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强直性肌营养不良症女性的妊娠结局及CTG基因扩增分析

Outcome of pregnancy in women with myotonic dystrophy and analysis of CTG gene expansion.

作者信息

Erikson A, Forsberg H, Drugge U, Holmgren G

机构信息

Department of Paediatrics, County Hospital, Boden, Sweden.

出版信息

Acta Paediatr. 1995 Apr;84(4):416-8. doi: 10.1111/j.1651-2227.1995.tb13662.x.

Abstract

Pregnancy outcome was investigated in 32 women with clinically obvious myotonic dystrophy. The results indicated that there are two groups of women, those whose children have the adult type of myotonic dystrophy and those whose children have the congenital type. The overall perinatal mortality was 14%. Polyhydramnios was an obvious sign of the congenital type. No subclinical gene carrier was found among the children. We conclude that prenatal diagnosis should be offered to women with myotonic dystrophy, particularly to those who have previously given birth to a child with the congenital type.

摘要

对32例临床症状明显的强直性肌营养不良女性的妊娠结局进行了调查。结果表明,有两组女性,一组其子女患成人型强直性肌营养不良,另一组其子女患先天性强直性肌营养不良。围产期总死亡率为14%。羊水过多是先天性类型的明显体征。在这些孩子中未发现亚临床基因携带者。我们得出结论,应为强直性肌营养不良女性提供产前诊断,尤其是那些曾生育过先天性类型患儿的女性。

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