无创产前基因筛查在单双胎中的应用研究  

The study of noninvasive prenatal screening in singleton and twin pregnancies

作　　者：彭海山[1] 黄华洁 杨洁霞[1] 侯亚萍[1] 郭芳芳[1] 齐一鸣[1] 罗晓辉 王东梅[1] 王奕霞[1] 尹爱华[1] PENG Hai-shan;HUANG Hua-jie;YANG Jie-xia

机构地区：[1]广东省妇幼保健院医学遗传中心,广东广州511442

出　　处：《中国产前诊断杂志（电子版）》2018年第3期14-17,共4页Chinese Journal of Prenatal Diagnosis(Electronic Version)

摘　　要：目的通过对广东地区双胎和单胎应用NIPT进行染色体非整倍体的研究对比,为双胎应用NIPT进行筛查增加研究数据的支持。方法收集了2015年1月至2017年7月在广东省妇幼保健院自愿进行NIPT检测的单胎妊娠孕妇15 206例,双胎孕妇442例。分析入组孕妇的基本信息和结果。对高风险孕妇建议进一步行染色体核型分析进行确证,同时进行了NIPT与核型结果的分析,低风险孕妇均进行电话随访。结果单胎和双胎在年龄与孕周上无显著性差异,但在受孕方式上,双胎组以IVF试受分者占比较多。单胎中21、18、13-三体的灵敏度为100%,90%,100%,特异度为99.96%,99.98%,99.95%,阳性预测值分别为89.66%,75%,36.36%,双胎中21、18-三体的灵敏度均为100%,特异度为100%和99.77%,阳性预测值分别为100%和50%。结论 NIPT在单胎和双胎中的筛查效果相似,NIPT用于双胎妊娠的染色体非整倍体筛查有一定的应用价值,其对21-三体的筛查效率高于18-三体。Objective Comparing the performance of NIPT in singleton and twin pregnancies for screening aneuploidy in Guangdong area,aim at adding data for supporting to apply NIPT in twin pregnancies.Method Collecting15206maternal blood samples of singleton pregnancies and442samples from twin pregnancies who voluntarily accepted NIPT in Guangdong Province Women and Children hospital during January2015to July2017.Information and results of pregnancies were analyzed.Pregnancies with high risk results of NIPT received a suggestion for a confirmation by karyotype,with comparing the results of NIPT and karyotype.Pregnancies with low risk were followed up by telephone.Results There is no difference between singleton and twin pregnancies in age and gestational weeks.In method of conception,IVF is strikingly increasing in twin pregnancies.In singleton pregnancies,the sensitivity of trisomy21,18,13is100%,90%,100%respectively;specificity is99.96%,99.98%,99.95%;positive predictive value is89.66%,75%,36.36%.In twin pregnancies,for trisomy21and18,sensitivity of all is100%,specificity is100%and99.77%;positive predictive value is100%and50%.Conclusions There is no difference of NIPT performance between singleton and twin pregnancies.Noninvasive prenatal screening for chromo somal aneuploidy is valuable in twins.The screening performance of trisomy21is better than it of trisomy18.

关 键 词：无创产前筛查 单胎 双胎 筛查效果 

分 类 号：R714.55[医药卫生—妇产科学]