胎儿染色体非整倍体是引起自发性流产最主要的原因，但对于大部分复发性流产（recurrent pregnancy loss，RPL）的夫妇而言，随着自身流产次数的增加，其胎儿染色体异常发生概率降低。因此，RPL的流产物染色体核型分析用于日常的检测价值受到了质疑。通过回顾胎儿染色体异常在RPL人群中的发生率、发生机制，以及流产物遗传学检测的进展，阐述在RPL的临床诊疗过程中流产物基因检测的临床价值。基于目前的研究及临床经验，自然流产两次及以上的RPL夫妇应当接受遗传学咨询；流产物行染色体的检测，如果可能，建议采用二代测序技术。随着胚胎-胎儿遗传学检测技术的进步，更加成熟的检测手段能更大范围地应用于临床，改善RPL夫妇的妊娠结局。%Fetal chromosomal aneuploidy is one of the most common causes of spontaneous abortion. However, the incidence of fetal chromosomal abnormalities in those couples with the recurrent pregnancy loss (RPL) is negatively related to the number of their miscarriages. There is a query on the application of routine karyotype testing in RPL. By reviewing the incidence of fetal chromosomal abnormalities and pathogenesis of RPL, and the advancements in genetic testing of abortion products, the clinical application of genetic testing in diagnosis and treatment of RPL was evaluated. It was recommended that RPL couples get a specialist′s genetic consult, and that the chromosome testing of abortions form RPL couples, the next-generation sequencing technologies if possible, be asked. With the progress of embryo-fetal genetic testing, the pregnancy outcomes of RPL will be significantly improved in the future.
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