孕妇外周血胎儿游离DNA在产前筛查胎儿染色体非整倍体疾病中的价值

Value of cell free fetal DNA in maternal plasma to fetal aneuploidy screening

目的探讨孕妇外周血胎儿游离DNA在产前筛查胎儿染色体非整倍体疾病中的临床应用价值。方法接受产前诊断孕12~26周孕妇4 300例,采集外周血提取胎儿游离DNA,应用高通量测序技术检测风险值,对检测结果提示高风险者进一步行羊水穿刺胎儿染色体核型分析及基因芯片检测,对检测结果提示低风险者电话随访至分娩。结果胎儿游离DNA高通量测序检测提示高风险者45例,其中21-三体综合征29例,18-三体综合征11例,13-三体综合征5例;1例13-三体综合征羊水穿刺胎儿染色体核型分析未见异常,基因芯片检测发现孕妇13号染色体存在微重复,余44例高风险妊娠均经羊水穿刺胎儿染色体核型分析证实;胎儿游离DNA高通量测序提示低风险4 255例,其中3 008例完成随访,新生儿未见明显异常。结论孕妇外周血胎儿游离DNA产前筛查可高效、准确筛查胎儿染色体非整倍体疾病,且较介入性产前诊断易接受,具有较好的临床应用价值。

Objective To explore the clinical value of cell free fetal DNA in maternal plasma to fetal aneuploidy screening.Methods A total of 4 300 pregnant women undergoing cell free fetal DNA detection in maternal plasma from gestation week of 12 to 26 were extracted cell free DNA from peripheral blood.High-throughput sequencing was performed to calculate the risk value.Fetal karyotyping and array-CGH were done in the high-risk pregnant women.The low-risk pregnant women were followed up via telephone until delivery.Results High-throughout sequencing found 45 cases of common trisomies including 29 of trisomy 21,11 of trisomy 18 and 5 of trisomy 13.Only one case of trisomy 13 showed negative in amniocentesis analysis and showed micro-duplication on chromosome 13 by array-CGH assay.And the other 44 cases were confirmed by amniocentesis analysis.Among 4 255 low-risk pregnant women,3 008 completed follow-up survey,with no obvious abnormal in neonates.Conclusion Cell free fetal DNA detection in maternal plasma is an effective and reliable tool in screening fetal chromosome aneuploidies.It is much more acceptable by pregnant women than invasive prenatal testing.