地中海贫血高危妊娠夫妇的产前基因诊断
|
摘要
目的结合妊娠夫妇地中海贫血基因筛查结果,探讨地贫高危孕妇的产前诊断和妊娠结局,为本地区地贫防控项目的开展提供依据。方法以105对来我院进行产前咨询的妊娠夫妇为研究对象,通过对其双方进行外周血地贫基因检测,筛查出的高危孕妇进行羊水地贫基因产前诊断。结果籍贯为来自我国南部五个地贫高发省份且MCV、MCH结果异常的210例研究对象中,地贫基因携带率为97.62%;其中单纯性α地贫基因携带者占总携带人数的60.00%,单纯性β地贫基因携带率相对较低,占39.51%;进行产前地贫基因诊断的62例地贫高危孕妇的羊水标本中重型地贫占11.29%,主要检出--~(SEA)/--~(SEA)、β~(654)/β~(41-42)以及β~(654)/β~(654)三种基因型,此类孕妇须建议尽早终止妊娠。结论地中海贫血产前基因诊断需要结合夫妇双方地贫基因筛查进行;对地贫高危孕妇的妊娠结局加以干预以降低地贫出生缺陷率。
Objective:To analyze the results of thalassemia genetic screening in pregnant couples and to investigate the prenatal diagnosis and pregnancy outcome of high-risk pregnant women with thalassemia. The results will provide evidence for the thalassaemia prevention project for local guideline. Methods:A total of 105 pregnant couples who came to our hospital for prenatal consultation were selected as subjects. The genes of thalassemia from the peripheral blood were detected. The prenatal diagnosis of amniotic thalassemia gene detection was carried out of which were determined as high-risk pregnant women of thalassemia.Results:Among the 210 cases with abnormal MCV、MCH who come from five high-risk provinces of thalassemia in the south of China,the positive rate of thalassaemia was 97.62%;the positive ones with α-thalassemia gene accounted for 56.20% of the total ones,and the β-thalassemia positive rate was relatively low,accounting for 43.90%;in the amniotic fluid specimens of 62 high-risk pregnant women with thalassemia,the severe thalassemia accounted for 11.29%,mainly as--SEA/--SEA、β654/β41-42 and β654/β654,such pregnant women must recommend termination of pregnancy as soon as possible. Conclusion:Prenatal genetic diagnosis of thalassemia needs to be carried out as genetic screening for thalassemia in both spouses. Pregnancy outcomes of highrisk pregnant women with thalassemia should be intervened to reduce the birth defect rate of thalassemia.
Objective:To analyze the results of thalassemia genetic screening in pregnant couples and to investigate the prenatal diagnosis and pregnancy outcome of high-risk pregnant women with thalassemia. The results will provide evidence for the thalassaemia prevention project for local guideline. Methods:A total of 105 pregnant couples who came to our hospital for prenatal consultation were selected as subjects. The genes of thalassemia from the peripheral blood were detected. The prenatal diagnosis of amniotic thalassemia gene detection was carried out of which were determined as high-risk pregnant women of thalassemia.Results:Among the 210 cases with abnormal MCV、MCH who come from five high-risk provinces of thalassemia in the south of China,the positive rate of thalassaemia was 97.62%;the positive ones with α-thalassemia gene accounted for 56.20% of the total ones,and the β-thalassemia positive rate was relatively low,accounting for 43.90%;in the amniotic fluid specimens of 62 high-risk pregnant women with thalassemia,the severe thalassemia accounted for 11.29%,mainly as--SEA/--SEA、β654/β41-42 and β654/β654,such pregnant women must recommend termination of pregnancy as soon as possible. Conclusion:Prenatal genetic diagnosis of thalassemia needs to be carried out as genetic screening for thalassemia in both spouses. Pregnancy outcomes of highrisk pregnant women with thalassemia should be intervened to reduce the birth defect rate of thalassemia.
引文
[1]徐湘民.地中海贫血预防控制操作指南[M].北京:人民军医出版社,2011,8-36.
[2]张小庄,冯占春,叶宁,等.地中海贫血的预防控制[M]北京:人民卫生出版社,2014,7-24.
[3]唐希才,王融,苏巧云,等.产前筛查地中海贫血的平均红细胞体积截断值探讨及应用[J].实用医学杂志,2011,27(1):108-110.
[4]张有成,马星卫,潘国珍,等. 412例妊娠中期羊水细胞检测孕妇的指征及结果分析[J].中国优生与遗传杂志,2014,7:46-48.
[5]皮回春,吴曼祯,高玉山,等.绒毛及羊水穿刺术在地中海贫血产前诊断中的应用[J].深圳中西医结合杂志, 2015, 25(12):31-33.
[6]周剑英,谢杏梅,李东至,等.广州地区产前检查人群地中海贫血流行病学分析[J].中国优生与遗传杂志,2013,2:68-69.
[7]袁晖,吴维青,吴晓霞,等.深圳地区育龄人群地中海贫血基因型分布调查[J].中山大学学报(医学科学版),2012,33(4)553-557.
[8]李高驰,李思慧,曹宪振,等. 7岁以下地中海贫血患儿血液学表型的研究[J].广东医学,2017,38(18):2817-2818.
[9]吴杰,曾海燕.血液学分析联合基因诊断在地中海贫血产前诊断中的应用[J].国际检验医学杂志,2015,5:604-605.
[10]赵芳,何小洪,程静,等.广州地区1571例胎儿地中海贫血产前基因型与血液学特征分析[J].实用医学杂志,2016,32(21):3562-3565.
[2]张小庄,冯占春,叶宁,等.地中海贫血的预防控制[M]北京:人民卫生出版社,2014,7-24.
[3]唐希才,王融,苏巧云,等.产前筛查地中海贫血的平均红细胞体积截断值探讨及应用[J].实用医学杂志,2011,27(1):108-110.
[4]张有成,马星卫,潘国珍,等. 412例妊娠中期羊水细胞检测孕妇的指征及结果分析[J].中国优生与遗传杂志,2014,7:46-48.
[5]皮回春,吴曼祯,高玉山,等.绒毛及羊水穿刺术在地中海贫血产前诊断中的应用[J].深圳中西医结合杂志, 2015, 25(12):31-33.
[6]周剑英,谢杏梅,李东至,等.广州地区产前检查人群地中海贫血流行病学分析[J].中国优生与遗传杂志,2013,2:68-69.
[7]袁晖,吴维青,吴晓霞,等.深圳地区育龄人群地中海贫血基因型分布调查[J].中山大学学报(医学科学版),2012,33(4)553-557.
[8]李高驰,李思慧,曹宪振,等. 7岁以下地中海贫血患儿血液学表型的研究[J].广东医学,2017,38(18):2817-2818.
[9]吴杰,曾海燕.血液学分析联合基因诊断在地中海贫血产前诊断中的应用[J].国际检验医学杂志,2015,5:604-605.
[10]赵芳,何小洪,程静,等.广州地区1571例胎儿地中海贫血产前基因型与血液学特征分析[J].实用医学杂志,2016,32(21):3562-3565.