Rashmi Rao1, David Cuthbertson2, Sandesh C S Nagamani3, Vernon Reid Sutton3, Brendan H Lee3, Jeffrey Krischer2, Deborah Krakow4. 1. Departments of Obstetrics and Gynecology (Drs Rao and Krakow). 2. College of Medicine, University of South Florida, Tampa, FL (Mr. Cuthbertson and Dr Krischer). 3. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX (Drs Nagamani, Sutton, and Lee); Texas Children's Hospital, Houston, TX (Drs Nagamani, Sutton, and Lee). 4. Departments of Obstetrics and Gynecology (Drs Rao and Krakow); Human Genetics (Dr Krakow); Orthopaedic Surgery (Dr Krakow); Pediatrics (Dr Krakow), David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA.
Abstract
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.
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.
Authors: Madhuni Herath; Phillip Wong; Anne Trinh; Carolyn A Allan; Euan M Wallace; Peter R Ebeling; Peter J Fuller; Frances Milat Journal: Arch Osteoporos Date: 2017-09-30 Impact factor: 2.617
Authors: Jaskaran S Bains; Erin M Carter; Kate P Citron; Adele L Boskey; Jay R Shapiro; Robert D Steiner; Peter A Smith; Michael B Bober; Tracy Hart; David Cuthbertson; Jeff Krischer; Peter H Byers; Melanie Pepin; Michaela Durigova; Francis H Glorieux; Frank Rauch; Joseph M Sliepka; V Reid Sutton; Brendan Lee; Sandesh Cs Nagamani; Cathleen L Raggio Journal: JBMR Plus Date: 2019-01-07