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

Abstract

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. Obstetricians & Gynecologists and Family Physicians. 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.