开展免费政府投入唐氏综合征筛查及诊断工作

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。

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.