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Management of Pregnancy in Women With Genetic Disorders: Part 2: Inborn Errors of Metabolism, Cystic Fibrosis, Neurofibromatosis Type 1, and Turner Syndrome in Pregnancy

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

Obstetrical & Gynecological Survey: December 2011 - Volume 66 - Issue 12 - p 765-776
doi: 10.1097/OGX.0b013e31823cdd7d

With early diagnosis and increasingly effective medical care, more women with genetic syndromes are undergoing pregnancy, often presenting challenges for providers. Each year more women with genetic disease reach childbearing age. Advances in assisted reproductive technology have enabled pregnancy in a cohort of woman who experience impaired fertility because of their underlying diagnosis. Management of these women requires health care providers from multiple specialties to provide coordinated care to optimize outcomes. Potentially, serious medical issues specific to each diagnosis may exist in the preconception, antepartum, intrapartum, and postpartum periods, all of which must be understood to allow timely diagnosis and treatment. The fetus may also face issues, both related to risk for inheritance of the genetic disorder observed in the mother as well as risks related to her chronic disease status. In this article, the second of a 2-part series, we will review the key issues for managing women with various inborn errors of metabolism during pregnancy. Additionally, we will discuss the care of women with Turner syndrome, neurofibromatosis type 1, and cystic fibrosis.

Target Audience: Obstetricians & Gynecologists and Family Physicians

Learning Objectives: After the completing the CME activity, physicians should be better able to classify the pulmonary and nutritional issues facing women with cystic fibrosis in pregnancy, assess the baseline evaluation that should take place in women with Turner syndrome, NF1 and cystic fibrosis before attempting pregnancy and evaluate the fetal risks that can be observed in women with untreated inborn errors of metabolism.

*Fellow, ‡Professor, Department of Obstetrics and Gynecology, Stanford University School of Medicine/Lucile and Packard Children's Hospital (LPCH) at Stanford University, Stanford, CA; and †Assistant Professor, 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 2006. 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.