孕早期产前筛查在唐氏综合征中的应用研究

The applied research of prenatal screening at the early pregnancy in the Down′s syndrome

目的通过对孕妇孕早期产前筛查的研究,降低唐氏综合征的出生率,减少出生缺陷。方法采用全自动荧光时间分辨仪检测血清中的标记物浓度,利用产前筛查风险评估软件分析唐氏综合征的风险值,并分析血清中标记物妊娠相关血浆蛋白A(PAPPA)、游离人绒毛膜促性腺激素(β-HCG)水平差异对诊断唐氏综合征的影响,还有结合无创DNA结果和产前诊断结果及妊娠结局的随访结果进行分析。结果3353例孕妇中唐氏筛查高风险115例,占筛查总数的3.43%,在孕早期孕妇血清中PAPPA和HCG的浓度改变对21-三体综合征风险评估影响较大,特别是高风险人群中PAPP-A的浓度减低比HCG增高更为明显,还有高风险人群不良分娩结局明显高于低风险孕妇。结论孕早期产前筛查对预防唐氏综合征患儿出生及出生缺陷起到较好的作用,具有较大的应用价值,并使产前诊断提前,而且对孕妇的妊娠结局有一定的指导意义。

Objective To reduce the birth rate of the Down′s syndrome and the birth defect by the research of the prenatal screening at the early pregnancy.Methods We used the automatic fluorescence time resolution instrument to check the marker concentration in the blood serum,and used the risk assessment software of the prenatal screening at the early pregnancy to analyse the risk value of the Down′s syndrome,meanwhile analyzed the effect of differences between the pregnancy associated plasma protein A(PAPPA)and the Free β human chorionic gonadotrophin(β-HCG)on Diagnostic Down′s syndrome,and analyzed the results by combining with the result of the noninvasive prenatal testing of fetal DNA,prenatal diagnosis results and pregnancy outcome.Results The high risk patient was 115 in the 3353 pregnant women,they accounted for the total number of 3.43 percent.Changing the concentration of the PAPPA and the HCG in the blood serum at the early pregnancy had a great impact in the risk assessment of trisomy 21 syndrome,particularly the concentration of PAPPA reducing was more evident than the concentration of the HCG improving in the high-risk people,and the poor delivery outcome was more than the low risk pregnant women in the high-risk people.Conclusion The prenatal screening at the early pregnancy has a essential influence in the prevention of Down′s syndrome and the birth defect,and has great value of the application and advances the prenatal diagnosis as well,in addition has the important direction to pregnancy outcome of the pregnant women.