Pregnancy in women with osteogenesis imperfecta: pregnancy characteristics, maternal, and neonatal outcomes

Am J Obstet Gynecol MFM. 2021 Jul;3(4):100362. doi: 10.1016/j.ajogmf.2021.100362. Epub 2021 Mar 26.


Background: Women with rare diseases, such as osteogenesis imperfecta, may consider pregnancy, although data regarding outcomes, specific risks, and management strategies are lacking.

Objective: The Brittle Bone Disorders Consortium of the National Institute of Health Rare Diseases Clinical Research Network established an Osteogenesis Imperfecta Pregnancy Registry to collect and evaluate pregnancy, maternal, and neonatal outcomes in women with osteogenesis imperfecta.

Study design: This was a cross-sectional, survey-based study. Appropriate participants of the Brittle Bone Disorders Consortium Contact Registry were invited to participate in the study. Self-reported information regarding pregnancy characteristics and maternal and neonatal outcomes of women with osteogenesis imperfecta was compared with that of the general population, referenced by literature-based standards. Furthermore, compared with the general population, cohorts of women and fetuses with osteogenesis imperfecta were evaluated to determine whether the presence of osteogenesis imperfecta conveyed an increase in antepartum, intrapartum, and postpartum complications and an increase in adverse neonatal outcomes.

Results: Here, a total 132 participants completed the survey. Compared with the general population, women with osteogenesis imperfecta had higher rates of diabetes in pregnancy (13.3% vs 7%; 95% confidence interval, 7.0-19.6; P=.049), cesarean delivery (68.5% vs 32.7%; 95% confidence interval, 59.9-77.1; P<.001), need for blood transfusion (8.3% vs 1.5%; 95% confidence interval, 3.9-12.8; P=.019), and antepartum and postpartum fractures (relative risk, 221; 95% confidence interval, 59.3-823; P<.001). Maternal hospitalization and cesarean delivery rates were higher in individuals with moderate or severe osteogenesis imperfecta than women who reported mild osteogenesis imperfecta. Neonates born to women with osteogenesis imperfecta had higher risk of being low (26.2% vs 6.8%; P<.001) or very low birthweight (13.8% vs 1.4%; P<.001) infants than the general population. Neonates born to women with osteogenesis imperfecta had a higher rate of neonatal intensive care unit admissions (19% vs 5.68%; P<.001) and higher neonatal mortality at 28 days of life (4.8% vs 0.4%; P=.026), regardless of neonatal osteogenesis imperfecta status.

Conclusion: Pregnancies for women with osteogenesis imperfecta are at an increased risk of complications, including hemorrhage, fractures, diabetes mellitus, and increased neonatal morbidity.

Keywords: fractures; maternal; neonatal outcomes; osteogenesis imperfecta; pregnancy.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Cesarean Section
  • Cross-Sectional Studies
  • Female
  • Humans
  • Infant
  • Infant Mortality
  • Infant, Newborn
  • Intensive Care Units, Neonatal
  • Osteogenesis Imperfecta* / epidemiology
  • Pregnancy