NIPT-plus在高龄孕妇产前筛查中的应用

Application of NIPT-plus for prenatal screening in elderly pregnant women

目的 探讨拒绝产前诊断的高龄孕妇(年龄≥35岁)行扩展性无创产前基因检测技术(NIPT-plus)的可行性。方法 回顾性分析本中心行NIPT-plus的689名高龄孕妇的临床资料。以羊水产前诊断为金标准,验证NIPT-plus检测结果的一致性。结果 NIPT-plus检测中,共筛出24例高风险,包括21-三体、18-三体、性染色体异常各3例,微缺失微重复14例,其他染色体异常1例。21例高风险孕妇行羊水穿刺产前诊断,3例高风险孕妇拒绝羊穿(产前诊断率87.50%),确诊21-三体2例(阳性预测值100%)、18-三体1例(阳性预测值33.33%)、性染色体异常3例(阳性预测值100%)、微缺失微重复2例(阳性预测值16.67%)。结论 拒绝产前诊断的高龄孕妇可以行NIPT-plus筛查,以减少出生缺陷儿的发生。

Objective To explore the feasibility of extended noninvasive prenatal genetic testing(NIPT-plus) for older pregnant women(age ≥35 years) who refuse prenatal diagnosis. Methods The clinical data of 689 elderly pregnant women who received NIPT-plus were retrospectively analyzed. Taking the prenatal diagnosis of amniotic fluid as the gold standard, the consistency of the NIPT-plus test results was verified. Results In the NIPT-plus test, a total of 24 high-risk cases were screened,including 3 cases of trisomy 21, 3 cases of trisomy 18, 3 cases of sex chromosome abnormality, 14 cases of microdeletion and microduplication, and 1 case of other chromosome abnormality. Twenty-one high-risk pregnant women received amniocentesis prenatal diagnosis, and 3 high-risk pregnant women refused to wear sheep(prenatal diagnosis rate of 87.50%). Two cases of trisomy 21(positive predictive value 100%), one case of trisomy 18(positive predictive value 33.33%), three cases of sex chromosome abnormality(positive predictive value 100%), and two cases of microdeletion and microduplication(positive predictive value 16.67%) were confirmed. Conclusions Older pregnant women who refuse a prenatal diagnosis may undergo NIPT-plus screening to reduce the occurrence of birth-deficient children.