title: 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.
authors.affiliation: Division of Maternal-Fetal Medicine, Medical Center Hospital of Vermont, Burlington, USA.
authors.forename: O
authors.initials: O
authors.lastname: Geifman-Holtzman
authors.forename: I M
authors.initials: IM
authors.lastname: Bernstein
authors.forename: E L
authors.initials: EL
authors.lastname: Capeless
authors.forename: P
authors.initials: P
authors.lastname: Hawley
authors.forename: L A
authors.initials: LA
authors.lastname: Specht
authors.forename: D W
authors.initials: DW
authors.lastname: Bianchi
mesh_terms: D001946:Breech Presentation; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics*; D011247:Pregnancy; D012189:Retrospective Studies