检验医学与临床2024，Vol.21Issue(8)：1087-1091,5.DOI:10.3969/j.issn.1672-9455.2024.08.013
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
摘要
Abstract
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 sub-jects,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 abnor-malities were collected,including 515 cases of common chromosomal aneuploidies,244 cases of sex chromo-some aneuploideis,and 193 cases of other chromosomal abnormalities.Among 515 cases of common chromo-somal aneuploidies,397 cases were true trisomy,and the PPV was 77.09%.Among 244 cases of SCA,119 ca-ses 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 sponta-neous delivery,140 cases of cesarean section,378 cases of term delivery,23 cases of premature delivery,363 ca-ses 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 ane-uploidies.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Key words
non-invasive prenatal genetic testing/karyotype analysis/chromosomal microarray analy-sis/positive predictive value/pregnancy outcome分类
医药卫生引用本文复制引用
李华锋,徐从红,冯桐,邱吉刚,李永丽..无创产前基因检测筛查胎儿染色体异常的临床应用价值[J].检验医学与临床,2024,21(8):1087-1091,5.基金项目
临沂市重点研发计划(2022YX0016) （2022YX0016）
临沂市妇幼保健院科研基金项目(Y202203). （Y202203）
