To summarize the clinical features of 22 probands diagnosed with congenital muscular dystrophy (CMD), and to provide genetic counseling and prenatal diagnosis for 23 fetuses of these pedigrees.

Data of 22 CMD patients who were treated in the Pediatric Department of Peking University First Hospital during October 2006 to March 2016 were analyzed. Informed written consents for participation in this study were obtained from the parents or guardians. Prenatal diagnosis was performed using DNA samples extracted from fetal villus cells of 12 cases at 11-13 gestational weeks and amniotic fluid of 11 cases at 18-22 gestational weeks. Direct DNA sequencing by polymerase chain reaction (PCR) and multiplex ligation-dependent probe amplification (MLPA) were used to detect CMD-related gene mutations. Linkage analysis of short tandem repeats (STRs) was used to identify maternal blood contamination and biological parents.

Thirteen out of the 22 probands with CMD were diagnosed with congenital muscular dystrophy type 1A (MDC1A), and all of them carried compound heterozygous mutations in LAMA2 gene. Prenatal diagnosis of 13 fetuses from these pedigrees found that four fetuses were wild-type, seven were heterozygotes and two carried the same mutations as their proband. Three probands with LMNA-related congenital muscular dystrophy (L-CMD) carried de novo mutations in LMNA gene. In these pedigrees, two fetuses were wild-type and one whose mother was mosaicism carried the same mutations as the proband. One proband with Ullrich congenital muscular dystrophy carried compound heterozygous mutations in COL6A2 gene and the fetus of the same pedigree was wild-type. Five probands were diagnosed with α-dystroglycanopathies. And among them, two cases of muscle-eye-brain disease (MEB) carried compound heterozygous mutations in POMGnT1 gene and the fetuses of the two peidgrees were heterozygotes; one case of congenital muscular dystrophy type 1C (MDC1C) had compound heterozygous mutations in FKRP gene and the fetus carried the same mutations; one patient diagnosed with POMGnT1-related congenital muscular dystrophy with mental retardation (CMD-MR) carried compound heterozygous mutations in POMGnT1 gene, and the fetus was positive for the same mutations; one proband with POMT1-related CMD-MR was positive for compound heterozygous mutations in POMT1 gene and the results of prenatal diagnosis for two fetuses of this pedigree showed that the first fetus had the same mutations as the proband, while the second was heterozygote.

No effective therapeutic method is available for CMD. Therefore, accurate genetic counseling and prenatal diagnosis are necessary to prevent CMD child from birth.

Muscular dystrophies; Prenatal diagnosis; Genetic testing