地中海贫血干预措施预防出生缺陷的效果分析

目的探讨地中海贫血干预措施预防出生缺陷的效果。方法对门诊所有产检孕妇及其丈夫27076例进行地中海贫血相关知识宣教，同时进行地中海贫血筛查，双方筛查阳性的夫妇均进行地中海贫血基因诊断，对高风险的孕妇进行产前诊断，确诊重型地中海贫血胎儿者建议终止妊娠。结果共筛查27076例，其中建卡孕妇筛查14877例，丈夫筛查12199例。地贫筛查双方均阳性的夫妇341对，其中高风险的孕妇148例进行产前诊断，确诊重型地中海贫血胎儿28例，均引产。结论孕期地中海贫血干预可以避免重度地中海贫血胎儿的出生，从而降低出生缺陷发生率。

Analysis on Effect of Thalassemia Interventions on Prevention of Birth Defects

Objective To investigate the effect of thalassemia interventions on the prevention of birth defects. Methods We performed the publicity and education of thalassemia-related knowledge in 27 076 cases （including pregnant women and their husbands） as well as a thalassemia screening in prenatal clinic. The couples whose thalassemia screening results showed positive were given a thalassemia gene diagnosis for both and prenatal diagnosis for high-risk pregnant women. The pregnant women with thalassemia major fetus were suggested to terminate pregnancy. Results A total of 27 076 cases were enrolled in the thalassemia screening, including 14 877 pregnant women building the card and 12 199 husbands. The thalassemia screening results were positive for 341 couples. One hundred and forty-eight cases of high-risk pregnant women were given a prenatal diagnosis, and 28 confirmed thalassemia major fetuses received induction of labor. Conclusion The thalassemia intervention during pregnancy can avoid the birth of thalassemia major fetuses, thereby it can reduce the incidence of birth defects.