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Prenatal diagnosis of Duchenne and Becker muscular dystrophies: Underestimated problem of the secondary prevention of monogenetic disorders.

Diana MassalskaJanusz Grzegorz ZimowskiTomasz RoszkowskiJulia BijokMagdalena PawelecMałgorzata Bednarska-Makaruk
Published in: The journal of obstetrics and gynaecology research (2017)
Carrier status testing in women prior to conception has a positive impact on the frequency of first-trimester prenatal diagnosis and known D/BMD carrier status on the effectiveness of prenatal diagnosis. Due to the low percentage of women tested effectively prior to conception, carrier status testing in the families at risk should be propagated (including possibility of prenatal diagnosis of female fetuses).
Keyphrases
  • polycystic ovary syndrome
  • muscular dystrophy
  • randomized controlled trial
  • systematic review
  • pregnancy outcomes
  • pregnant women
  • insulin resistance
  • body composition