223例颈项透明层增厚胎儿的染色体核型及aCGH结果分析

Chromosomal karyotype analysis and array-based comparative genomic hybridization in 223 cases with increased nuchal translucency

目的评估胎儿NT增厚的染色体异常风险,为临床咨询提供参考依据。方法回顾性分析223例于广东省妇幼保健院诊断NT增厚或临界增厚胎儿的染色体核型分析及aCGH结果。结果 1例绒毛染色体细胞培养失败。G显带结果发现染色体异常胎儿47例(21.2%),其中致病性异常35例(15.8%);aCGH检出37例(16.6%)异常,其中致病性异常35例(15.7%)。按照NT值分组,2.5mm≤NT<3.0mm者共67例,G显带分析及aCGH共检出致病染色体异常5例(7.5%);3.0mm≤NT<3.5mm者共62例,共检出致病染色体异常6例(9.7%);3.5mm≤NT<4.0mm者共36例,共检出致病染色体异常6例(16.7%);4.0mm≤NT<5.0mm者共29例,共检出致病染色体异常9例(31.0%);NT≥5mm者共29例,共检出致病染色体异常11例(37.9%)。NT增厚合并其他超声异常者共29例,G显带核型及aCGH分析发现有8例(27.6%)存在致病性染色体异常。结论胎儿NT增厚与染色体异常关系密切,且染色体异常风险随NT值增高而增高,aCGH技术能提高致病性CNVs的检出率,建议NT增厚胎儿应同时行传统染色体核型和aCGH分析。

Objective To assess the risk of chromosome abnormality in fetuses with increased nuchaI translucency. Method We retrospectively analysed the outcomes of chromosome karyotype and aCGH in 223 fetues with increased nuchal translucency by invasive prenatal diagnosis. Results One case with chorionic villus cultured failure. Among the 222 fetal karyotypes results, the proportion of pathogenic chromosome abnormality was 15.8%. There 67 fetuses with 2.5mm≤NT〈3.0ram and the proportion of pathogenic chromosome abnormality was 7.5 %. For the fetuses with 3.0mm≤NT〈3.5mm, 3.5mm≤NT〈4.0mm, 4. 0mm≤NT〈5. 0mm, NT≥5mm, the pathogenic chromosome abnormality respectively were 9.7 %, 16.7 %, 31.0 %, 37.9 %. Conclusions Increased nuchal translucency is significantly correlated with chromosome abnormality and aCGH has many remarkable advantages in detecting pathogenic CNVs. Tra ditional chromosome karyotype analysis and aCGH should be together applied to fetuses with increased nuchal translucency.