无创产前检测在双胎消失孕妇中的应用价值  

Clinical value of noninvasive prenatal testing in vanishing twin pregnancies

作　　者：刘艳慧 魏瑗[1] 李佳欣 原鹏波[1] 尤小燕 王红彬 赵扬玉[1] Liu Yanhui;Wei Yuan;Li Jiaxin;Yuan Pengbo;You Xiaoyan;Wang Hongbin;Zhao Yangyu(Department of Obstetrics and Gynecology,Peking University Third Hospital,Beijing 100191,China;Department of Obstetrics,Shijiazhuang People's Hospital,Shijiazhuang 050000,China;Department of Obstetrics,Zhengzhou Central Hospital Affiliated to Zhengzhou University,Zhengzhou 450000,China;Department of Obstetrics,the Fourth Hospital of Shijiazhuang,Shijiazhuang 050011,China)

机构地区：[1]北京大学第三医院妇产科,北京100191 [2]石家庄市人民医院产科,石家庄050000 [3]郑州大学附属郑州中心医院产科,郑州450000 [4]石家庄市第四医院产科,石家庄050011

出　　处：《中华围产医学杂志》2022年第2期99-103,共5页Chinese Journal of Perinatal Medicine

摘　　要：目的分析无创产前检测(noninvasive prenatal testing,NIPT)在双胎消失(vanishing twin,VT)孕妇中的应用价值。方法回顾性分析2017年1月至2020年12月在北京大学第三医院进行NIPT的VT孕妇164例,收集所有孕妇VT发生孕周、NIPT结果及采血时间、产前诊断结果以及妊娠结局等资料,采用两独立样本t检验和χ^(2)检验进行统计学分析。结果(1)164例中,6例NIPT阳性,而核型分析及单核苷酸多态性芯片检测均未见异常,NIPT假阳性率为3.7%(6/164),均足月分娩;4例孕中期引产,包括2例胎儿畸形和1例不明原因胎儿宫内死亡病例的核型及单核苷酸多态性芯片均无异常,1例因胎膜早破发生难免流产,但拒绝行羊膜腔穿刺;余154例分娩(包括12例早产)均未发现异常表型。(2)VT发生孕周≤8周的NIPT假阳性率低于>8周[1.5%(2/134)与13.3%(4/30),χ^(2)=6.68,P=0.010]。发生VT孕周与NIPT采血孕周的间隔时间≤8周组的假阳性率为6.9%(4/58),间隔时间>8周组的假阳性率为1.9%(2/106),两者比较差异无统计学意义(χ^(2)=1.44,P=0.231)。结论尽管VT孕妇中存在NIPT假阳性,但仍可以在充分知情同意的基础上进行NIPT筛查,减少不必要的介入性产前诊断。VT发生的孕周越早,其NIPT假阳性率有下降趋势,但延长采样间隔时间是否降低假阳性风险有待进一步研究。Objective To analyze the clinical value of noninvasive prenatal testing(NIPT)in vanishing twin(VT)pregnancies.Methods A total of 164 VT pregnancies that underwent NIPT in Peking University Third Hospital from January 2017 to December 2020 were enrolled.Gestational age at onset of vanishing,results of NIPT and invasive prenatal diagnosis,blood sampling time points,and pregnancy outcomes were retrospectively analyzed using two independent samples t test and Chi-square test.Results(1)Of the 164 cases,six had positive results for NIPT,but negative results for karyotype analysis or single nucleotide polymorphism genotyping,with a false positive rate of 3.7%(6/164)for NIPT and all of them were delivered at term.Four pregnancies terminated in the second trimester,including two fetal malformation cases and one unexplained intrauterine death whose single nucleotide polymorphisms results are all normal and one inevitable abortion case due to premature rupture of membrane who refused amniocentesis.The other 154 women all gave birth to normal phenotype babies including 12 preterm ones.(2)The false-positive rate of NIPT was lower in VT pregnancies diagnosed at less than eight gestational weeks than those diagnosed after[1.5%(2/134)vs 13.3%(4/30),χ^(2)=6.68,P=0.010].The false-positive rate was 6.9%(4/58)in women diagnosed at or below eight weeks between the occurrence of VT and blood sampling and was 1.9%(2/106)in those with interval more than eight weeks,but without significant difference(χ^(2)=1.44,P=0.231).Conclusions Although VT pregnancies exist false-positive results in NIPT,screening is still recommended based on fully informed consent to reduce unnecessary invasive prenatal diagnosis.The earlier the onset of VT,the lower the NIPT false positive rate,but whether extending the sampling interval would reduce the risk of false-positive needs further study.

关 键 词：非侵入性产前检测 妊娠 双胎 游离核酸 假阳性反应 

分 类 号：R714.2[医药卫生—妇产科学]