常见重大出生缺陷群体筛查干预的三年实践

Three-year Practice of Population-based Screening and Intervention on Common Major Birth Defects

目的探索基于计划生育服务网络的常见重大出生缺陷群体筛查干预模式。方法采用主动全程监测和服务模式,通过健康教育、社区参与、跟踪监测及提供遗传筛查和咨询、自愿产前诊断和终止妊娠服务,自2007年起在广州市对已婚待孕或已孕夫妇进行地中海贫血、唐氏综合征及重大先天性畸形群体筛查干预。结果试点区共有19308对已婚待孕或已孕夫妇参加了出生缺陷群体筛查,人群筛查覆盖率为73.75%。筛查确诊中重型地贫胎儿30例、唐氏综合征和其他重大染色体异常胎儿20例、重大先天性畸形儿110例。在上述160名被诊断怀有重症缺陷胎儿的孕妇中,157名知情选择终止妊娠,妊娠终止重症缺陷病例占筛查孕妇的比例为8.13‰。结论依托计划生育服务体系,主动全程服务和监测群体预防模式可有效减少常见重大出生缺陷患儿的出生。

The purpose of this paper is to explore population-based approaches for screening of common major birth defects based on Chinese family planning network.A population-based program for screening of thalassaemia,Down syndrome and major fetal malformations has been conducted in Guangzhou since 2007, based on public health education and community involvement.Active and full-range monitoring and service system was developed to follow up the pregnant women and to offer a series of genetic checks including genetic screening,counseling and voluntary prenatal diagnosis followed by option of pregnancy termination for affected fetuses.19,308 couples in total had received genetic checks and the screening coverage rate reached 73.75%.There were 30 fetuses detected with thalassemia major,20 with Down syndrome or with other severe chromosome abnormality,110 with severe fetal malformations.157 out of 160 whose fetuses with severe diseases voluntarily terminated the pregnancies,accounting for 8.13‰.To conclude,based on Chinese family planning network,active and full-range monitoring and service model can effectively reduce the birth of common major birth defects.