摘要
目的探讨胎儿颈项透明层联合产前无创DNA检测在胎儿染色体疾病产前筛查中的应用。方法以我院妇产科于2012年1月~2016年1月期间收治的3725例产前筛查孕妇为研究对象,依据接受的检测方法分为NT组和联合组,NT组1860例,联合组1865例,NT组进行超声检测NT厚度检查,联合组采用超声测定NT厚度后再进行无创DNA检测,比较两组胎儿染色体异常检测结果和错误率。结果 NT组检测结果中NT<2.5mm的胎儿共计1741例,其中有7例通过羊水穿刺检测到染色体异常;NT≥2.5mm胎儿的共计119例,其中58例通过羊水穿刺检测为染色体异常;NT组测检测错误率为3.71%。联合组检测发现21三体综合征28例,18三体综合征17例,13三体综合征14例,性染色体异常8例,与羊水穿刺检测结果比较,共发生3例错误,检测错误率0.16%。联合组检测错误率显著低于NT组,两组检测错误率差异有统计学意义(χ~2=60.66,P<0.05)。结论颈项透明层厚度超声检查联合产前无创DNA检测在胎儿染色体疾病产前筛查中能显著降低错误率,提高检出率,安全有效,值得临床推广。
Objective To investigate the application of fetal nuchal translucency combined with non-invasive DNA detection on the prenatal screening for chromosomal diseases. Methods 3725 cases of pregnant women from Jan.2012 to Jan.2016 were taken as research object,and they were divided into NT group with 1860 cases and combination group with 1865 cases according to the test methods.patients in NT group were tested by ultrasonic detection of NT thickness,and patients in combination group were tested by fetal nuchal translucency combined with non-invasive DNA detection.The result and error rate of the two groups were compared. Results In the NT group,1741 cases of NT 〈 2.5mm and 7 cases were abnormal according to the amniocentesis.119 cases NT ≥ 2.5mm and 58 cases were abnormal according to the amniocentesis.The error rate was 3.71%.In the combination group,there were 21 cases of Down＇ s syndrome,18 cases of trisomy 18 syndrome,13 cases of trisomy 13 syndrome and 8 cases of sex chromosome abnormality,and 3 cases occurred to be wrong according to the amniocentesis.The error rate was 0.16%.The error rate of combination group were significantly lower than that of NT group（χ2=60.66,P 〈 0.05）. Conclusion Fetal nuchal translucency combined with non-invasive DNA detection can effectively decrease the error rate and increase the detection rate in the prenatal screening for chromosomal diseases.It is safe and effective,and it is worth to be promoted.
出处
《中国医药科学》
2017年第5期101-104,共4页
China Medicine And Pharmacy
基金
广东省肇庆市科技局立项(44011120163778K)
关键词
染色体疾病
颈项透明层
无创DNA检测
临床应用
Chromosomal diseases
Fetal nuchal translucency
Non-invasive DNA detection
Clinical application
