台州地区202677例孕中期产前筛查及随访结果分析  

Prenatal screening in Taizhou area

作　　者：干灵红[1] 许惠惠[1] 章鸯[1] 伍霞芳[1] 刘佳媚[1] 石卫武[1] 

机构地区：[1]浙江省台州医院中心实验室,临海317000

出　　处：《中国卫生检验杂志》2013年第5期1289-1290,1294,共3页Chinese Journal of Health Laboratory Technology

摘　　要：目的:探讨孕中期二联法产前筛查对胎儿出生缺陷监测的作用,并了解浙江省台州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)及其他缺陷发生率。方法:采用时间分辨免疫荧光分析法检测202677例孕中期孕妇血清标志物甲胎蛋白(AFP)和人绒毛膜促性腺激素(游离β-hCG),通过Multicalc和Risks2T风险评估软件进行风险评估。采用产前羊膜腔染色体检查以及诊断性B超进行确诊,并追踪妊娠结局。结果:202677例孕妇中,筛查出高风险孕妇7746例,阳性率3.82%。高风险孕妇中确诊DS66例、18-三体23例、NTD 62例和其他染色体异常89例。低风险孕妇中随访到DS漏检18例,18-三体漏检2例和其他染色体异常5例和其他出生缺陷54例。两组比较差异有统计学意义(P<0.01)。结论:产前筛查和诊断是降低出生缺陷率的有效措施,加强随访能够更好的指导优生工作。Objective：To evaluate the effectiveness of duplex process prenatal screening in detecting the fetus’s chro-mosomal abnormalities and neural tube defect at midterm pregnancy.Methods： A total of 202677 mid-pregnant women were tested for the concentrations of 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 outcome of the pregnancies.Results： Seven thousand,seven hundred and forty-six mid-pregnant women were classified as a high risk group,from which 66 babies were born with disease of DS,23 with Edwards syndrome,sixty-two cases with neural tube defect（NTD） and eighty-nine cases with other chromosomal abnormalities,respectively.Only 18 babies with disease of DS,two cases with Edwards syndrome,five cases with other chromosomal abnormalities and 54 cases with other defects were found from low risk pregnant women.Conclusion： Prenatal screening can improve the detection rate of the infants with congenital defects,which is an effective measure to improve the quality of birth population.

关 键 词：产前筛查 唐氏综合征 18-三体综合征 神经管缺陷 随访 

分 类 号：R714.5[医药卫生—妇产科学]