Increase in fetal breech presentation in female carriers of Duchenne muscular dystrophy

Abstract

Female carriers of Duchenne muscular dystrophy (DMD) may demonstrate elevated serum creatine kinase (CK) and reduction of muscle dystrophin in all muscle types. We hypothesized that decreased dystrophin in uterine or pelvic girdle musculature might affect the obstetrical performance of females heterozygous for a dystrophin mutation. We reviewed the outcome of 34 deliveries resulting in 35 children from 13 women who were mothers of males attending a muscular dystrophy clinic. Obstetrical performance was examined retrospectively by chart review and patient contact. Of 35 children, 6 (17%) were delivered in the breech position, which is a fivefold increase above the national standards for term pregnancies. Of the six infants with breech presentation, two were males affected with DMD, one was a female heterozygote, one was a male who died perinatally, and the carrier status of the other two females is unknown. Most DMD affected males (12/14) were delivered in the vertex position. Thus, it is likely that maternal, rather than fetal, muscle weakness was the significant factor in determination of fetal position at term. We speculate that subtle changes in uterine or pelvic girdle muscle tone may contribute to a higher rate of fetal breech position in carriers of the DMD gene.

Obstetric management of a woman with limb-girdle muscular dystrophy type 2i and dilated cardiomyopathy

“…13 Increased breech presentation has also been reported in patients with Duchenne muscular dystrophy, again thought to be related to pelvic muscle weakness and decreased mobility. 14 This, in part, might explain the increased rate of caesarean sections found in women with LGMD. 13 The obstetric management of women with LGMD and cardiac complications has not been reported in the literature.…”

Neuromuscular Diseases in Pregnancy

“…DMD is the most common form of muscular dystrophy, with an estimate of 1 in 3300 male births. In a retrospective study on 35 gestations of DMD carrier women, 17% of the newborns had a breech presentation, which is about 5 times the rate of the normal population [139]. Although the female heterozygote carriers of DMD are usually asymptomatic, about 70% of them have significantly elevated serum CPK levels [136,137].…”