NIPT及NIPT-plus在IVF胎儿染色体异常筛查中的应用研究

目的探究基于孕妇外周血胎儿游离DNA的无创产前基因检测(NIPT)和拓展性无创产前基因检测(NIPT-plus)在体外受精-胚胎移植(IVF)胎儿染色体异常筛查中的应用价值。方法收集2017年5月—2019年10月在复旦大学附属妇产科医院接受NIPT及NIPT-plus的孕妇,根据其受孕方式分为通过IVF方式受孕(IVF组)和自然受孕(对照组)。对所有研究对象NIPT、NIPT-plus及产前诊断检测结果进行回顾性分析,评价NIPT、NIPT-plus在IVF胎儿染色体异常,包括染色体非整倍体及拷贝数变异(CNV)筛查中的应用价值。结果IVF组孕妇1312例,年龄(32.83±4.02)岁,进行NIPT及NIPT-plus时平均孕周(15.59±2.16)周,其中单胎妊娠925例,双胎妊娠387例;对照组23031例,年龄(30.62±4.77)岁,进行NIPT及NIPT-plus时平均孕周(16.44±2.73)周,其中单胎妊娠22444例,双胎妊娠587例。IVF组NIPT提示21三体(T21)4例(3.05‰),阳性预测值(PPV)为100%;13三体(T13)3例(2.29‰);性染色体异常17例(12.96‰),PPV为55.56%;CNV 3例(2.29‰);其他染色体异常6例(4.57‰),PPV为33.33%。结论NIPT及NIPT-plus在IVF胎儿染色体非整倍体筛查中具有重要价值,常染色体及性染色体三体高风险结果具有较高参考价值;应用于IVF胎儿染色体单体及CNV筛查高风险结果具有一定的预警作用。

NIPT and NIPT-plus in detecting fetal chromosomal abnormalities among IVF pregnant women

Objective To evaluate the roles of non-invasive prenatal testing(NIPT)and NIPT-plus in screening fetal chromosomal abnormalities among in vitro fertilization-embryo transfer(IVF)pregnant women through peripheral blood.Methods Pregnant women undergoing NIPT and NIPT-plus at Obstetrics and Gynecology Hospital of Fudan University from May 2017 to October 2019 were enrolled and classified into 2 groups,IVF group and natural conception(control)group.Through retrospective analysis,the roles of NIPT and NIPT-plus in IVF fetal chromosomal abnormalities,including chromosome aneuploidy and copy number variation(CNV),were evaluated.Results A total of 1312 pregnant women were enrolled as IVF group,and the age was(32.83±4.02)years at gestational(15.59±2.16)weeks when received NIPT and NIPT-plus,with singleton pregnancy 925 cases and twin pregnancy 387 cases.The age of control group was(30.62±4.77)years at gestational(16.44±2.73)weeks when received NIPT and NIPT-plus,with singleton pregnancy 22444 cases and twin pregnancy 587 cases.In IVF group,4 cases(3.05‰)were screened out trisomy 21(T21),and the positive predictive value(PPV)was 100%;3 cases(2.29‰)were screened out trisomy 13(T13);17 cases(12.96‰)were screened out sex chromosome abnormality,and the PPV was 55.56%;3 cases(2.29‰)were screened out CNV;6 cases(4.57‰)were screened out other chromosomal abnormalities,and the PPV was 33.33%.Conclusions NIPT and NIPT-plus are valuable in chromosomal aneuploidy screening in IVF group.NIPT and NIPT-plus are effective in detecting autosomal and sex chromosome trisomy.When being applied to screening out chromosomal monomer and CNV,NIPT and NIPT-plus have certain value.