The American College of Obstetricians and Gynecologists is calling on ob.gyns. to work with a multidisciplinary team when managing pregnancy in women with genetic conditions.
“Preconception, prenatal, and postpartum management of women with genetic conditions can be complex, but a multidisciplinary approach to patient care can lead to optimal outcomes for both mother and baby,” Dr. Joseph R. Biggio Jr., chair of ACOG’s Committee on Genetics, said in a statement.
In its first-ever guidance on genetic conditions in pregnancy, the ACOG Committee on Genetics outlined the key features of certain maternal genetic conditions, including cystic fibrosis, Marfan syndrome, neurofibromatosis type 1, tuberous sclerosis, autosomal dominant polycystic kidney disease, classic phenylketonuria, Noonan syndrome, and myotonic dystrophy type 1 (Obstet Gynecol. 2015;126:e49-51.).
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Women with genetic conditions, and those at risk for genetic conditions, should have a preconception evaluation with a multidisciplinary team of caregivers that includes a genetic specialist, an obstetrician, and a maternal-fetal medicine specialist, according to the new recommendations. This evaluation aids in the development of a care plan and is also an opportunity to discuss risks to the mother and the neonate, partner carrier screening, and options for prenatal or preimplantation genetic diagnosis.
Depending on the genetic condition, the preconception care plan may include surgical or medical management prior to or during pregnancy. In other cases, the risk of mortality or morbidity is significantly elevated, and discussion of pregnancy avoidance may be considered.
Whether to discontinue medications with potentially teratogenic effects should involve a “thorough discussion with the appropriate members of the multidisciplinary team to review the risks, benefits, and therapeutic alternatives,” the ACOG committee members wrote.
Once pregnant, a woman with a genetic condition should have an initial prenatal examination early in the first trimester to evaluate pregnancy risks, and for testing and screening, according to ACOG. Further, these patients may require specialist referral at some point during the pregnancy. Finally, certain genetic conditions may place women at risk for potential complications requiring specialized monitoring, assisted delivery, and ongoing postpartum evaluations.
“Given the rarity and complexity of some genetic conditions in pregnancy and their evolving management strategies, a coordinated, multidisciplinary approach to care may provide the best opportunity to improve maternal and fetal outcomes,” the committee members wrote.