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目的:探讨地中海贫血筛查与产前诊断在出生缺陷预防中的价值。方法:以产检的妊娠夫妇为地贫筛查对象,以MCV<82fl为地贫筛查阳性,对筛查阳性者进行地贫基因分析和产前诊断,对重型地贫的胎儿给予治疗性引产。结果:共筛查5292例,确诊轻型地贫685例,对孕妇中发现的重型地贫胎儿7例全部引产。结论:进行地中海贫血筛查与产前诊断可以避免重型地贫遗传病患儿的出生。
Objective: To explore the value of thalassemia screening and prenatal diagnosis in the prevention of birth defects. Methods: Pregnant couples were selected as thalassemia screening subjects. MCV <82fl was used as thalassemia screening positive test, and thalassemia gene analysis and prenatal diagnosis were performed on those with positive screening tests. . Results: A total of 5292 cases were screened and 685 cases of mild thalassemia were diagnosed. All 7 cases of severe thalassemia were found in pregnant women. Conclusion: Thalassemia screening and prenatal diagnosis can prevent the birth of a child with thalassemia major genetic disease.