Abstract

MORALES DE MACHIN, Alisandra; MACHIN, Enrique  and  BRACHO, Ana. Myotonic dystrophy type 1 and pregnancy. Genetic counseling. A case presentation. Rev Obstet Ginecol Venez [online]. 2025, vol.85, n.3, pp.493-504.  Epub Oct 23, 2025. ISSN 0048-7732.  https://doi.org/10.51288/00850320.

The clinical case of a pregnant woman with myotonic dystrophy type 1 and genetic counseling are described. This is a 28-year-old patient with myotonic dystrophy type 1, a history of three pregnancies, with two early neonatal deaths. At 38 weeks of gestation, a cesarean section was performed, obtaining a female newborn without signs or symptoms of congenital myotonic dystrophy. It is concluded that pregnancy and puerperium in a mother with myotonic dystrophy type 1 are usually complicated and there is the possibility of conceiving a child with congenital myotonic dystrophy. Genetic counseling and effective management can reduce morbidity and mortality for women and help them plan their pregnancies.

Keywords : Myotonic dystrophy type 1; Pregnancy; Genetic counseling.

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