Based on the clinical phenotypes of the reported cases, we propose that when c.487 + 2 T > A or c.1395 T > G occurs in compound heterozygosity with other splicing or nonsense mutations in the ETFDH gene, it is highly likely to result in fetal-onset MADD with polycystic kidney disease. This evidence concerns the gene ETFDH and multiple acyl-CoA dehydrogenase deficiency.