Analysis of results of prenatal diagnosis for 67 pedigrees affected with Duchenne muscular dystrophy in the central plain region of China

Abstract

To retrospectively analyze the results of prenatal diagnosis for 67 pedigrees affected with Duchenne muscular dystrophy (DMD) from the Central Plain Region of China and explore the optimal diagnostic strategy. Probands from the 67 pedigrees were subjected to multiplex ligation-dependent probe amplification (MLPA), next-generation sequencing (NGS) and Sanger sequencing to attain the diagnosis. The fetuses were subjected to prenatal diagnosis, and the results were verified with short tandem repeat (STR) analysis. Among the 67 probands, large deletions, duplications and small mutations have accounted for 73.13% (49/67), 10.45% (7/67), and 16.42% (11/67), respectively. A hotspot deletion has involved exons 45 to 52. There were 11 small mutations, among which four were unreported previously. De novo mutations have accounted for 41.80% (28/67), of which 27 were novel large fragment deletions. Prenatal diagnosis was provided to 39 women who have carried the DMD gene mutations, 10 fetuses were identified as male patients and 7 fetuses were female carriers. Among the prenatal diagnosis results of 28 non-carrier pregnancies, one fetus was a male patient with the same mutation site as the proband. For the prenatal diagnosis of DMD, in addition to known pathogenic mutations, deletion of large fragments should also be excluded. Mothers of probands who do not carry the DMD mutation should also undergo prenatal diagnosis to rule out gonadal mosaicism.