襄阳地区无创基因检测高危孕妇的产前诊断结果分析

Prenatal diagnosis of high-risk pregnant women by noninvasive gene detection in Xiangyang

目的探讨无创基因检测(NIPT)在产前诊断胎儿染色体异常中的应用价值。方法对2016年2月~2019年1月期间,襄阳地区在本院产科进行介入性产前诊断的孕妇中,提示为NIPT高危的97例孕妇为研究对象,根据NIPT高危类型分组,对羊水染色体核型和染色体畸变检测-100kb(CNVs)结果进行回顾性分析并部分电话随访。结果424例有产前诊断指征的孕妇,经染色体核型及CNVs确诊,检出异常染色体86例,异常检出率20.28%(86/424),染色体核型类型涵盖非整倍体、嵌合体、倒位、缺失和微缺失;NIPT高危组检出37例T21,14例T18,3例T13,10例性染色体非整倍体(SCAs),2例inv(9),2例缺失(4、5号染色体)、1例微缺失(8号染色体),28例正常染色体,T21、T18、T13的符合率分别为90.2%、87.5%、50%,SCAs的符合率为41.7%,其他染色体异常的符合率为30%。结论NIPT对T21、T18、T13、SCAS检测有较高的符合率,对染色体微重复微缺失也有一定提示作用,目前是特异性和准确率最高的一种筛查技术。但NIPT检测范围有限,存在结果不一致情况,NIPT高危仍须行介入性产前诊断,多种产前诊断技术联合检测可提高染色体病的检出率。

Objective:To explore the value of noninvasive gene testing(NIPT)in prenatal diagnosis of fetal chromosomal abnormalities.Methods:For the period from February 2016 to January 2019,Among 424 cases of single live fetus pregnant women who underwent interventional prenatal diagnosis in obstetrics department of our hospital,it is suggested that 97 pregnant women at high risk of NIPT are the subjects of study,Grouping according to NIPT high-risk types,Chromosome karyotype and chromosome aberration detection of amniotic fluid-100 kb(CNVs)were analyzed retrospectively and followed up by telephone.Results:424 pregnant women with indications of prenatal diagnosis,fhe diagnosis was confirmed by chromosome karyotype and CNVs.Detection of Abnormal Chromosomes in 86 Cases,the abnormal detection rate was 20.28%(86/424),chromosome karyotypes include aneuploidy,chimera,inversion,deletion and microdeletion;In NIPT high risk group,37 cases of T21,14 cases of T18,3 cases of T13,10 cases of sexual chromosome aneuploidy(SCAs),2 cases of inversion(9),2 cases of deletion(chromosome 4,5),1 case of microdeletion(chromosome 8),28 cases of normal chromosome were detected.The coincidence rates of T21,T18 and T13 were 90.2%,87.5%and 50%,respectively.The coincidence rates of SCAs and other chromosomal abnormalities were 41.7%and 30%,respectively.Conclusion:NIPT has a high coincidence rate for the detection of T21,T18,T13 and SCAs,and has a certain effect on chromosome microduplication microdeletion.At present,NIPT is a screening technology with the highest specificity and accuracy.However,the range of NIPT detection is limited and the results are inconsistent.Interventional prenatal diagnosis is still necessary for NIPT at high risk.Combined detection of multiple prenatal diagnostic techniques can improve the detection rate of chromosomal diseases.