NIPT在IVF胎儿染色体非整倍体筛查中的应用

To evaluate the use of NIPT in the fetal chromosome aneuploidy of IVF pregnant women

目的评价无创产前筛查(NIPT)在IVF胎儿染色体非整倍体筛查的应用价值。方法收集2016年1月1日至2016年12月31日期间首都医科大学附属北京妇产医院生殖中心通过IVF方式受孕的502例孕妇病例,以同期在北京妇产医院产前诊断中心接受NIPT检测的自然受孕孕妇8838例为对照,回顾性分析孕妇NIPT及产前诊断检查结果,评价IVF胎儿与自然受孕胎儿NIPT及产前诊断检查在产前诊断应用中可能存在的差异。结果 IVF孕妇年龄34.74±3.59岁,NIPT检查时孕周15.68±2.31w,单胎妊娠350例,双胎妊娠152例;对照组孕妇年龄32.68±4.06岁,NIPT检查时孕周16.93±2.89w,单胎妊娠8660例,双胎妊娠178例。IVF孕妇NIPT检查提示18三体高风险单胎妊娠1例(1.99‰),经产前诊断确诊1例;对照组孕妇NIPT检查13、18、21三体高风险61例(6.90‰),经产前诊断确诊51例,排除10例。结论无创产前基因测序应用于IVF胎儿13、18、21号染色体非整倍体筛查具有较高价值。考虑到IVF孕妇年龄、孕周及多胎妊娠率显著高于自然受孕,对IVF受孕胎儿NIPT结果进行判读时应更加谨慎。

Objectives：To evaluate the use of NIPT in the fetal chromosome aneuploidy of IVF pregnant women. Methods：A total of 502 pregnant women who received IVF treatment at reproduction center of Beijing Obstetrics and Gynecology Hospital after informed consent were recruited as IVF group for this study from Jan 2016 to Dec 2016. A total of 8838 spontaneous pregnant women who received NIPT were recruited as control group. Retrospective analysis was performed to identify the difference in the using of NIPT between IVF pregnant women and spontaneous pregnant women. Result：The age of IVF pregnant women is 34.74±3.59 years at gestational 15.68±2.31 weeks when received NIPT,with singleton pregnancy 350 cases and twin pregnancy 152 cases. The age of control group pregnant women is 32.68±4.06 years at gestational 16.93±2.89 weeks when received NIPT,with singleton pregnancy 8660 cases and twin pregnancy 178 cases. 1 case（1.99‰）of IVF pregnant women was screened out chromosome 18 trisome via NIPT and confirmed by prenatal diagnosis. 61 case（6.90 ‰）of spontaneous pregnant women was screened out chromosome 13,18 and 21 trisome via NIPT,51 cases confirmed by prenatal diagnosis,and 10 cases were false positive. Conclusion：NIPT is a effective methods in the prenatal screening in IVF pregnancy. age,gestational week and the number of embryo should be considered when interpret the result of NIPT of IVF pregnant women.