The Impact of Prenatal Diagnosis in Egyptian Families with Duchenne Muscular Dystrophy

Abstract

Background: Duchenne Muscular Dystrophy (DMD) is one of the most common lethal X-linked recessive genetic muscle disorders. It is caused by various mutations in the dystrophin gene. Due to the lack of efficient rehabilitation and treatment, prenatal diagnosis and proper genetic counseling of families with DMD are of great importance.
Aim of the Work: This study aimed to evaluate an Egyptian prenatal molecular experience considering the impact of molecular information, the availability of prenatal diagnosis, and the changing attitude and choices of the Egyptian families with DMD.
Patients and Methods: The study characterized the deletion patterns in 85 Egyptian patients with DMD and 32 fetuses from 27 mothers with previous history of DMD deletion mutations. Multiplex PCR amplification of 18 exons covering the two hotspots within the dystrophin gene was pursued to detect deletions in the probands. Detection of deletions in the fetal DNA was performed by using the targeted multiplex containing the deleted exons.
Results: Forty-six out of eighty-five probands (55%) had deletion mutations. Twenty-four out of the forty-six (52%) probands had multiple exons deletion and twenty-two (48%) showed single exon deletion. Out of the thirty-two amniotic fetal samples, fourteen fetuses inherited the same deletions present in the index cases while eighteen were normal. An emerging awareness of genetic information was observed and an apparent higher number of mothers seeking prenatal diagnosis was noticed. A change of attitude in favor of choosing the decision of abortion was apparent.
Conclusion: Molecular diagnosis is an important tool for preventive medicine. It has an obvious impact on prenatal diagnosis and accurate genetic counseling. It also seems to have an impact on the attitude and choices of families in particular and society in general.

Keywords: DMD, dystrophin gene, deletion mutations.

Egypt. J. Hum. Genet Vol. 9 (1) 2008: pp. 105-110