不同年龄段孕妇无创DNA产前检测结果对比分析

Non-invasive prenatal DNA test results of pregnant women in different age groups: a comparative analysis

目的探讨无创DNA产前检测方法在不同年龄段孕妇胎儿常见染色体非整倍体疾病方面的临床应用价值。方法回顾性分析2012年1月-2014年12月到该院因各种高危因素行无创DNA产前检测的不同年龄段孕妇的临床资料1 566例,并分别计算21/18/13-三体综合征的发生率。将孕妇按照年龄分为〈35岁组、35~40岁组和〉40岁组,比较3组胎儿21/18/13-三体综合征的发生率。按照高危因素分为唐筛高风险组、B超异常组、不良生育史组和单纯高龄组,比较4组胎儿21/18/13-三体综合征的发生率。结果 1 566例标本中共检出三体阳性结果 23例（1.47%）,其中21-三体综合征的发病率远远高于其他两种疾病,占三体阳性比例为78.26%。孕妇年龄〉40岁组胎儿出现三体异常的比例（3.35%）明显高于其他两组,与〈35岁组（1.00%）比较差异有统计学意义（P〈0.05）;单纯高龄组胎儿出现三体异常的比例（2.66%）明显高于不良生育史组（0.30%）,差异有统计学意义（P〈0.05）。结论不同年龄段孕妇胎儿染色体三体异常的发生率不同,在高龄孕妇（≥35岁）人群中明显升高。因此,无创DNA产前检测可以作为高龄孕妇产前诊断胎儿21/18/13-三体综合征的首选方法。

Objective To explore the clinical application value of non- invasive prenatal DNA test in common chromosomal aneuploidy diseases of pregnant women in different age groups. Methods The clinical data of 1 566 pregnant women in different age groups receiving non- invasive prenatal DNA test because of various high- risk factors in the hospital from January 2012 to December 2014 were analyzed retrospectively,the incidence rates of trisomy 21 /18 /13 syndrome were calculated respectively. The pregnant women were divided into three groups according to age： 〈35- year- old group,35- 40- year- old group,and〉 40- year- old group. The incidence rates of trisomy 21 /18 /13 syndrome in the three groups were compared. The pregnant women were divided into high risk Down＇s syndrome group,B ultrasound abnormality group,adverse childbearing history group,and advanced age group. The incidence rates of trisomy 21 /18 /13 syndrome in the four groups were compared. Results Among 1 566 cases,23 cases（ 1. 47%） were found with positive trisomy syndrome,the morbidity of trisomy 21 syndrome was significantly higher than those of trisomy 18 /13 syndrome,which accounted for 78. 26%. The proportion of trisomy 21 /18 /13 syndrome in 〉40- year- old group（ 3. 35%） was significantly higher than those in the other two age groups,compared with〈 35- year- old group（ 1. 00%）,there was statistically significant difference（ P〈0. 05）. The proportion of trisomy 21 /18 /13 syndrome in advanced age group（ 2. 66%） was statistically significantly higher than that in adverse childbearing history group（ 0. 30%）（ P〈0. 05）. Conclusion The incidence rates of trisomy 21 /18 /13 syndrome were different in different age groups,which increased significantly in advanced age women（ ≥35 years old）. Therefore,non- invasive prenatal DNA test can be used as the first choice in prenatal diagnosis of fetal trisomy 21 /18 /13 syndrome among advanced age pregnant women.