染色体微阵列分析及全外显子测序在胎儿遗传学诊断中的应用

CMA and WES technique in fetal ultrasound abnormalities application value analysis

目的探讨染色体微阵列分析技术(CMA)及外显子组测序技术(WES)在胎儿遗传学诊断中的应用价值。方法回顾性分析本院2018~2022年共1318例胎儿羊水的CMA检测结果及2020~2022年共103例超声异常但CMA结果正常的胎儿WES检测结果,从多角度分析不同临床指征下CMA及WES阳性诊断率的差异。结果1318例胎儿羊水病例中,CMA检出率(14.8%)高于核型分析检出率(9.2%),差异有统计学意义(P<0.01);103例超声提示胎儿结构异常但CMA检测结果正常的胎儿样本加行WES检测,阳性率为21.4%.结论与传统核型分析相比,CMA检测提高了染色体异常的检出率;对超声提示结构异常的胎儿在常规核型和CMA检测结果为阴性时,WES可作为提高检出率的一种有效方法。

Objective To investigate the value and feasibility of Chromosomal Microarray Analysis(CMA)and Whole Exome Sequencing(WES)in the diagnosis of prenatal ultrasound abnormalities.Methods CMA test results of 1318 fetal amniotic fluid from 2018 to 2022,WES test results of 103 cases and 103 fetuses with abnormal ultrasound results from 2020 to 2022,and the correlation between clinical indication and CMA and WES positive diagnosis from multiple perspectives.Results A total of 195 pathogenic variants were detected in 1318 CMA cases,accounting for 14.80%;6.04%compared with karyotype analysis(8.76%),the positive rate of CMA diagnosis increased;WES test was applied to 103 fetal samples with fetal structural abnormalities but normal CMA test results,and 22 positive cases were detected,with a positive rate of 21.4%.Conclusion Compared with conventional karyotyping,CMA can further improve the detection rate of chromosomal abnormalities in the conventional karyotyping and CMA test.