13610例孕妇地中海贫血筛查与产前诊断分析

Analysis on screening and prenatal diagnosis of thalassemia in 13610 pregnant women

目的：探讨以孕妇为对象的干预模式对预防重型地中海贫血（简称地贫）患儿出生的价值。方法：2010年7月～2013年6月采用血液学指标对在广西妇产医院、妇幼保健院就诊的13 610例孕妇进行地贫筛查,筛查阳性者进一步进行α-或β-地贫基因检测,高危妊娠建议产前诊断。结果：13 610例孕妇中筛查表型阳性2 796例,基因确诊1 552例,包括α-地贫1 081例、β-地贫497例,α-合并β-地贫26例。370对夫妇为同型地贫基因携带者,其胎儿确诊为重型α-地贫35例、重型β-地贫9例和中间型β-地贫24例,均在产前得知诊断结果后1周内终止妊娠;其余胎儿确诊为HbH病54例、地贫基因携带178例和正常70例。结论：孕妇为筛查对象的产前筛查和诊断模式能有效地控制重型地贫患儿出生。

Objective： To explore the value of intervention model with pregnant women as objects for preventing birth of children with severe thalassemia. Methods： Hematologic parameters were used to screening for thalassemia in 13 610 pregnant women from the hospital from July 2010 to June 2013, the women with positive results further underwent α - or β - thalassemia gene detection, and prenatal di- agnosis was performed if the women were found with high risk pregnancy. Results： Among 13 610 pregnant women, there were 2 796 women detected as positive phenotype of thalassemia, and 1 552 women were diagnosed definitely by gene detection, including 1 081 women were α- thalassemia, 497 women with β - thalassemia and 26 women with α- thalassemia combined with β- thalassemia. A total of 370 couples were diagnosed as carriers of the same thalassemia gene, among their fetuses, 35 fetuses were diagnosed definitely as severe α- thalassemia, 9 fetuses were diagnosed definitely as severe β- thalassemia and 24 fetuses were diagnosed definitely as mediate type β - thalassemia, all the couples terminated pregnancy within one week after prenatal diagnosis. Among the other fetuses, 54 fetuses were diagnosed definitely as HbH disease, and 178 fetuses carried thalassemia gene, 70 fetuses were normal. Conclusion： Prenatal screening and diagnosis in pregnant women can effectively control the birth of children with severe thalassemia.