医学信息2026，Vol.39Issue(7)：10-14,5.DOI:10.3969/j.issn.1006-1959.2026.07.003
染色体核型分析联合CNV-seq检测在NT增厚胎儿产前诊断中的应用
Application of Chromosome Karyotype Analysis Combined with CNV-seq Detection in Prenatal Diagnosis of Fetuses with NT Thickening
摘要
Abstract
Objective To explore the effectiveness and clinical value of chromosome karyotype analysis combined with copy number variation sequencing(CNV-seq)in fetuses with nuchal translucency(NT)thickening.Methods A retrospective analysis was conducted on pregnant women with singleton pregnancies who visited our prenatal diagnosis center from March 2019 to November 2024 and had an early pregnancy fetal NT≥2.5 mm.Amniotic fluid or chorionic villus samples were collected for both chromosome karyotype analysis and CNV-seq testing.According to the indications of prenatal diagnosis,they were divided into simple NT thickening group(128 cases)and non-simple NT thickening group(81 cases).According to the thickness of NT,they were divided into three groups:2.5 mm≤NT<3.5 mm group(132 cases),3.5 mm≤NT<4.5 mm group(58 cases)and NT≥4.5 mm group(19 cases).The results of karyotype analysis and CNV-seq in each group were analyzed.Results Among 209 pregnant women with fetal NT thickening,25 cases(11.96%)were detected with abnormal karyotype.Among them,there were 20 cases of numerical abnormality(14 cases of 21-trisomy,3 cases of 18-trisomy,3 cases of sex chromosome abnormality)and 5 cases of structural abnormality.CNV-seq detected 33 cases of pathogenic variation,including 20 cases of numerical abnormality,which was consistent with the results of chromosome karyotype detection.There were 13 cases of other pathogenic variations,including 5 cases of chromosome large fragment duplication and 8 cases of microdeletion microduplication syndrome.There was significant difference in the abnormal detection rate among the three groups with different NT values(P<0.05).The abnormal detection rate of the two detection techniques increased with the increase of NT thickness.The abnormal detection rate of non-simple NT thickening group was higher than that of simple NT thickening group,and the difference was statistically significant(P<0.05).Conclusion Chromosomal karyotype analysis combined with CNV-seq detection can effectively improve the detection rate of chromosomal abnormalities and reduce the missed diagnosis of chromosomal abnormalities and microdeletions in prenatal diagnosis of fetuses with NT thickening.关键词
染色体核型分析/拷贝数变异/颈项透明层增厚/产前诊断/微缺失微重复Key words
Chromosome karyotype analysis/Copy number variation/Nuchal translucency thickening/Prenatal diagnosis/Microdeletion and microduplication分类
医药卫生引用本文复制引用
吴汉锋,李炎炎,甘桂春,邓小彬,李腾..染色体核型分析联合CNV-seq检测在NT增厚胎儿产前诊断中的应用[J].医学信息,2026,39(7):10-14,5.基金项目
广西贵港市自筹经费科技计划项目(编号:贵科攻2300044) （编号:贵科攻2300044）
