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目的总结地中海贫血(地贫)人群干预农村示范点,开展地贫一级干预实践的成功经验,为出生缺陷干预工程的实施提供科学依据。方法通过宣传、培训、组织干预对象进行群体性地贫筛查,高危夫妇给予优生指导、产前诊断等干预措施,降低出生缺陷。结果 2009年应有8000对夫妇进行优生知识学习培训,培训率占98.4%。共有6 000对夫妇参加地贫筛查,筛查率75.0%(6 000/8 000),检出地贫表型阳性2 891例,检出率24.09%(2 891/12 000),其中为同类型地贫高危夫妇247对占4.12%(247/6 000);高危夫妇跟踪随访率为97.98%(242/247)。242对高危夫妇中,随访当年怀孕48例,符合进行产前诊断42例,产前诊断率87.5%(42/48)。42例孕妇产前诊断诊为重度地贫胎儿1例(已终止妊娠),中间型地贫胎儿6例,轻型地贫胎儿4例,正常胎儿31例。结论在地贫高发区,要形成政府主导、政策扶助、专家技术支持、基层计生网络配合的干预平台,以及建立地贫的群体筛查、重点人群干预的长效机制,才能形成地贫的社会干预合力,达到降低地贫出生缺陷的目的 。
Objective To summarize the successful experience of interfering with rural demonstration sites in thalassemia (thalassemia) population and carrying out first level intervention for thalassemia, and to provide a scientific basis for the implementation of intervention program for birth defects. Methods The population was poorly screened through publicity, training and organizational intervention. The high risk couples were given interventions such as prenatal guidance and prenatal diagnosis to reduce birth defects. Results In 2009, 8000 couples should be trained in prenatal knowledge learning, with a training rate of 98.4%. A total of 6,000 couples participated in thalassemia screening at a screening rate of 75.0% (6 000/8 000). A total of 2 891 cases of thalassemia were detected, with a detection rate of 24.09% (2 891/12 000), of which, Among the same type of poverty-stricken high-risk couples 247 pairs accounted for 4.12% (247/6 000); high-risk couples follow-up rate was 97.98% (242/247). Of the 242 high-risk couples, 48 were pregnant during the follow-up period, and 42 were consistent with prenatal diagnosis. The prenatal diagnosis rate was 87.5% (42/48). Forty-two pregnant women were diagnosed as having pre-natal severe thalassemia (terminated pregnancy), 6 with intermediate-type thalassemia, 4 with mild thalassemia, and 31 with normal fetuses. Conclusions In the high incidence area of poverty-stricken areas, a platform for government intervention, policy support, expert technical support, grass-roots family planning network cooperation platform and a long-term mechanism to establish population-based screening of thalassemia patients and intervention by key populations can be formed. Intervention together to achieve the purpose of reducing the birth defects of thalassemia.