This disease is characterized by various connective tissue changes, including skin hyperelasticity. In the more severe types, rupture of any of several arteries can cause either stroke or bleeding. There are several disease types based on skin, joint, or other tissue involvement. Some are autosomal dominant, some recessive, and some X-linked (Solomons, 2013). Their aggregate prevalence approximates 1 in 5000 births (Prockop, 2015). Types I, II, and III are autosomally dominant, and each accounts for approximately 30 percent of cases. Type IV is uncommon but is known to predispose to preterm delivery, maternal great-vessel rupture, postpartum bleeding, and uterine rupture (Pepin, 2000). In most, the underlying molecular defect afects collagen or procollagen.
In general, women with Ehlers-Danlos syndrome reportedly have a higher frequency of preterm rupture of membranes, preterm delivery, and antepartum and postpartum hemorrhage (Volkov, 2006). That said, a recent cohort study of314 women reported no greater risk of adverse pregnancy outcome, including preterm birth (Sundelin, 2017). Several cases of spontaneous uterine rupture have been described (Rudd, 1983). Tissue fragility makes episiotomy repair and cesarean delivery diicult. Hurst and colleagues (2014) surveyed 1769 respondents of the Ehlers-Danlos National Foundation and found a preterm birth rate of 25 percent and infertility rate of 44 percent. A maternal and fetal death from spontaneous rupture of the right iliac artery has been reported (Esaka, 2009). Bar-Yosef and associates (2008) described a newborn with multiple congenital skull fractures and intracranial hemorrhage caused by Ehlers-Danlos type VIIC.
This disorder has a prevalence of 1 in 20,000 births for type I and 1 in 60,000 for type II. It is characterized by brittle bones and afected patients often have blue sclerae, hearing loss, multiple prior bone fractures, and dental abnormalities. There are up to 15 subtypes based on the causative gene and clinical picture, which ranges from mild to severe (Van Dijk, 2010). Genetic inheritance includes autosomal dominant, autosomal recessive, and sporadic patterns. Type I is the mildest form, and the typical mutation afects the COLIAI gene (Sykes, 1990). Type II is typically lethal in utero (Prockop, 2015).
Women with osteogenesis imperfecta, most commonly type I, may have successful pregnancies. hat said, several risks in pregnancy include fractures, complications related to scoliosis with restrictive lung disease, micrognathia, brittle teeth, an unstable cervical spine, uterine rupture, and cephalopelvic disproportion. A retrospective cohort of 295. women with osteogenesis imperfecta found greater risks of antepartum hemorrhage, abruption, fetal-growth restriction, congenital malformations, and preterm birth (Ruiter-Ligeti, 2016). It is not unusual for afected women to enter pregnancy having had 20 to 30 prior fractures. Most require minimal treatment other than management of the fractures and consideration of bisphosphonates to decrease bone loss.
Depending on the type of osteogenesis imperfecta, the fetus may be afected and may also sufer fractures in utero or during delivery (Chap. 10, p. 210). Prenatal diagnosis is available in many situations, if desired, and in utero stem cell therapy is being evaluated (Couzin-Frankel, 2016).