Maternal Genetic Skeletal Disorders: Lessons Learned From Cases of Maternal Osteogenesis Imperfecta and Fibrodysplasia Ossificans Progressiva

Abstract

Due to advances in neonatal care, prenatal diagnostics, and artificial reproductive techniques, women affected by skeletal disorders now survive into their reproductive years, desire fertility, and become pregnant. Osteogenesis imperfecta (OI) is a disease of brittle bones prone to fracture and is one of the most common of the skeletal dysplasias. Fibrodysplasia ossificans progressiva (FOP) is a rare debilitating genetic condition characterized by congenital malformations of the great toes and progressive, disabling heterotopic ossification (HO) in which bone forms outside of the skeleton. Here we report two cases of viable pregnancies with severe maternal skeletal disorders. This is only the fourth reported case of a viable pregnancy in a woman with FOP. These cases highlight the complexity of caring for women during pregnancy affected by severe skeletal disorders, the formidable risks when these women become pregnancy, and how these high-risk pregnancies can be successfully managed by a collaborative multidisciplinary care team.




J Clin Gynecol Obstet. 2015;4(1):184-187
doi: http://dx.doi.org/10.14740/jcgo306w