深圳市龙岗免费产前筛查与产前诊断的情况分析

Situation Analysis of Prenatal Screening and Prenatal Diagnosis for Free in Longgang District of Shenzhen City

目的:分析近2年深圳市龙岗区免费产前筛查与产前诊断的情况,优化筛查方案和流程。方法:对深圳市龙岗区2012年11月-2013年7月3431例进行免费无创基因检测孕妇和2014年3月-2015年2月23 746例免费产前血清学筛查孕妇的资料进行分析,分别统计各自筛查出的13三体、18三体、21三体及神经管缺陷(NTD)等的高风险人数及产前诊断证实的染色体异常人数,统计唐氏筛查及无创基因检测的费用。结果:无创基因检测的高风险人数明显低于早、中期唐氏筛查,无创基因检测的诊断准确率明显高于早、中期唐氏筛查,无创基因检测的诊断经费明显高于早、中期唐氏筛查,以上比较差异均有统计学意义(P<0.05)。结论:无创基因检测筛出率高,但费用高;虽然产前血清学筛查筛出率比无创基因检出率低,但其费用大大低于无创基因检测,其更适合大规模人群的筛查。

Objective： To analyze the situation of prenatal screening and prenatal diagnosis for free in Longgang district of Shenzhen city in order to optimize the scheme and process of the screening.Method： The date of 3431 pregnant women who received noninvasive genetic testing for free from November 2（）11 to July 2013 and 23 746 pregnant women who received prenatal screening for free from March 2014 to February 2015 were analyzed, they were all from Longgang district of Shenzhen city. The numbers of pregnant women with high risk of trisomy 13, trisomy 18, trisomy 21 and NTD were recorded.The number of pregnant women who were diagnosed with chromosome abnormality by prenatal diagnosis was recorded too.Recording the costs of noninvasive genetic testing and down＇s syndrome screening.Result： The number of people who were detected with high risk by noninvasive genetic testing was lower than that by down＇s syndrome screening of early and middle stage, the accuracy rate and funds of diagnosis with noninvasive genetic testing was higher than those with down＇s syndrome screening of early and middle stage, the differences above were all statistically significant （P〈0.05） .Conclusion： The screen out rate of noninvasive genetic testing is high, but its cost is high too.Although the screen out rate of prenatal serological screening is lower than that of the noninvasive genetic testing, but its cost is much lower than that of the noninvasive genetic testing, it is more suitable for the screening of large population.