从351例胎儿染色体异常的分布探讨高龄孕妇产前筛查及诊断的流程

Exploration of the process of prenatal screening and diagnosis for women with advanced maternal age based on results of 351 cases of fetal chromosomal abnormalities

目的 探讨适合高龄孕妇的产前筛查及诊断流程.方法 对2014年1月至2017年11月因单纯高龄或同时伴有唐氏筛查高危、无创产前检测(non-invasive prenatal testing,NIPT)异常、超声提示胎儿发育异常、夫妻之一为染色体异常携带者、不良孕产史等行羊水穿刺的孕妇进行回顾分析,通过胎儿染色体异常的检出情况分析并推测单纯高龄或伴其他产前诊断指征的孕妇行唐氏筛查以及NIPT胎儿染色体异常的检出情况.结果 共发现351例高龄孕妇的胎儿存在染色体异常,按产前诊断指征分:单纯高龄196例,高龄伴唐筛高危26例,高龄伴NIPT异常96例,高龄伴胎儿超声异常14例,高龄伴夫妻之一染色体异常15例,高龄伴不良孕产史4例.假设所有高龄孕妇均只进行唐氏筛查,对染色体异常胎儿的检出率为51.0%;若所有高龄孕妇均只进行NIPT,检出率为69.2%;若所有高龄孕妇行唐氏筛查后再行NIPT,检出率可达84.6%.高龄伴夫妻之一染色体异常的孕妇行唐氏筛查或NIPT检出率均仅为6.7%.结论 高龄孕妇若同时行唐氏筛查及NIPT,对胎儿染色体异常的检出率高于仅进行唐氏筛查或NIPT一项检查者.高龄伴夫妻之一染色体异常者建议直接进行有创产前诊断.

Objective To explore the suitable process for prenatal screening and diagnosis for women with advanced maternal age.Methods From January 2014 to November 2017,the indications and distributions of prenatal diagnosis for women with advanced maternal age only or accompanying with positive maternal serum test screening and non-invasive prenatal testing(NIPT),abnormal fetal ultrasound,one harboring chromosomal abnormalities,negative reproductive history were analyzed.The rate of fetal chromosomal abnormalities was compared between different groups.Results The 351 pregnant women with fetal chromosomal abnormalities have included 196 cases with advanced maternal age,26 with positive maternal serum test,96 with high-risk by NIPT,14 with abnormal fetal ultrasound,15 with one partner harboring chromosomal abnormalities,and 4 with negative reproductive history.Assuming that all pregnant women had undergone maternal serum test screening or NIPT without amniocentesis,the detection rate of fetal chromosome abnormality would be 51.0%and 69.2%,respectively.However,should these women have receive both tests,the detection rate would be as high as 84.6%.Should those with one partner harboring chromosomal abnormalities undergone maternal serum test screening or NIPT without amniocentesis,the detection rate of fetal chromosome abnormality could only be 6.7%.Conclusion Should pregnant women with advanced maternal age undergo both maternal serum test and NIPT,the detection rate of fetal chromosome abnormality will be higher than those receiving only maternal serum test screening or NIPT.Couples with one partner harboring chromosomal abnormalities should undergone prenatal diagnosis by amniocentesis.