运用连锁脱氧核糖核酸探针进行强直性肌营养不良的产前诊断。

Prenatal diagnosis of myotonic muscular dystrophy with linked deoxyribonucleic acid probes.

作者信息

Milunsky A, Skare J C, Milunsky J M, Maher T A, Amos J A

机构信息

Center for Human Genetics, Boston University School of Medicine, MA 02118.

出版信息

Am J Obstet Gynecol. 1991 Mar;164(3):751-5. doi: 10.1016/0002-9378(91)90509-p.

DOI:10.1016/0002-9378(91)90509-p

PMID:2003536

Abstract

Since the localization of the myotonic muscular dystrophy gene, closer deoxyribonucleic acid markers have been discovered. These now facilitate both presymptomatic and prenatal diagnosis of myotonic muscular dystrophy. We report our prenatal diagnosis experience with six cases in five families. Obstetricians are advised to inform their patients with a family history of myotonic muscular dystrophy of these testing opportunities. The fetus of the mother with myotonic muscular dystrophy who remains in utero until term is at considerable risk, as is the mother herself, of serious obstetric complications.

摘要

自从强直性肌营养不良基因被定位以来，已发现了更紧密的脱氧核糖核酸标记物。这些标记物现在有助于强直性肌营养不良的症状前诊断和产前诊断。我们报告了对五个家庭中六例患者进行产前诊断的经验。建议产科医生告知有强直性肌营养不良家族史的患者这些检测机会。患有强直性肌营养不良的母亲腹中的胎儿如果足月分娩，将面临与母亲本人一样的严重产科并发症的巨大风险。