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OA
Application of Chromosome Karyotype Analysis Combined with CNV-seq Detection in Prenatal Diagnosis of Fetuses with NT Thickening
目的 探讨染色体核型分析联合拷贝数变异测序(CNV-seq)在颈项透明层(NT)增厚胎儿中的有效性和临床价值.方法 回顾性分析 2019 年 3 月-2024 年 11 月在我院产前诊断中心就诊的孕早期胎儿NT≥2.5 mm的单胎妊娠孕妇,采集胎儿绒毛或羊水样本,均行染色体核型分析及CNV-seq检测.根据产前诊断指征分为单纯NT增厚组(128 例)和非单纯NT增厚组(81 例),根据NT厚度分为 3 组,分别是 2.5 mm≤NT＜3.5 mm组(132 例)、3.5 mm≤NT＜4.5 mm组(58 例)和NT≥4.5 mm组(19 例),分析各组核型分析和CNV-seq检测结果.结果 209 例胎儿NT增厚的孕妇样本中,检出染色体核型异常 25 例(11.96%),其中数目异常 20 例,包括 21-三体 14 例、18-三体 3 例、性染色体异常 3 例,结构异常 5 例;CNV-seq检出致病性变异 33 例,其中数目异常 20 例,与染色体核型检出结果一致;其他致病性变异 13 例,包括染色体大片段重复缺失 5 例和微缺失微重复综合征 8 例.不同NT值三组间异常检出率比较,差异有统计学意义(P＜0.05),两种检测技术异常检出率均随着NT厚度增加呈而上升;非单纯NT增厚组异常检出率高于单纯NT增厚组常检出率,差异有统计学意义(P＜0.05).结论 染色体核型分析联合CNV-seq检测在NT增厚胎儿产前诊断中可有效提高染色体异常检出率,减少染色体结果异常及染色体微缺失微重复的漏诊.
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.
吴汉锋;李炎炎;甘桂春;邓小彬;李腾
贵港市妇幼保健院遗传实验室,广西 贵港 537100贵港市妇幼保健院遗传实验室,广西 贵港 537100贵港市妇幼保健院遗传实验室,广西 贵港 537100贵港市妇幼保健院遗传实验室,广西 贵港 537100贵港市妇幼保健院遗传实验室,广西 贵港 537100
医药卫生
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
Chromosome karyotype analysisCopy number variationNuchal translucency thickeningPrenatal diagnosisMicrodeletion and microduplication
《医学信息》 2026 (7)
10-14,5
广西贵港市自筹经费科技计划项目(编号:贵科攻2300044)
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