A neonatal form of Steinert's myotonic dystrophy in twins after in vitro fertilization

Abstract

To report a case of nonidentical twins affected with a congenital form of Steinert's myotonic dystrophy (DM1), conceived by IVF owing to parental sterility, in which the mother presented a paucisymptomatic form of DM1 which was diagnosed as a result of the condition inherited by the twins. Case report. Neonatal intensive care unit of a tertiary hospital. Newborn twins affected with the congenital form of DM1 and a 35-year-old nulliparous mother. In vitro fertilization. Molecular study of the CTG triplet expansion related with DM1. Molecular study evidenced a pathologic expansion in both twins as well as in their mother. This case should serve as a reminder to practitioners that assisted reproductive techniques have opened the possibility that asymptomatic or paucisymptomatic carriers of a genetic syndrome can inadvertently conceive fetuses affected with more serious forms of the illness.