Shilpa Chetty
Publication Details
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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.
Obstet Gynecol Surv. 2011; (12): 765-76
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.
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