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目的:利用完善的计划生育三级服务网络进行多个目标病种的群体干预,逐步建立以降低唐氏综合征(包括18三体综合征)、重型地中海贫血及重大体表、内脏、骨骼畸形患儿出生率为目的的产前筛查和产前诊断服务体系。方法:唐氏筛查为中孕期血清学唐氏筛查,联合检测AFP、HCG、uE3三种标记物;地中海贫血采用MCV、MCH初筛和高效液相色谱(HPLC)复筛,阳性者进行基因诊断;地中海贫血、唐氏筛查高风险家庭进一步行产前诊断确诊。孕18～24周重大体表、内脏、骨骼畸形采用彩色多普勒进行排畸筛查。结果:1 320个唐氏筛查高风险家庭和91个地中海贫血高风险家庭进行了产前诊断,结果确诊染色体异常23例,重症地中海贫血22例。超声排畸筛查诊断重大体表、内脏、骨骼畸形183例。三大病种共确诊并终止妊娠共229例。结论:完善的计划生育三级服务网络有助于减少唐氏综合征(包括18三体综合征)、重型地中海贫血及重大体表、内脏、骨骼畸形患儿出生。
OBJECTIVE: To make use of a sound tertiary family planning service network to intervene in a number of targeted diseases, and to gradually establish and reduce Down’s Syndrome (including Trisomy 18), thalassemia major, visceral and skeletal deformities Prenatal screening and prenatal diagnosis service system for the purpose of birth rate in children. Methods: Down’s screening was used to screen Down’s serology in the second trimester, combined detection of AFP, HCG, uE3 three markers; thalassemia MCV, MCH primary screening and high-performance liquid chromatography (HPLC) Genetic diagnosis; Thalassemia, Down’s screening of high-risk families further confirmed by prenatal diagnosis. Pregnancy 18 to 24 weeks major body surface, internal organs, skeletal deformity using color Doppler screening for anomalous. Results: Prenatal diagnosis was performed in 1,320 high-risk Down’s families and 91 high-risk families with thalassemia. Twenty-three had chromosomal abnormalities and 22 had severe thalassemia. Ultrasonographic abnormalities screening diagnosis of major body surface, visceral and skeletal malformations in 183 cases. A total of 229 cases of the three major diseases were diagnosed and terminated. CONCLUSIONS: A sound tertiary family planning service network can help reduce the number of Down’s syndrome (including trisomy 18), thalassemia major and children with major body surface, visceral, and skeletal deformities.