摘要
地中海贫血(thalassemia)是全世界最常见的一种的不完全显性的单基因遗传性疾病。妊娠合并地中海贫血的孕妇围产期并发症和不良妊娠结局的风险明显增加,积极有效的产前筛查和产前诊断尤为重要。Bart′s水肿胎是导致镜像综合征的常见原因。做好产前咨询,可显著降低重型地贫缺陷儿的发生率,改善家庭生活质量,减轻社会负担。
Thalassemia is one of the most common unidentified single gene hereditary diseases in the world. Pregnancy with thalassemia in pregnant women with perinatal complications and adverse pregnancy outcomes increased significantly,active and effective prenatal screening and prenatal diagnosis is particularly important. Bart's waterlogging tires are common causes of mirror syndrome. Good prenatal counseling,can significantly reduce the incidence of heavy deaf poor children,improve family quality of life,reduce the social burden.
出处
《中国优生与遗传杂志》
2017年第11期4-6,9,共4页
Chinese Journal of Birth Health & Heredity
关键词
妊娠
地中海贫血
产前诊断
镜像综合征
Pregnancy
Thalassemia
Prenatal diagnosis
Mirror syndrome