丽水地区32105例孕中期孕妇产前筛查及结果分析

Prenatal screening in Lishui area,Zhejiang province

目的通过产前筛查了解浙江省丽水地区孕中期孕妇唐氏综合征(DS)、18-三体综合征、神经管缺陷(NTD)及其他缺陷异常发病率。方法采用时间分辨免疫荧光分析法筛查32 105例孕中期孕妇血清标志物AFP和游离-βhCG。采用产前羊水细胞或脐静脉血细胞染色体检查以及三维B超进行确诊。同时追踪妊娠结局。结果32 105例孕妇中,高风险孕妇1 113例,阳性率3.47%。1 113例高风险孕妇中,确诊DS 9例、18-三体综合征2例、NTD 10例、其他缺陷异常50例。30 992例低风险孕妇中,有4例为DS、114例其他缺陷体异常,但未检出18-三体综合征及NTD。结论产前筛查是降低出生缺陷率的有效措施,但目前采用的产前筛查技术仍有待于完善。

Objective To investigate the morbidities of Down syndrome（DS）,Edwards syndrom,neural tube defect（NTD） and other chromosomal abnormalities in mid-pregnant womem in Lishui aera,Zhejiang province.Methods A total of 32 105 mid-pregnant women were tested for serum AFP and free-β hCG with time-resolved immunofluorescence technique.Final diagnosis was confirmed by 3D-ultrasound and chromosome examination of amniotic fluid cell or allantoic venous blood cells.The diagnostic results were compared with the follow-up outcomes of the pregnancies.Results 3.47%（1 153/32 105）of the mid-pregnant women were classified as a high risk group,from which 9,2,10 and 50 babies were born with disease of DS,Edwards syndrome,neural tube defect（NTD）and other chromosomal abnormalities,respectively.Only 4 and 114 babies with disease of DS and other chromosomal abnormalities were born from 30 992 low risk pregnant women.Conclusion Prenatal screening is an effective measure to decrease birth defect rate,although the current screening techniques should be further improved.