中国实用儿科杂志

中国实用儿科杂志

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地中海贫血产前诊断操作规范建议

  

  1. 1. 昆明理工大学附属医院  云南省第一人民医院妇产科  国家卫生健康委员会西部孕前优生重点实验室， 云南  昆明 650032； 2.广东省妇幼保健院医学遗传中心  广东省地中海贫血防控中心， 广东  广州  511400
  • 出版日期:2018-12-06 发布日期:2019-03-08

A proposed working standard on prenatal diagnosis for thalassemia

  1. *Department of Obstetrics and Gynecology，Western Key Laboratory for Preconception Healthy Birth of State Commission of Health of China，First People’s Hospital of Yunnan Province，Affiliated Hospital of Kunming University of Science and Technology，Kunming  6500032，China
  • Online:2018-12-06 Published:2019-03-08

摘要：

产前诊断是地中海贫血（简称地贫）防控最有效的二级预防手段， 其目的是预防重型地贫患儿出生。对有生育重型或中间型地贫患儿的高风险孕妇， 在妊娠10～
14周或17～26周通过介入性取材得到胎儿细胞，提取胎儿脱氧核糖核酸（DNA）后进行地贫基因突变检测，从而对胎儿出生后是否患病做出产前诊断。地贫产前诊断的临床及实验室工作均需要严格的技术要求和质量控制。地贫的植入前遗传诊断技术要求较高，β地贫基因检测结合HLA配型的植入前产前遗传学诊断技术对生育过重型或中间型β地贫患儿的家庭有较高预防和治疗价值；地贫的无创产前诊断技术尚处于研究阶段，目前仍不能取代介入性取材的产前诊断方法。

关键词: 地中海贫血, 产前诊断, 操作规范

Abstract:

Prenatal diagnosis is the most effective secondary prevention method for prevention and control of thalassemia. Its purpose is to prevent the birth of children with major thalassemia. For high-risk pregnant women whose fetuses have risks of suffering from major or intermediate thalassemia，DNA samples from fetal cells could be obtained by invasive sampling at 11 to 14 weeks or 17 to 26 weeks of gestation. In order to diagnose whether the fetus is affected by major or intermediate thalassemia，the fetal DNA is extracted to perform molecular detection. The clinical and laboratory work of thalassemia prenatal diagnosis requires strict technical requirements and quality control. Preimplantation genetic diagnosis（PGD） for thalassemia is one of highly technical requirements. The combination of β-thalassemia PGD and HLA matching is highly applicable to families where there are children suffering from major or intermediate β-thalassemia. Non-invasive prenatal test（NIPT） for thalassemia is still in research stage，which is unable to replace the invasive prenatal diagnosis procedure.

Key words: thalassemia, prenatal diagnosis, operational standards