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目的探讨孕中期二联法产前筛查与妊娠结局的关系,并回顾性分析杭州市萧山区唐氏综合征(DS)、爱德华综合征(ES)、神经管缺陷(NTD)等出生缺陷的发生率。方法采用时间分辨免疫荧光分析法检测孕中期孕妇血清中甲胎蛋白(AFP)和人绒毛膜促性腺激素(free-β-HCG)的浓度并进行风险评估,通过羊膜腔染色体检查及诊断性B超进行确诊,并随访所有孕妇的妊娠结局。结果 25 796例孕妇中筛查出DS 608例、ES 38例、NTD 89例。高、低风险孕妇中异常发生率分别为5.71%和1.03%。高、低风险孕妇组异常妊娠结局有显著性差异。低风险孕妇中随访到DS漏检2例,NTD漏检2例,其他新生儿出生缺陷53例,多为临界风险值或者多项血清标记物MOM值异常。结论二联法产前筛查是降低出生缺陷率的有效措施,同时应针对临界风险值或多项血清标记物MOM异常者进行进一步的检查,最大程度地避免先天缺陷儿的出生。
Objective To investigate the relationship between prenatal screening and pregnancy outcomes in the second trimester of pregnancy and to analyze retrospectively the incidence of birth defects such as Down Syndrome (DS), Edward’s syndrome (ES) and neural tube defects (NTD) in Xiaoshan District of Hangzhou City Occurrence rate. Methods The concentrations of AFP and free-β-HCG in pregnant women during the second trimester of pregnancy were determined by time-resolved immunofluorescence assay, and their risk was assessed by amniocentesis and diagnostic B Ultra diagnosis, and follow-up of all pregnant women’s pregnancy outcome. Results Among 25 796 pregnant women, DS 608 cases, ES 38 cases and NTD 89 cases were screened out. The abnormal rates in high and low risk pregnant women were 5.71% and 1.03% respectively. Abnormal pregnancy outcomes in high and low risk pregnant women were significantly different. Among the low-risk pregnant women, 2 cases were missed by DS, 2 were missed by NTD, and 53 were other birth defects. Most of them were critical risk values or abnormal MOM values of multiple serum markers. Conclusion Prenatal screening is an effective measure to reduce the birth defect rate. At the same time, we should conduct further examination on the critical risk value or multiple abnormal markers of MOM to avoid the birth of the birth defects to the greatest extent.