无创产前基因检测筛查胎儿染色体异常的临床应用价值  

Clinical application value of non-invasive prenatal genetic testing in screening fetal chromosomal abnormalities

作　　者：李华锋 徐从红 冯桐 邱吉刚 李永丽 LI Huafeng;XU Conghong;FENG Tong;QIU Jigang;LI Yongli(Department of Medical Genetics,Linyi Maternal and Child Health Hospital,Linyi,Shandong 276000,China)

机构地区：[1]山东省临沂市妇幼保健院医学遗传科,山东临沂276000

出　　处：《检验医学与临床》2024年第8期1087-1091,共5页Laboratory Medicine and Clinic

基　　金：临沂市重点研发计划(2022YX0016);临沂市妇幼保健院科研基金项目(Y202203)。

摘　　要：目的探讨无创产前基因检测(NIPT)筛查胎儿染色体异常的临床应用价值。方法回顾性选取2017年1月至2022年6月在该院医学遗传科因NIPT提示胎儿染色体异常的952例单胎孕妇的临床资料作为研究对象。按照年龄将所有研究对象分为低年龄组(<35岁,467例)与高年龄组(≥35岁,485例)。对所有研究对象进行核型分析和染色体微阵列分析(CMA),计算阳性预测值(PPV)。随访所有孕妇,随访时间为分娩后3~12个月。结果收集的952例NIPT胎儿染色体异常的孕妇中,515例为常见染色体非整倍体,244例为性染色体非整倍体(SCA),193例为其他染色体异常。515例常见染色体非整倍体中真性常见染色体三体胎儿397例,PPV为77.09%;244例SCA中真性SCA 119例,PPV为48.77%;193例其他染色体异常中真性染色体异常61例。所有孕妇均在预产期3~12个月内进行妊娠结局电话随访。952例孕妇失访112例,随访成功率为88.24%。随访成功401例已出生胎儿,其中自然分娩261例,剖宫产140例;足月生产378例,早产儿23例;体质量正常儿363例,低体质量儿17例,巨大儿21例;出生健康胎儿396例,出生缺陷胎儿5例。结论NIPT筛查胎儿常见染色体非整倍体准确性高,可筛查SCA,但不推荐筛查罕见染色体非整倍体。Objective To investigate the clinical application value of non-invasive prenatal genetic testing(NIPT)in screening fetal chromosomal abnormalities.Methods The clinical data of 952 singleton pregnant women with fetal chromosomal abnormalities indicated by NIPT in the Department of Medical Genetics of the hospital from January 2017 to June 2022 were selected retrospectively as the research objects.According to age,all subjects were divided into low age group(<35 years old,467 cases)and high age group(≥35 years old,485 cases).Karyotype analysis and chromosomal microarray analysis(CMA)were performed on all subjects,and positive predictive value(PPV)was calculated.All pregnant women were followed up for 3 to 12 months after delivery.Results A total of 952 cases of NIPT pregnant women with fetal chromosomal abnormalities were collected,including 515 cases of common chromosomal aneuploidies,244 cases of sex chromosome aneuploideis,and 193 cases of other chromosomal abnormalities.Among 515 cases of common chromosomal aneuploidies,397 cases were true trisomy,and the PPV was 77.09%.Among 244 cases of SCA,119 cases were true SCA,and the PPV was 48.77%.There were 193 cases of other chromosomal abnormalities,and 61 cases of true chromosomal abnormalities.All pregnant women were followed up by telephone within 3 to 12 months of the expected date of delivery.Among 952 pregnant women,112 cases were lost to follow-up,and the follow-up success rate was 88.24%.A total of 401 fetuses were followed up,including 261 cases of spontaneous delivery,140 cases of cesarean section,378 cases of term delivery,23 cases of premature delivery,363 cases of normal birth weight,17 cases of low birth weight infants,21 cases of macrosomia,396 cases of healthy birth infants,and 5 cases of birth defects.Conclusion NIPT has high accuracy in screening common fetal chromosomal aneuploidies and can screen for SCA,but it is not recommended to screen rare chromosomal aneuploidies.

关 键 词：无创产前基因检测 核型分析 染色体微阵列分析 阳性预测值 妊娠结局 

分 类 号：R596.2[医药卫生—内科学]