This identified >150 repeats in one copy of the DMPK gene of the both, which is consistent with the diagnosis DM1.<h4>Conclusions</h4>The sonographic findings of fetal limb abnormalities with progressive polyhydramnios is an indication for maternal neurological examination and genetic testing due to myotonic dystrophy. This evidence concerns the gene DMPK and myotonic dystrophy type 1.