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

Chetty, Shilpa Prema MD*; Shaffer, Brian L. MD; Norton, Mary E. MD

Obstetrical & Gynecological Survey: November 2011 - Volume 66 - Issue 11 - p 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.

*Fellow, ‡Professor of Obstetrics and Gynecology, Department of Obstetrics and Gynecology, Stanford University School of Medicine/Lucile Packard Children's Hospital (LPCH) at Stanford University, Stanford, CA, and †Assistant Professor of Obstetrics and Gynecology, Department of Obstetrics and Gynecology, Oregon Health and Science University, Portland, OR

Chief Editor's Note: This article is part of a series of continuing education activities in this Journal through which a total of 36 AMA/PRA Category 1 Credits™ can be earned in 2011. Instructions for how CME credits can be earned appear on the last page of the Table of Contents.

The authors, faculty and staff in a position to control the content of this CME activity and their spouses/life partners (if any) have disclosed that they have no financial relationships with, or financial interest in, any commercial organizations pertaining to this educational activity.

Correspondence requests to: Shilpa Chetty, MD, Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Stanford University, 300 Pasteur Drive, HH-333, Stanford, CA 94305. E-mail:

© 2011 Lippincott Williams & Wilkins, Inc.