低深度全基因组测序技术联合细胞学检测在高龄产妇产前诊断中的应用

Application of low-depth whole genome sequencing combined with cytological detection in prenatal diagnosis of elderly parturient women

目的 探讨低深度全基因组测序技术(CNV-seq)联合细胞学检测在高龄产妇产前诊断中的应用。方法 选取2020年1月至2021年12月濮阳妇幼保健院进行产前检查且经重复无创筛查无效的196例的高龄产妇作为研究对象,所有产妇先行羊膜腔穿刺术,对胎儿羊水样本进行细胞学检测及CNV-seq检测,分析比较两种技术检出胎儿染色体异常结果,并随访其妊娠结局。结果 细胞学检测检出异常40例,异常率20.40%;CNV-seq技术检出异常52例,异常率26.53%;两者单独检出异常率比较,差异无统计学意义(χ^(2)=2.045,P>0.05);细胞学检测+CNV-seq检测检出异常65例,异常率33.16%,细胞学检测、CNV-seq检测与细胞学检测+CNV-seq检测比较,差异有统计学意义(χ^(2)=8.151,P<0.05)。结论 低深度全基因组测序技术联合细胞学检测在高龄产妇产前诊断中有良好的应用价值,且具有较高的检出率。

Objective To explore the application of low-depth whole genome sequencing(CNV-seq)combined with cytological detection in prenatal diagnosis of elderly parturient women.Methods A total of 196 elderly parturients who underwent antenatal care in Puyang Maternal and Child Health Hospital from January 2020 to December 2021 were retrospectively repeated non-invasive screening were selected as the study subjects.All pregnant women underwent amniocentesis first,and fetal amniotic fluid samples were subjected to cytological detection and CNV-seq detection.The results of fetal chromosomal abnormalities detected by the two techniques were analyzed and compared,and the pregnancy outcomes were followed up.Results 40 cases of abnormalities were detected by cytological detection,and the abnormal rate was 20.40%.CNV-seq technology detected 52 cases of abnormalities,with an abnormal rate of 26.53%.There was no significant difference in the abnormal rate between the two methods(χ^(2)=2.045,P>0.05).Cytological detection+CNV-seq detection detected abnormalities in 65 cases,with an abnormal rate of 33.16%.There was a statistically significant difference between cytological testing,CNV-seq testing and cytological testing+CNV-seq testing(χ^(2)=8.151,P<0.05).Conclusion Low-depth whole-genome sequencing combined with cytological detection has good application value in prenatal diagnosis of elderly parturient women,and has a high detection rate.