Abstract
Aim To show the importance of prenatal diagnosis of Duchenne Muscular Dystrophy (DMD) and to demonstrate the effect of DMD gene mutations on gestational outcomes. Materials and Methods We retrospectively evaluated 89 pregnancies in 81 individuals who were referred to Hacettepe University for prenatal diagnosis of DMD between January 2000 and December 2015. Prenatal diagnostic methods (chorionic villus sampling (CVS): 66, amniocentesis (AC): 23) were compared for test results, demographic features, and obstetric outcomes of pregnancies. The female fetuses were divided into two groups according to the DMD status (healthy or carrier) to understand the effect of DMD gene mutations on obstetric outcomes. Results Eight prenatally diagnosed disease-positive fetuses were terminated. There was no statistically significant difference between the CVS and AC groups in terms of study variables. There were 46 male fetuses (51.6%) and 43 female fetuses (48.4%). Fifteen of the female fetuses were carriers (34.8%). Median birthweight values were statistically insignificantly lower in the carrier group. Conclusion Pregnancies at risk for DMD should be prenatally tested to prevent the effect of disease on families and DMD carrier fetuses had obstetric outcomes similar to DMD negative female fetuses.
Highlights
Duchenne muscular dystrophy (DMD) is an X-linked recessive disease with an incidence of 1 in 3500 live male births [1, 2]
We retrospectively evaluated 89 pregnancies in 81 individuals who were referred to the Division of Perinatal Medicine, Hacettepe University, Ankara, for the prenatal diagnosis of DMD between January 2000 and December 2015
Prenatal diagnosis of DMD is crucial because this disease has the most severe clinical symptoms among X-linked recessive inherited muscular dystrophies, and no curative treatment is currently available [1]
Summary
Duchenne muscular dystrophy (DMD) is an X-linked recessive disease with an incidence of 1 in 3500 live male births [1, 2]. Mutations in the DMD gene lead to progressive and symmetrical wasting of proximal muscles beginning from the lower limbs, and the affected children are wheelchair bound by the age of approximately 12 years. DMD gene is one of the largest human genes identified, which is composed of 79 exons, spanning 2.4 Mb of DNA in Xp21 [3]. The majority of DMD gene mutations are deletions (60-65%), followed by duplications (8-15%), and the remaining are composed of microdeletions/microinsertions, missense mutations, nonsense mutations, splicing mutations, and deep intronic mutations [3, 4]. Mutation detection may be difficult due to the large size of the gene, multiplex ligation-dependent probe amplification (MLPA) technology has eased the diagnosis [3, 5, 6]
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