开展免费政府投入唐氏综合征筛查及诊断工作

【摘要】 目的为降低出生缺陷,提高出生人口素质,政府投入开展免费唐氏综合征筛查及诊断工作。方法由政府财政投入专项资金,发挥人口计生部门网络优势,利用潍坊市妇幼保健院产前诊断资质,制定方案,规范程序,加强宣传,全面开展免费唐氏综合征产前筛查和诊断工作。结果应用上述方法对67 406例孕妇进行唐氏综合征筛查,筛查出21-三体、18-三体高风险孕妇2692例,1767例通过做羊水穿刺细胞培养,确诊唐氏综合征23例,18三体综合征10例,两性畸形10例,猫叫综合症2例,不良妊娠37例,均已终止妊娠。染色体多态性49例,均已进行优生遗传指导。结论这种方法依靠政府财政投入,充分发挥计生网络优势,以卫生医技实力为保证,在预防唐氏综合征患儿出生中,优势明显,具有重要政治意义和经济、社会效益。更多还原

【Abstract】 Objective:To decrease birth defects and improve new-born population quality,local government is offering free prenatal Down syndrome screening and diagnosis to all pregnant women.Methods: Government set up a project budget and utilize the network of family planning department.With standard protocols and procedures,including the qualification of prenatal diagnosis by Weifang Women and Infants Hospital,the project is successfully carried out.Result: The project screened 67406 pregnanct women with 2692 high risk cases for trisomy 21 and trisomy 18.1767 of those high risk cases went through amniocentesis,identifying 23 cases of Down syndrome,10 cases of Edwards syndrome,10 cases of sex chromosome defect,2 cases of Cri-du-chat syndrome and 37 other abnormal pregnancies.All of the identified abnormal pregnancies are terminated with consent.49 cases of chromosome polymorphism are offered genetic consultation.Conclusion: This project,financed by local government,utilizing family planning department network and ensured by reliable medical technique,achieves great advantage in preventing Down syndrome live birth.Such project bears important political,economic and social significance.更多还原