孕妇地中海贫血筛查与产前诊断分析

Screening and Prenatal Diagnosis of Thalassemia in Pregnant Women

目的 分析孕妇地中海贫血筛查与产前诊断结果.方法 选取2018年1月-2019年6月于我院进行产前检查的19,157例孕妇,产检期间首先进行血常规检测,疑似孕妇接受电泳检查,依然疑似者最终接受基因检测以作产前诊断.结果 19,157例孕妇血常规检测检出7,892例疑似地中海贫血孕妇,阳性率41.20%(7,892/19,157);7,892例疑似地中海贫血孕妇接受电泳检测后检出1,056例,阳性率5.51%(1,056/19,157);1,056例疑似地中海贫血孕妇接受基因检测,最终产前诊断186例,发病率0.97%(186/19,157),其中41例中重型地中海贫血孕妇行引产终止妊娠;疑似地中海贫血孕妇血常规检查结果、电泳结果与正常孕妇相比,有统计学差异(P<0.05).结论 血常规与电泳为目前地中海贫血孕妇的主要筛查手段,产前诊断以基因检测结果为参照,对于降低地中海贫血发病率具有重要意义.

Objective To analyze the screening and prenatal diagnosis of thalassemia in pregnant women.Methods A total of 19,157 pregnant women who underwent antenatal examination in our hospital from January 2018 to June 2019 were selected.Blood tests were performed during the examination.The suspected pregnant women were subjected to electrophoresis.The suspects were eventually genetically tested for prenatal diagnosis.Results Of the 19,157 pregnant women,7,892 pregnant women with suspected thalassemia were detected,the positive rate was 41.20%(7,892/19,157);7,892 cases of suspected thalassemia pregnant women were detected by electrophoresis,and 1,056 cases were detected,the positive rate was 5.51%(1,056/19,157).1,056 cases of suspected thalassemia pregnant women received genetic testing,the final prenatal diagnosis of 186 cases,the incidence rate of 0.97%(186/19,157),of which 41 cases of moderate to severe thalassemia pregnant women induced labor termination of pregnancy;suspected thalassemia pregnant women blood routine test results.The electrophoresis results were statistically different from those of normal pregnant women(P<0.05).Conclusion Blood routine and electrophoresis are the main screening methods for pregnant women with thalassemia.Prenatal diagnosis with genetic test results as reference is of great significance for reducing the incidence of thalassemia.