复发性自然流产患者绒毛染色体检测及分析

DETECTION AND ANALYSIS OF VILLUS CHROMOSOME IN PATIENTS WITH RECURRENT SPONTANEOUS ABORTION

目的探讨绒毛染色体异常与复发性自然流产(RSA)相关因素间的关系以及高通量基因测序(NGS)技术在RSA绒毛染色体检测方面的应用。方法收集29例RSA患者绒毛组织,应用NGS进行绒毛染色体检测,并分析染色体异常与RSA相关因素(原发、继发、产妇年龄、孕周、流产次数)间的关系。结果29例RSA绒毛样本均检测成功,成功率为100%,其中22例(75.9%)绒毛组织染色体异常,7例(24.1%)染色体检查未发现异常;22例中染色体数目异常21例(95.5%),结构异常1例(4.5%);染色体数目异常以三倍体最多(77.3%),尤其是16号染色体(22.7%);绒毛染色体异常与患者是否原发、继发RSA及其年龄、孕周、流产次数等因素无关(P>0.05),但继发性RSA、高龄、早期流产及流产次数多者绒毛染色体异常率较高。结论胚胎绒毛染色体异常是RSA的主要原因,以染色体数目异常为主,高龄产妇且有继发性RSA、早期多次流产史者孕期应引起临床工作者的密切关注;NGS技术能够在基因水平上检测胚胎染色体,成功率高,尤其适用于流产组织的染色体检测。

Objective To investigate the association between villus chromosomal abnormalities and related factors for recurrent spontaneous abortion(RSA)and the application of next-generation sequencing(NGS)in villus chromosome detection in RSA patients.Methods Villus tissue samples were collected from 29 patients with RSA,and NGS was used for chromosome detection.The association between chromosomal abnormalities and related factors for RSA(primary RSA,secondary RSA,maternal age,gestational weeks,and number of abortions)was analyzed.Results All 29 RSA villus samples were successfully detected,with a success rate of 100%,among which 22(75.9%)had abnormal chromosome and 7(24.1%)had normal chromosome.Among the 22 samples with chromosomal abnormalities,21(95.5%)had chromosomal numerical abnormality and 1(4.5%)had chromosomal structural abnormality.The most common chromosomal numerical abnormality was triploid(77.3%),especially chromosome 16(22.7%).Villus chromosomal abnormalities were not associated with the factors of primary RSA,secondary RSA,maternal age,gestational weeks,and number of abortions(P>0.05),but there was a higher rate of villus chromosomal abnormalities in patients with secondary RSA,older age,early abortion,and multiple abortions.Conclusion Villus chromosomal abnormality of the embryo is the main cause of RSA,and chromosomal numerical abnormality is the most common type of chromosomal abnormality.Parturients with older age,secondary RSA,and a history of multiple early abortions should be closely monitored by clinical workers.NGS can detect embryonic chromosomes at the gene level and has a high success rate,and it is especially suitable for chromosome detection of abortion tissue.