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

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