目的对夫妇地中海贫血基因携带者的孕妇于孕11~14周行绒毛活检行地贫基因检测,探讨经腹绒毛活检在早期产前诊断中的价值。方法对63例孕妇在B超引导下经腹行绒毛活检,抽取绒毛行地贫基因诊断。观察取材成功率、检测准确性及母胎并发症。结果取材成功率为100.0%,63例中夫妇双方α地贫52例,产前诊断结果纯合子(巴氏水肿胎)10例,基因诊断分析均为--SEA/--SEA,血红蛋白H病1例,基因诊断分析为--SEA/α3.7,5例为点突变(3.7型1例,4.2型2例,WS型2例),23例为SEA型,正常胎儿13例。夫妇β地贫11例中,查得重型β地贫(β41-41/41-42双重杂合子)2例,单一突变的杂合子5例(其中654杂合突变1例,41-42杂合突变4例)。重型α地中海贫血及重型β地贫胎儿共12例,血红蛋白H病1例,均及时终止妊娠。结论经腹绒毛活检是易于操作的安全、有效的早期产前诊断方法,可准确检出地贫基因,是阻止重型地贫患儿出生的有效措施。 OBJECTIVE: To evaluate the value of villus biopsy in early prenatal diagnosis of pregnant women with thalassemia gene carriers from 11 to 14 weeks pregnant. Methods Totally 63 cases of pregnant women were diagnosed by transthoracic villus biopsy under the guidance of ultrasound. Observe the success rate, detection accuracy and maternal fetal complications. Results The successful rate was 100.0%. There were 52 cases of α - thalassemia in both cases and 10 cases of homozygous (Pap smear) prenatal diagnosis. The genetic diagnosis was - SEA / - SEA, hemoglobin H disease 1 case, gene diagnostic analysis - SEA / α3.7, 5 cases were point mutation (3.7 cases in 1 case, 4.2 cases in 2 cases, WS cases in 2 cases), 23 cases were SEA type, normal fetus in 13 cases. Among 11 cases of β-thalassemia couples, 2 cases of severe β-thalassemia (β41-41 / 41-42 double heterozygote) and 5 cases of single mutant heterozygote (1 case of 654 heterozygous mutation and 41-42 heterozygote Mutation in 4 cases). A total of 12 cases of severe α-thalassemia and severe β-thalassemia, hemoglobin H disease in 1 case, were promptly terminated pregnancy. Conclusion Transabdominal villi biopsy is a safe and effective method of early prenatal diagnosis which is easy to operate. It can detect the thalassemia gene accurately and is an effective measure to prevent the birth of children with severe thalassemia.