Distrofia miotónica tipo 1 y embarazo. Asesoramiento genético. Presentación de caso

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.