An analysis of prenatal diagnosis of 1408 fetuses with Duchenne/Becker muscular dystrophy family history

Abstract Objective: In order to support clinical genetic counseling, investigate the best diagnostic method, and effectively manage the birth of DMD/BMD children in the Chinese population, this study analyzes the prenatal genetic diagnosis results of 1408 fetuses with high risk of DMD/BMD. Background: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) both are types of Pseudohypertrophic muscular dystrophy, a severe X-linked genetically inherited disease. Since currently there is no effective treatment for DMD/BMD, it is crucial to carry out an accurate prenatal diagnosis in order to prevent the birth of children who have the terrible condition. Methods: Probands from the 1316 pedigrees were subjected to multiplex ligation-dependent probe amplification (MLPA), next generation sequencing (NGS) and Sanger sequencing to attain the diagnosis, followed by carrier screening of their mothers. The1408 fetuses with high risk were subjected to prenatal diagnosis, and the results were verified with short tandem repeat (STR) linkage analysis. Results: Among all 1408 fetuses, 282 fetuses were identified as male patients, 219 fetuses were female carrier, and the rest were normal. In addition, gonadal mosaicism was observed in11 mothers. Conclusions: For pregnancies with a high risk of DMD/BMD, prenatal diagnosis can serve as a foundation for reproductive intervention, helping to prevent the birth of children who will probably develop DMD/BMD. A precise and rapid prenatal diagnosis can be obtained using STR linkage analysis, MLPA, NGS and Sanger sequencing.