anomaly group and single nonstructural anomaly group were 9.33%～11.3%, and 3.6% of them identified pathogenetic chromosomal anomalies. Conclusions Among cases with ultrasound structural anomalies, 9.3%～18.7% of them presented chromosomal abnormalities by CMA test. In clinical prenatal genetic counseling, CMA should be reasonably recommended to parents to avoiding missed or over-diagnosis.
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赵馨,王逾男 ,卢建 ,郭莉,黄伟伟,陈汉彪,何天文,尹爱华.超声异常胎儿的染色体微阵列分析.中国产前诊断杂志,2017,9(1):28-33.
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