Management of pregnancy in women with genetic disorders, Part 1: Disorders of the connective tissue, muscle, vascular, and skeletal systems

Obstet Gynecol Surv. 2011 Nov;66(11):699-709. doi: 10.1097/OGX.0b013e31823cdd50.


Due to early diagnosis and increasingly effective medical advances, the number of women with various genetic syndromes who are undergoing pregnancy is increasing, and this represents an important issue for providers of obstetric care. Each year more women with genetic disease reach childbearing age. Advances in assisted reproductive technology have enabled pregnancy in a cohort of woman who may experience impaired fertility due to their underlying diagnosis. Management of these women requires coordination of care by healthcare providers from multiple specialties to optimize outcomes. Potentially serious medical issues specific to each diagnosis often exist in the preconception, antepartum, intrapartum, and postpartum periods, all of which must be recognized to allow timely diagnosis and treatment. The fetus may also face issues related to risk for inheritance of the genetic disorder itself, as well as risks related to the chronic disease status of the mother. This article will explore the issues faced by women with various genetic disorders that may affect connective tissue, muscular, vascular, and skeletal systems.

Target audience: Obstetricians & Gynecologists and Family Physicians.

Learning objectives: After the completing the CME activity, physicians should be better able to classify the cardiovascular manifestations observed in Marfan syndrome and Ehlers-Danlos, evaluate prenatal diagnostic options and limitations for various genetic syndromes, assess the risks to the fetus in women with various genetic syndromes. Determine whether there is a preferred mode of delivery for pregnant patients with various genetic syndromes described in this paper.

Publication types

  • Review

MeSH terms

  • Congenital Abnormalities / therapy*
  • Delivery, Obstetric
  • Ehlers-Danlos Syndrome / therapy*
  • Female
  • Genetic Diseases, Inborn / therapy*
  • Humans
  • Marfan Syndrome / diagnosis
  • Marfan Syndrome / therapy*
  • Perinatal Care
  • Pregnancy
  • Pregnancy Complications / diagnosis
  • Pregnancy Complications / therapy*
  • Prenatal Care