广东地区6668例孕妇无创DNA产前检测结果分析

Analysis of non-invasive DNA prenatal detection results in 6668 pregnant women in Guangdong region

目的分析无创DNA产前检测(NIPT)技术在临床应用的年龄及孕周范围,探讨该检测方法在广东地区不同年龄段孕妇胎儿染色体非整倍体疾病产前检查中的应用价值。方法回顾分析2014年6月16日-2016年3月31日因故需行无创DNA产前检测的孕妇临床资料6 668例,并将孕妇分别按照年龄和孕周各分为5组进行比较分析。结果 6 668例检测者年龄介于16~50岁,检测孕周10~37周。检测出21、18及13三体阳性结果共51例(0.77%),其中21-三体28例(0.42%),占三体阳性的54.90%,21-三体阳性发病率远远高于其他两种疾病。不同年龄组孕妇胎儿三体异常的发生率不同,其中孕妇年龄≥40岁组胎儿出现三体异常的比例最高(1.42%)。结论三体异常的发病率在不同年龄组孕妇胎儿染色体三体异常的发病率不同,尤其在高龄孕妇(≥40岁)中明显升高。因此,无创DNA产前检测对高龄孕妇胎儿染色体非整倍疾病的产前诊断具有重要的应用价值。

Objective To analyze the application age and gestational age range of non-invasive DNA prenatal detection,explore the application value in prenatal screening of fetal chromosomal aneuploidy diseases among pregnant women in different age groups in Guangdong.Methods The clinical data of 6 668 pregnant women receiving non-invasive DNA prenatal detection in the hospital from June 16 th,2014 to March 31 st,2016 were analyzed retrospectively,then they were divided into five groups according to their age and gestational age,the data was compared and analyzed.Results The age of 6 668 pregnant women ranged from 16 to 50 years old,the gestational age was10-37 weeks.Fifty-one patients（0.77%） with trisomy 21 syndrome,trisomy 18 syndrome,and trisomy 13 syndrome were detected,the incidence rate of trisomy 21 syndrome was 0.42 %,and the proportion of trisomy 21 syndrome was 54.90 %,the incidence rate of trisomy 21 syndrome was higher than those of trisomy 18 syndrome and trisomy 13 syndrome.The total incidence rate of trisomy 21 syndrome,trisomy18 syndrome,and trisomy 13 syndrome among pregnant women in different age groups varied,and the total incidence rate in pregnant women aged 40 years old or more than 40 years old was the highest（1.42 %）.Conclusion The total incidence rates of trisomy 21 syndrome,trisomy 18 syndrome,and trisomy 13 syndrome among pregnant women in different age groups are different,which increases significantly in pregnant women aged 40 years old or more than 40 years old.Therefore,non-invasive DNA prenatal detection has important application value in prenatal diagnosis of fetal chromosomal aneuploidy diseases among pregnant women of advanced age.