在胎儿染色体非整倍体的细胞游离DNA筛查之前的10-14w进行超声筛查的临床意义

Clinical significance of ultrasound screening 10-14 weeks prior to screening of fetal chromosome aneuploid cell-free DNA

目的探讨在胎儿染色体非整倍体的细胞游离DNA筛查之前的10-14w进行超声筛查的临床意义。方法选取2016年1月~2018年1月于我院进行产检的产妇进行了回顾性分析,所有产妇都进行了孕早期超声检查以确定超声检查改变基因检测策略的频率。从围产期数据库中收集了患者的年龄,产科超声,产前筛查和基因检测的信息。于妊娠早期发现了意外的超声波发现,作为产前筛查/测试策略改变的依据。结果有2337名妇女符合纳入标准,总共2462名胎儿。68名孕妇(2.9%)为胎儿异常。在这68名孕妇中,45名(66%)进行了诊断性检测。所有研究对象中共153例(6.5%)为无活力妊娠,32例(1.4%)为多胎妊娠。126(5.3%)进行妊娠管理修订。在选择非整倍体筛查的患者中(n=1806),68.5%的患者进行了游离DNA筛查,31.5%的患者进行了孕早期筛查。在那些有资格进行游离DNA筛查的人群中,16.1%(377/2337)[95%CI 0.15-0.18]在测试时有超声发现异常。结论大部分符合游离DNA筛查条件的高龄产妇建议进行超声检查结果可能改变基因检测策略。

Objective:To explore the clinical significance of ultrasound screening 10-14 weeks before cell-free DNA screening of fetal chromosome aneuploidy.Methods:A retrospective analysis was performed on maternal women who underwent a physical examination in our hospital from January 2016 to January 2018.All women underwent early pregnancy ultrasound to determine the frequency of ultrasound testing to change the genetic testing strategy.Information on patient age,obstetric ultrasound,prenatal screening,and genetic testing was collected from the perinatal database.Unexpected ultrasound findings were detected early in pregnancy as a basis for changes in prenatal screening/testing strategies.Results:2337 women met the inclusion criteria for a total of 2462 fetuses.68 pregnant women(2.9%)were abnormalities in the fetus.Of the 68 pregnant women,45(66%)underwent a diagnostic test.In all studies,153(6.5%)of the phalanx were inactive and 32(1.4%)were multiple pregnancies.126(5.3%)revised pregnancy management.In patients who underwent aneuploidy screening(n=1806),68.5%of patients underwent cell-free DNA screening and 31.5%underwent early pregnancy screening.Among those eligible for cell-free DNA screening,16.1%(377/2337)[95%CI 0.15-0.18]had ultrasound abnormalities during the test.Conclusion:Most older women who meet the criteria for cell-free DNA screening suggest that ultrasound examinations may alter genetic testing strategies.