中国妇幼健康研究2026，Vol.37Issue(9)：53-59,7.DOI:10.3969/j.issn.1673-5293.2026.09.008
无创产前检测筛查胎儿性染色体变异的价值
The value of noninvasive prenatal testing in screening for fetal sex chromosome variation
摘要
Abstract
Objective To explore the clinical screening efficacy and application value of noninvasive prenatal testing(NIPT)for fetal sex chromosome variations.Methods A retrospective analysis was conducted on the NIPT results of 38 034 singleton pregnancies at the prenatal diagnosis center of the first people's hospital of Chenzhou from January 2021 to December 2024.For those with positive fetal sex chromosome variations indicated by NIPT,peripheral blood karyotype analysis,amniotic fluid karyotype analysis,and copy number variation sequencing(CNV-seq)were performed for verification.The positive rate of screening in each group was compared using χ2 test,and independent influencing factors of fetal sex chromosome aneuploidy abnormalities(SCAs)were analyzed using multivariate Logistic regression.Results 154 cases of chromosomal aneuploidy(SCAs)were detected by NIPT,with a detection rate of 0.41％.Compared with the<35 years old group,the detection rate of fetal SCAs in the≥35 years old group was higher,and the difference was statistically significant(χ2=12.86,P<0.05);after adjusting for confounding factors,being≥35 years old for the pregnant woman was an independent risk factor for fetal SCAs(OR=1.77,95％CI:1.30-2.41,P<0.05);the overall positive predictive value(PPV)of NIPT for SCAs was 50.00％,and the PPV of the four types of SCAs karyotypes was as follows:47,XXY(83.33％),47,XXX(66.67％),47,XYY(55.56％),45,X(33.33％).Among the 59 cases with confirmed chromosomal variations(including 2 cases inconsistent with the NIPT indication),the induction rate was 52.54％(31/59),and all 55 NIPT false positive cases delivered full-term babies.No abnormalities were found in the newborn follow-up.Conclusion NIPT has reliable clinical application value for screening fetal SCAs.Combined with amniotic fluid karyotype and CNV-seq,it can clearly diagnose chromosomal variations,providing a basis for clinical genetic counseling and pregnancy management.关键词
无创产前检测/胎儿/性染色体非整倍体/核型分析/拷贝数变异测序/妊娠结局Key words
noninvasive prenatal testing/fetus/sex chromosome aneuploidy/karyotype analysis/copy number variations sequencing/pregnancy outcome分类
医药卫生引用本文复制引用
侯帅,刘学晴,李彩云,阳敏,刘颖慧,张昊晴..无创产前检测筛查胎儿性染色体变异的价值[J].中国妇幼健康研究,2026,37(9):53-59,7.基金项目
郴州市技术研发中心(202029) （202029）
