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

BACKGROUND Women with rare diseases such as osteogenesis imperfecta may consider pregnancy, although data regarding outcomes, specific risks, and management strategies is 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 is 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 was compared to the general population, referenced by literature-based standards, and comparisons between cohorts of women and fetuses with osteogenesis imperfecta were evaluated to determine if the presence of osteogenesis imperfecta conveyed an increase in antepartum, intrapartum, and postpartum complications and an increase in adverse neonatal outcomes when compared to the general population. RESULTS 132 Participants completed the survey. Compared to the general population, women with osteogenesis imperfecta had higher rates of diabetes in pregnancy (13.3% vs. 7%, p=0.049, CI: 7.0%-19.6%), cesarean section (68.5% vs. 32.7%, p<0.001, CI: 59.9-77.1%), need for blood transfusion (8.3% vs. 1.5%, p=0.019, CI: 3.9-12.8%), and antepartum and postpartum fractures (RR 221, 95% CI: 59.3-823, p<0.001). Maternal hospitalization and cesarean rates were higher in individuals with moderate or severe osteogenesis imperfecta as compared to the women who reported mild osteogenesis imperfecta. Neonates born to women with osteogenesis imperfecta had higher risk for being low (26.2% vs. 6.8%, p<0.001) or very low birth weight (13.8% vs. 1.4%, p<0.001) infants as compared to 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<0.001) and higher neonatal mortality at 28 days of life (4.8% vs. 0.4%, p=0.026), regardless of neonatal osteogenesis imperfecta status. CONCLUSION Pregnancies for women with osteogenesis imperfecta are at an increased risk for complications including hemorrhage, fractures, diabetes, and increased neonatal morbidity.