新筛查模式下高龄孕妇产前诊断指针的再评价  

Re-evaluation of indications for prenatal diagnosis of advanced pregnant women under the new screening regime

作　　者：杨云帆[1] 王彦林[1] 高佳琪[2] 吴怡[1] 孙金琳 赵欣荣[1] 杲丽[1] Yang Yunfan;Wang Yanlin;Gao Jiaqi;Wu Yi;Sun Jinlin;Zhao Xinrong;Gao Li(Center for Prenatal Diagnosis,International Peace Maternity and Child Health Care Hospital,School of Medicine,Shanghai Jiaotong University,Shanghai 200030,China;Department of Reproductive Genetics,International Peace Maternity and Child Health Care Hospital,School of Medicine,Shanghai Jiaotong University,Shanghai 200030,China)

机构地区：[1]上海交通大学医学院附属国际和平妇幼保健院产前诊断中心,200030 [2]上海交通大学医学院附属国际和平妇幼保健院生殖遗传科,200030

出　　处：《中华医学遗传学杂志》2020年第10期1057-1060,共4页Chinese Journal of Medical Genetics

基　　金：上海市科委科研计划(18140902501)。

摘　　要：目的探讨无创产前检测(non-invasive prenatal testing,NIPT)对于胎儿颈后透明层(nuchal translucency,NT)筛查为阴性的高龄孕妇的筛查价值。方法回顾9371例早孕期NT筛查为阴性的单胎妊娠高龄孕妇的记录,其中有8627例选择进行NIPT筛查,分析其指征和检查结果,并同高龄合并其他高风险因素以及低龄组进行比较。结果高龄合并超声软指标异常者胎儿非整倍体发生率升高,37岁以上NT筛查阴性的单纯高龄孕妇更为显著。在单纯因高龄而直接接受介入性产前诊断的孕妇中,可能致病及致病性胎儿染色体拷贝数变异的检出率为1.88%,但与年龄无关。NT筛查阴性、NIPT提示低风险的高龄孕妇仍有0.68%需要再进行介入性产前诊断。结论单纯因高龄接受产前诊断的孕妇,经过早孕期NT筛查,在37岁之前可用NIPT替代介入性产前诊断,但有漏检致病性染色体拷贝数变异的可能性,后期需加强超声监测。Objective To assess the value of non-invasive prenatal testing(NIPT)for women with advanced gestational age but normal measurement for nuchal translucency(NT).Methods A total of 9371 singleton pregnancies with negative NT screening at early pregnancy were reviewed.Among these,8627 cases were selected to be screened again by NIPT,and their indications and results were analyzed.The results were compared with those of with other high risk factors and young gestational age.Results The incidence of fetal aneuploidies increased in women with advanced gestational age and ultrasound soft markers,in particular among those who were negative for NT screening but over the age of 37.The detection rate of pathological or likely pathological copy number variations was 1.88%among women who directly underwent invasive prenatal diagnosis because of the advanced age,but there was no correlation with the increase of age.0.68%of the women where with negative NT screening and NIPT still need to undergo invasive prenatal diagnosis.Conclusion After NT screening in early pregnancy,NIPT can replace invasive prenatal diagnosis for those below the age of 37,though there is still a possibility of missed detection of pathogenic copy number variation.It is necessary to strengthen ultrasonic monitoring in later period.

关 键 词：无创产前检测 产前筛查 产前诊断 拷贝数变异 高龄妊娠 

分 类 号：R714.5[医药卫生—妇产科学]