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

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomes, Human, Pair 19
  • Female
  • Humans
  • Myotonic Dystrophy / genetics*
  • Myotonic Dystrophy / physiopathology*
  • Polyhydramnios / etiology
  • Pregnancy
  • Pregnancy Complications / physiopathology*
  • Pregnancy Outcome*
  • Prenatal Diagnosis
  • Protein Kinases / genetics*
  • Repetitive Sequences, Nucleic Acid / genetics*

Substances

  • Protein Kinases