α-地中海贫血早期产前诊断

Early stage antenatal diagnosis of deletional α-thalassemia

目的：探索α－地中海贫血早期产前诊断的方法；方法：利用聚合酶链反应技术对8例高危妊娠者采用绒毛取样进行缺失型α－地中海贫血的早期产前诊断；结果：检测出胎儿水肿综合症2例，杂合子4例．正常胚胎2例，其中3例孕中期行羊水检查，证实了绒毛诊断的准确性；结论：绒毛取样是诊断缺失型α－地中海的一种安全可靠的孕早期产前诊断方法。

Objective: To study early stage antenatal diagnosis of deletional α-thalassemia of Southeast Asian type (SEA). Methods: We used chorionic villus sampling (CVS) in the genotyping and antenatal diagnosis of 8 high risk pregnancies of α-thalassemia by PCR technique. Results: 2 homozygotes,4 heterozygotes and 2 normal infants were detected in the early stage of pregnancy. Of them amniocentesis was performed in 3 cases in the middle trimester. The results were same as those in the early stage. Conclusion:The present method of chorionic villus sampling is safe and reliable in the early stage antenatal diagnosis of the α-thalassemia of SEA.