This committee opinion from the American College of Obstetricians and Gynecologists (ACOG) provides management strategies for an increasing number of women with genetic conditions during pregnancy with the goal of achieving a normal pregnancy outcome. Recommendations include:
• Management of many genetic conditions during pregnancy is complex and may require a multidisciplinary approach from preconception through the postpartum period.
• Patients with genetic conditions, or those at risk of having a particular genetic condition, should have a preconception evaluation with their obstetrician–gynecologists, genetics specialists, maternal–fetal medicine specialists, or other appropriate subspecialists to optimize their care.
• Patients with established causative mutations for a genetic condition, and who desire prenatal genetic testing, should be offered preimplantation genetic testing with in vitro fertilization by a reproductive endocrinologist or prenatal diagnostic testing once pregnancy is established.
• Once pregnant, the patient with a genetic condition should have her initial prenatal examination early in the first trimester. This will allow for coordination of prenatal screening or testing and evaluation of pregnancy risks.
Citation: Committee Opinion No. 643. American College of Obstetricians and Gynecologists. Identification and referral of maternal genetic conditions in pregnancy. Obstet Gynecol 2015;126:e49–51.