惠州市4372例孕妇无创DNA产前筛查的临床价值

Clinical value of non-invasive prenatal screening of fetal chromosomal aneuploidy in 4372 cases of Huizhou city

目的分析惠州市4372例孕妇无创DNA产前筛查(NIPS)技术在单胎孕妇产前诊断中的应用价值。方法选择2018年4月至2019年12月共4372例孕妇作为研究对象进行NIPS。检测结果高风险者通过染色体核型分析进行确诊,并对所有孕妇进行电话随访跟踪直至胎儿出生。计算NIPS检测的敏感度、特异度和阳性预测值等指标,并分析NIPS效率与孕妇年龄、NT厚度及血清学检测之间的关系。结果NIPS检测出高风险孕妇共18例,其中21-三体14例(假阳性4例),18-三体3例(假阳性1例),13-三体1例(假阳性1例)。NIPS不但能将血清学检测出的真阳性病例全部检出,而且比血清学筛查的假阳性率和假阴性率更低。结果表明高龄(≥40岁)和颈项透明层增厚(≥2.0 mm)均与21-三体高发显著相关。结论NIPS对21-三体和18-三体的准确度高,建议完全替代血清学筛查。

Objective To investigate the clinical application value of non-invasive prenatal screening(NIPS)in prenatal diagnose for 4372 women with single pregnancy in Huizhou city.Methods A total of 4372 pregnant women performed NIPS from April 2018 to December 2019 were selected for retrospective analysis.The high-risk patients were verified by amniocentesis and chromosomal karyotyping.All pregnant women were followed up by telephone until the fetus was born.The sensitivity,specificity,and positive predictive value were calculated,and then the relationship between the efficiency of NIPS and maternal age,NT thickness and serological screening was analyzed.Results A total of 18 high-risk pregnant women were detected by NIPS,including 14 cases with 21-trisomy(4 false positive cases),3 cases with 18-trisomy(1 false positive case)and 1 case with 13-trisomy(1 false positive case).NIPS could identify all those true positive cases detected by serology,and had a rather lower false positive rate and false negative rate.Both advanced age(≥40 years old)and thickened nuchal translucency(≥2.0 mm)were significantly associated with the high incidence rate of 21-trisomy syndrome(P<0.05).Conclusion The accuracy of NIPS for 21-trisomy and 18-trisomy is extremely high,and it is suggested that NIPS can completely replace serological screening.