Management of Maternal Genetic Conditions in Pregnancy, Part 1: Disorders of the Connective Tissue, Muscle, Vascular, and Skeletal Systems

Importance The number of patients with various genetic syndromes who are or seek to become pregnant is increasing due to advances in medical care and assisted reproductive technologies. Management of these patients requires multidisciplinary care teams and knowledge of the risks of increased morbidity and mortality. In addition, many of these inheritance patterns are autosomal dominant, with a 50% risk of an offspring inheriting the disorder with each pregnancy. Objective In this first of a 2-part series, common syndromes with connective tissue, muscle, vascular, or skeletal involvement will be discussed regarding surveillance and management of mother and fetus. Evidence Acquisition A literature search was performed for important updates in the literature regarding management of patients with genetic connective tissue disorders, aortopathies, muscular dystrophies, vascular disorders, and skeletal dysplasias. Results Updates have been incorporated since the last publication in 2011, including updated diagnostic criteria for several conditions (such as Marfan syndrome), international guidelines in management of aortopathies and achondroplasia, an expanded section on hypermobile Ehlers-Danlos syndrome, and a new section on familial cerebral cavernous malformation. Conclusions Since the last publication, many guidelines have been published or updated regarding management of pregnancies in patients with genetic disorders and are reviewed in this article. Relevance Clinicians who care for pregnant patients with genetic disorders should be aware of updated guidelines and recommendations in order to optimize their care during pregnancy. Target Audience Obstetricians and gynecologists, family physicians Learning Objectives After participating in this activity, physicians should be better able to (1) describe how to manage patients with genetic disorders that place them at high risk for aortic dissection, uterine rupture, and cerebral hemorrhage during pregnancy; (2) formulate delivery plans for patients with skeletal dysplasias; (3) interpret ultrasound findings in the context of parental genetic disorders; and (4) explain how to counsel patients with genetic disorders regarding inheritance pattern and options for preimplantation and prenatal testing.