934例孕妇无创DNA产前检测结果分析

Analysis of the results of 934 pregnant women by the non-invasive testing

目的通过对本院934例孕妇进行的胎儿无创DNA检测结果进行统计分析,评价新一代测序技术在产前诊断中的应用价值。方法按照年龄,血清学筛查,其他原因等因素对本院接受胎儿无创游离DNA检测的934例孕妇进行分组,高龄组384例,高危组329例,临界组153例,其他组68例,检测结果回报后阴性者彩超动态观察和出生后随访,阳性者进一步行有创产前诊断进行最终确诊。结果 1)无创DNA检测结果异常者共16例,其中21三体阳性10例,18三体阳性1例,性染色体异常4例,19号染色体异常1例。2)16例无创检测结果异常者进一步接受有创产前诊断的共15例,其中无创检测提示21三体阳性的10例孕妇,18三体阳性的1例孕妇,均通过羊水穿刺核型分析证实与无创检测结果一致。性染色体异常的4例孕妇进一步接受羊水穿刺的3例,核型分析后证实1例为嵌合体,1例正常,1例异常。19号染色体异常者行羊水核型分析后未见异常。结论胎儿无创DNA产前检测技术在染色体非整倍体的改变方面检出率较高,且具有较高的敏感性和特异性,与传统的有创产前诊断方法相比具有无创伤,用时短,出结果快等不可比拟的优点,但是对于其他染色体异常的检出尚有较大局限性和不足。

Objective：To explore the value of high-throughput genome sequencing in noninvasive prenatal diagnosis. Methods：934 pregnant women were tested for free fetal DNA in peripheral blood,and all of them were divided into 4 groups. Among these cases,384 women were more than 35 years old,329 had high risk and 153 had middle risk in Down′s syndrome biochemical screening,and 68 for other reasons. Amniotic fluid puncture and fetal karyotype analysis were carried out for positive on the test results,telephone fol1 ow up after fetus birth for the negative test. Results：（1）Among 934 cases,16 pregnant women were found with chromosomal abnormalities,including 10 cases of trisomy 21 syndrome,1 case of trisomy 18 syndrome,1 case of trisomy 19 and 4 cases which comfirmed abnormal in sex chromosome.（2）15 cases of chromosomal abnormalities did amniotic fluid puncture and chromosome karyotype analysis. All the 10 cases of trisomy 21 and 1 case of trisomy 18 did the puncture and the results were the same. Among 4 cases of sex chromosome test positive,3 cases did the puncture,including 2cases were abnormal,l case didn′t match,1 case refused the puncture and did the induction of labor. The case of trisomy 19 also did the puncture,but the result didn′t match. Conclusion：Sequencing technology of free fetal DNA in pregnant women of chromosomal aneuploidies had high detection rate and accuracy rate. In addition,non-invasive testing had the advantages of highefficiency,noninvasion,and easy operation for diagnosing. However,the noninvasive detection of abnomal DNA also need to be studied on other chromosomes.