210923例孕妇外周血胎儿游离DNA无创产前筛查研究

Analysis of rsulls frum 210923 css of nonr-invasive prenatal testing of fctal froe DNA in peripheral serum ol pregnant women

目的评价孕妇外周血胎儿游离DNA无创产前筛查(non-invasive prenatal testing,NIPT)对胎儿染色体异常产前筛查与产前诊断的临床应用价值。方法收集2017年1月至2020年12月上海市所有产前诊断中心孕妇外周血胎儿游离DNA产前筛查210923例,进行研究分析。结果NIPT筛查出染色体高风险异常孕妇2225例,检出率1.05%;其中850例行羊膜腔穿刺染色体核型产前诊断,确诊506例染色体异常,确诊率59.53%,其中21三体综合征284例、18三体综合征65例、13三体综合征17例、性染色体异常104例、其他染色体异常36例。NIPT筛查中自愿要求检测占51.56%;行羊膜腔穿刺孕妇中,高龄妊娠(≥35岁)占39.85%。经统计分析,高龄妊娠在不同分型染色体异常中有差异(P<0.05)。NIPT实验室检测失败占0.15%,其中主要原因为质控标准未达标。结论对于无明确筛查指征的孕妇,NIPT是优选有效筛查方法;NIPT染色体疾病筛查中,21三体综合征检出率高;NIPT实验室检测失败原因亦值得关注。

Objective To evaluate the fetal chromosomal abnormality screening and diagnosis of Non-invasive prenatal testing of fetal free DNA in peripheral serum of pregnant women.Methods A total of 210923 cases of Nonrinvasive prenatal testing of fetal free DNA in peripheral serum of pregnant women were ollcted from all prenatal diagnosis centers in Shanghai From January 2017 to December 2020.Results NIPT screened 2225 pregnant women with abnormal chromosomal risk,the detection rate was 1.05%。Among them,850 cases underwent prenatal diagnosis of chromosome karyotype by amniocentesis,506 cases were diagnosed with chromosomal abnormality,with a diagnosis rate ol 59.53%,induding 284 cases of T21,65 cases of T18,17 cases of T13,104 cases of sex chromosome a bnormality and 36 cases of other chromosomal abnormality.51.56%of NIPT screening patients requested voluntary testing.Among the pregnant women undergoing amniocentesis,39.85%were advanced age(≥35 years).Statistical analysis showed that there were differences in chrom osome abnormality among different types of pregnant women(P<0.05)。NIPT laboratory test failure accounted for 0.15%,and the main reason was that the quality control standards were not met.Conclusion Invasive puncture chromosome prenatal diagnosis is recommended for advanced age.For pregnant women without definite screening indications,NIPT is the preferred efective screening method.The detection rate of T21 was high in NIPT chromosomal disease screening.The cause of NIPT laboratory test failure is also of concern.