胎儿地中海贫血产前基因诊断的应用分析
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摘要
目的探析胎儿地中海贫血产前基因诊断的应用价值。方法回顾性分析2017年1月—2018年10月我院接收的同型地中海贫血基因携带孕妇198例的临床资料,经给予介入性产前诊断,通过经腹脐静脉血穿刺术和经腹羊膜腔穿刺术提取胎儿细胞,分析α、β地中海贫血基因检测情况。结果 198例孕妇中,7.57%为重型α地贫,10.61%为血红蛋白H病,24.24%为轻型α地贫,12.12%为静止型α地贫,7.07%为重型或中间型β地贫,18.69%为轻型β地贫,19.70%为正常。经随访观察发现,有重型α地贫15例、重型或中间型β地贫12例和血红蛋白H病6例选择停止妊娠。介入性产前诊断1次穿刺成功率为96.46%,2次穿刺成功率为3.03%,3次穿刺成功率为0.51%。结论产前基因诊断地中海贫血高危孕妇,能有效防止重型地贫患儿的出生,对减少出生缺陷具有重要意义。
Objective To explore the value of prenatal genetic diagnosis of fetal thalassemia.Methods The baseline data of 198 pregnant women with homologous thalassemia gene carrier received in our hospital from January 2017 to October 2018 were retrospectively analyzed. After interventional prenatal diagnosis,fetal cells were extracted by transabdominal umbilical vein blood puncture and transperitoneal amniocentesis,and the detection of alpha and beta thalassemia gene was analyzed.Results Among the 198 pregnant women,7.57% were severe alpha thalassemia,10.61% were hemoglobin H disease,24.24% were light alpha thalassemia,12.12% were static alpha thalassemia,7.07% were heavy or intermediate beta thalassemia,18.69% were light beta thalassemia and 19.70% were normal. Follow-up observation showed that 15 cases of severe alpha thalassemia,12 cases of severe or intermediate beta thalassemia and 6 cases of hemoglobin H disease chose to stop pregnancy.The success rate of interventional prenatal diagnosis was 96.46% in one puncture,3.03% in two punctures and 0.51% in three punctures.Conclusion Prenatal genetic diagnosis of high-risk pregnant women with thalassemia can effectively prevent the birth of children with severe thalassemia,which is of great significance for the reduction of birth defects.
Objective To explore the value of prenatal genetic diagnosis of fetal thalassemia.Methods The baseline data of 198 pregnant women with homologous thalassemia gene carrier received in our hospital from January 2017 to October 2018 were retrospectively analyzed. After interventional prenatal diagnosis,fetal cells were extracted by transabdominal umbilical vein blood puncture and transperitoneal amniocentesis,and the detection of alpha and beta thalassemia gene was analyzed.Results Among the 198 pregnant women,7.57% were severe alpha thalassemia,10.61% were hemoglobin H disease,24.24% were light alpha thalassemia,12.12% were static alpha thalassemia,7.07% were heavy or intermediate beta thalassemia,18.69% were light beta thalassemia and 19.70% were normal. Follow-up observation showed that 15 cases of severe alpha thalassemia,12 cases of severe or intermediate beta thalassemia and 6 cases of hemoglobin H disease chose to stop pregnancy.The success rate of interventional prenatal diagnosis was 96.46% in one puncture,3.03% in two punctures and 0.51% in three punctures.Conclusion Prenatal genetic diagnosis of high-risk pregnant women with thalassemia can effectively prevent the birth of children with severe thalassemia,which is of great significance for the reduction of birth defects.
引文
[1]秦丹卿,何天文,尹爱华.地中海贫血产前基因诊断技术的临床应用[J].分子诊断与治疗杂志,2017,9(4):223-227、240.
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[2]屈艳霞,陈桂兰,李志华,等.产前地中海贫血基因诊断257例分析[J].中国计划生育学杂志,2015,23(5):324-327.
[3]赵婧,张艳芳,梁少霞.产前基因诊断预测地中海贫血胎儿的价值分析[J].中国当代医药,2015,22(10):4-6.
[4]陈文丽.地中海贫血产前筛查及基因诊断的研究[J].中国医药指南,2014,12(13):277-279.
[5]刘海花,胡萍,邹红萍,等.地中海贫血筛查在产前检查中的临床应用研究[J].临床医药实践,2016,25(9):646-648.