地中海贫血筛查在产前检查中的临床应用

目的 探讨地中海贫血筛查在产前检查中的临床意义.方法 通过对所有孕妇实施产前地中海贫血筛查,并对筛查阳性标本进行基因诊断,对夫妻为同型地中海贫血患者进行产前诊断,杜绝重症地中海贫血患儿出生.结果 在8626例被筛查标本中,查出地中海贫血966例,占11.20%,夫妻为同型地中海贫血者26对,经产前诊断主动发现重型地中海贫血患儿7例,占26.9%.结论 在地中海贫血高发区实施产前地中海贫血筛查和产前诊断是避免重症地中海贫血患儿出生的有效措施.

Clinical application of thalassemia screening in prenatal examination

Objective To explore the clinical significance of thalassemia screening in prenatal care. Methods All pregnant women through prenatal thalassemia screening, and screening positive samples for gene diagnosis of the husbands and wifes for the same type of prenatal diagnosis of thalassemia patients, to prevent children born with severe thalassemia. Results In 8626 cases who were screened samples, 966 cases were found thalasscmia, accounting for 11.20% , husbands and wifes for the same type of thalassemia were 26 couples, the prenatal diagnosis of children with thalassemia major was found in 7 cases, accounting for 26.9 %. Conclusion In the Mediterranean with high incidence of anemia, the implementation of prenatal screening and prenatal diagnosis of thalassemia is effective measures to avoid the severe thalassemia births.