孕妇外周血无创基因检测在产前诊断中的应用

Application of noninvasive prenatal testing in maternal peripheral blood in prenatal diagnosis

目的通过评估孕妇外周血无创基因检测(noninvasive prenatal testing,NIPT)的检测结果阳性预测值,评价NIPT在产前诊断应用中的利弊。方法选自2016年1月-2019年12月在济宁医学院附属济宁市第一人民医院行NIPT孕妇资料进行回顾性分析,对NIPT高风险结果经羊水穿刺进一步验证,并对所有行NIPT孕妇进行随访。结果孕妇外周血NIPT结果提示21三体阳性预测值为73.7%(28/38),18三体阳性预测值为58.3%(7/12),13三体阳性预测值为20.0%(1/5),性染色体阳性预测值为30.4%(17/56)。结论 NIPT对21三体阳性预测值最高,其次18三体,13三体最低。对于NIPT筛查高风险孕妇和高龄孕妇仍建议侵入性产前诊断进一步确诊。

Objective To evaluate the clinical indications and positive predictive value of noninvasive prenatal testing( NIPT) in maternal peripheral blood of prenatal diagnosis center of Jining first people ’ s Hospital from 2016 to2019,and evaluate the advantages and disadvantages of NIPT in prenatal diagnosis. Methods The data of pregnant women who underwent NIPT in Jining first people’s Hospital from January 2016 to December 2019 were retrospectively analyzed.The positive results of NIPT were further verified by amniocentesis.All NIPT pregnant women were followed up.Results The results of NIPT showed that the positive predictive value of trisomy 21 was 73.7%( 28/38),that of trisomy 18 was 58.3%( 7/12),that of trisomy 13 was 20.0%( 1/5),and that of sex chromosome was 30.4%( 17/56).Conclusion There are false positive and false negative in NIPT. Invasive prenatal diagnosis is still recommended for highrisk pregnant women in NIPT and elderly pregnant women.