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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 value of NIPT in the clinical application of gestational age and gestational age range and to explore the value of this method in prenatal examination of fetal aneuploidy in different age groups in Guangdong. Methods A retrospective analysis of 668 cases of pregnant women with non-invasive DNA prenatal testing for their reasons from June 16, 2014 to March 31, 2016 was conducted. Pregnant women were divided into five groups according to their age and gestational age respectively for comparative analysis . Results 6 668 cases were aged between 16 and 50 years old. The gestational age ranged from 10 to 37 weeks. There were 51 positive cases (0.77%) of 21, 18 and 13 trisomy 21, trisomy 28 (0.42%), accounting for 54.90% of trisomy 3, the positive rate of trisomy 21 was much higher than that of trisomy 21 The other two diseases. The incidence of fetal trisomy in different age groups was different, with the highest proportion of trisomy (1.42%) in pregnant women ≥40 years old. Conclusion The incidence of trisomy in different age groups pregnant women with different incidence of fetal trisomy abnormalities, especially in older pregnant women (≥ 40 years) was significantly higher. Therefore, noninvasive DNA testing for prenatal diagnosis of prenatal diagnosis of aneuploidy in pregnant women has important value.