2 654例无创产前基因检测结果分析

Analysis of 2 654 cases of non invasive prenatal genetic test results

目的探讨无创产前基因检测在胎儿染色体非整倍体疾病诊断中的临床应用价值。方法选择在该院行胎儿染色体非整倍体无创基因检测的单胎孕妇2 654例,对孕妇外周血中游离DNA进行高通量测序,对检测结果高风险者进行羊膜腔穿刺及胎儿染色体核型分析,对检测结果阴性者进行电话随访。结果 2 654例孕妇无创基因检测结果高风险29例,包括21-三体14例,18-三体6例,47,XXY 5例,45,XO 2例,常染色体异常1例,母体染色体异常1例。对29例高风险孕妇行羊膜腔穿刺羊水细胞染色体核型分析,结果显示21-三体11例,18-三体5例,性染色体异常4例。结论无创产前基因检测在诊断胎儿染色体非整倍体异常有较高的特异性和准确性,有较高的临床应用价值,但存在一定的假阳性,应掌握指征。

Objective To explore the clinical value of noninvasive prenatal genetic testing in diagnosis of fetal chromosomal non‐integral disease .Methods A total of 2 654 pregnant women receiving fetal chromosomal aneuploidy noninvasive prenatal genetic testing in the hospital were selected ,high‐throughput sequencing of free DNA in peripheral blood of pregnant women was conduc‐ted ,amniocentesis and fetal karyotyping were carried out among the high risk pregnant women ,the negative pregnant women were followed up by telephone .Results Among 2 654 pregnant women ,29 high risk pregnant women were found by noninvasive prenatal genetic testing ,including 14 cases with trisomy 21 ,6 cases with trisomy 18 ,5 cases with 47 ,XXY ,2 cases with 45 ,XO ,1 cases with abnormal chromosome ,1 cases with maternal chromosome abnormalities .29 cases of high‐risk pregnant women with amniotic fluid cell chromosome karyotype analysis ,the results show that 11 cases with trisomy 21 ,5 cases with trisomy 18 ,4 cases with sex chro‐mosome abnormalities .Conclusion Noninvasive prenatal genetic testing in the diagnosis of fetal chromosomal abnormalities has a high specificity and accuracy ,there is a high clinical value ,but there are some false positive ,should grasp the indications .