Wu Yi, Wang Yanlin, Tao Jiong, Han Xu, Zhao Xinrong, Liu Chunmin, Gao Li, Cheng Weiwei
Prenatal Diagnosis Center, International Peace Maternity & Child Health Hospital, Shanghai Jiao Tong University, School of Medicine, China.
Prenatal Diagnosis Center, Shanghai First People's Hospital, Shanghai Jiao Tong University, School of Medicine, China.
Eur J Obstet Gynecol Reprod Biol. 2017 May;212:44-50. doi: 10.1016/j.ejogrb.2017.03.007. Epub 2017 Mar 7.
This study aimed to evaluate the detection rate of chromosomal microarray analysis (CMA) in prenatal fetuses compared with conventional karyotype and to assess the additional diagnostic yields of CMA in groups of different indications.
A total of 217 fetuses were divided into seven groups according to different indications. All cases were tested by both CMA and karyotype. The detection rates of CMA and karyotype were evaluated. The increased value of CMA in each group was also calculated.
A total of 35 cases were detected to have a pathogenic result by CMA, indicating the overall detection rate of 16.1%. Nine more cases were detected only by CMA, indicating an incremental diagnostic yield of 4.2%. The highest incremental value was observed in fetuses with structural defects (6.6%). In 11 cases with known abnormal chromosome anomalies, CMA revealed additional information over conventional karyotyping in 4 fetuses.
The present study convincingly demonstrated the efficiency of CMA in detecting feal chromosomal rearrangements. CMA significantly improves the detection rate in fetuses with structural defects and provides helpful information for fetuses with known abnormal chromosomes but without clear diagnosis.
本研究旨在评估染色体微阵列分析（CMA）在产前胎儿中的检测率，并与传统核型分析进行比较，同时评估CMA在不同指征组中的额外诊断收益。
根据不同指征将217例胎儿分为七组。所有病例均接受CMA和核型分析检测。评估CMA和核型分析的检测率。还计算了每组中CMA的增加值。
共有35例经CMA检测出有致病结果，总体检测率为16.1%。另有9例仅通过CMA检测出，增量诊断收益为4.2%。在有结构缺陷的胎儿中观察到最高增加值（6.6%）。在11例已知染色体异常的病例中，CMA在4例胎儿中揭示了超过传统核型分析的额外信息。
本研究令人信服地证明了CMA在检测胎儿染色体重排方面的有效性。CMA显著提高了有结构缺陷胎儿的检测率，并为已知染色体异常但诊断不明确的胎儿提供了有用信息。
