无创产前基因检测对胎儿性染色体非整倍体筛查的临床实践  

Clinical practice of non-invasive prenatal testing for sex chromosome aneuploidy

作　　者：何凌 简文倩 王朝红[1] 韦庆芳[1] 卢庆[1] HE Ling;JIAN Wenqian;WANG Zhaohong;WEI Qingfang;LU Qing(Department of Obstetrics,Nanning Second People's Hospital,Nanning,Guangxi,530021,China)

机构地区：[1]南宁市第二人民医院产科,广西南宁530021

出　　处：《当代医学》2022年第32期89-92,共4页Contemporary Medicine

摘　　要：目的探讨无创产前基因检测(NIPT)在胎儿性染色体非整倍体(SCA)产前筛查的临床实践价值。方法回顾性分析2019年1月至2020年8月于本院产科门诊及南宁市其他医院自愿参与NIPT检测的18562名孕妇的临床资料,检测结果提示胎儿SCA阳性者,于孕17~24周抽取羊水进行介入性产前诊断,计算SCA的筛查阳性率和阳性预测值,并分析妊娠选择情况。结果18562名NIPT共检测到SCA高危78名,筛查阳性率为0.42%。经遗传咨询,有66例孕妇接受介入性产前诊断,确诊SCA 35例,总阳性预测值为53.03%。35名确诊的SCA包括7例(45,X)、2例(47,XXX)、17例(47,XXY)、3例(47,XYY)、5例嵌合体和1例X染色体部分缺失。有65.71%的孕妇家庭选择终止妊娠,胎儿核型为Turner综合征的有91.67%选择终止妊娠、核型为Klinefelter’s综合征的有66.67%选择终止妊娠。确诊为胎儿性染色体异常的终止妊娠率为65.71%。结论NIPT是一种检测性染色体非整倍体的有效方法,但存在一定假阳性率,检测前应充分告知孕妇NIPT检测的意义及局限性。Objective To investigate the clinical value of noninvasive prenatal testing(NIPT)in prenatal screening of fetal sex chromosome aneuploidy(SCA).Methods The clinical data of 18562 pregnant women who voluntarily participated in NIPT testing in the obstetric outpatient clinic of our hospital and other hospitals in Nanning from January 2019 to August 2020 were retrospectively analyzed,and the test results showed that the fetal SCA were positive,and amniotic fluid was drawn from 17-24 weeks of pregnancy for interventional prenatal diagnosis,the positive screening rate and positive predictive value of SCA were calculated,and the pregnancy selection was analyzed.Results A total of 78 high-risk cases of SCA were detected in 18562 NIPT pregnant,and the screening positive rate was 0.42%.After genetic counseling,66 pregnant women received interventional prenatal diagnosis,and 35 cases of SCA were confirmed,with total positive predictive value of 53.03%.The 35 confirmed SCA included 7 cases(45,X),2 cases(47,XXX),17 cases(47,XXY),3 cases(47,XYY),5 cases chimeras,and 1 cases partial deletion of the X chromosome.65.71%of pregnant families chose to terminate pregnancy,91.67%chose to terminate pregnancy with karyotype Turner syndrome,and 66.67%chose to terminate pregnancy with karyotype Klinefelter's syndrome,respectively.The pregnancy termination rate diagnosed with fetal sex chromosome abnormalities was 65.71%.Conclusion NIPT is an effective method for detecting sex chromosome aneuploidy,but there is certain false positive rate,and pregnant women should be fully informed of the significance and limitations of NIPT detection before testing.

关 键 词：无创产前基因检测 性染色体非整倍体 产前筛查 

分 类 号：R714.5[医药卫生—妇产科学]