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目的对地中海贫血(地贫)进行产前筛查以及诊断分析的结果进行观察与探讨。方法将10000例接受产前检查夫妇进行常规地中海贫血筛查,并对同为α-地贫或β-地贫携带者的夫妇进行相应的产前诊断。结果 10000例接受产前检查的夫妇中检测出α-地贫携带者570例(5.7%)和β-地贫携带者360例(3.6%);80对同为α-地贫携带者夫妇,经过产前诊断,其中正常胎儿22例,轻型地中海贫血胎儿32例,重型地中海贫血胎儿26例;30对同为β-地贫携带者夫妇,经过产前诊断,其中正常胎儿10例,轻型地中海贫血胎儿13例,重型地中海贫血胎儿7例。结论对地中海贫血进行产前筛查以及基因诊断,可大大降低患儿的出生率,值得临床推广应用。
Objective To investigate and discuss the results of prenatal screening and diagnosis of thalassemia (thalassemia). Methods A total of 10,000 prenatal couples undergoing antenatal screening were screened for routine thalassemia and corresponding prenatal diagnosis was performed on couples with carriers of either alpha-thalassemia or beta-thalassemia. Results 570 cases (5.7%) of a-thalassemia carriers and 360 cases (-3.6%) of carriers of β-thalassemia were detected among the 10,000 prenatal couples. Eighty-eight couples with carriers of α-thalassemia, After prenatal diagnosis, of which 22 cases of normal fetuses, 32 cases of thalassemia minor and 26 cases of heavy thalassemia; 30 couples with the same carrier of β-thalassemia, after prenatal diagnosis, including 10 normal fetuses, light Mediterranean 13 anemic fetuses and 7 severe thalassemia carriers. Conclusion Prenatal screening and genetic diagnosis of thalassemia can greatly reduce the birth rate in children, worthy of clinical application.