Mother and child with osteogenesis imperfecta type III. Pregnancy management, delivery, and outcome

Abstract Objectives Thanks to the advances of modern medicine it has become possible to reach a fertile age even in the case of serious illnesses, enabling those patients to realize their desire to have children. This is also the case with the extremely heterogeneous, often autosomal dominantly inherited osteogenesis imperfecta. Due to a disruption in collagen synthesis those patients are faced with multiple fractures, spinal deformities and a decrease in pulmonary capacity throughout the course of their lives, depending on the subtype and severity of the disease. Obstetricians as well as anesthetists face major interdisciplinary challenges in the case of a pregnancy in those patients because of pregnancy-associated risks like uterine rupture, preterm birth and postpartum hemorrhage as well as risks associated with the nature of osteogenesis imperfecta itself, like bone fractures, spinal deformities and decreased mobility in the course of the progressing pregnancy. Mode of delivery should be planned individually in order to minimize maternal morbidity and mortality. In cases in which the fetus is as well affected by the disease, this aspect must be taken into consideration when it comes to supervision of pregnancy and planning of the birth mode. Case presentation We report the case of a woman with osteogenesis imperfecta type III who spontaneously conceived a pregnancy with a fetus who was also affected by the genetic disease. This constellation has up to now been reported by only few sources and requires supervision by an experienced perinatal center. Conclusions Osteogenesis imperfecta is not an exclusion diagnosis for family planning and a successful delivery. Nevertheless, depending on the form of the disease, mother and child can be severely affected by the disturbed collagen synthesis. Each patient has to be individually advised and cared for with the specific risks due to the type of Osteogenesis imperfecta. In the case of type III, due to extreme scoliosis, pelvic deformity and small growth, only a primary cesarean section can be performed.