ACOG Opinion on Pregnancy in Women With Genetic Conditions

Ricki Lewis, PhD

September 23, 2015

A committee opinion from the Committee on Genetics of the American College of Obstetricians and Gynecologists (ACOG), advises obstetrician-gynecologists treating women who have single-gene conditions to consult with subspecialists before and during pregnancy and during the neonatal period. The opinion is published in the October issue of Obstetrics & Gynecology.

"The care of women with genetic conditions can pose many challenges and often requires a multidisciplinary approach from the time pregnancy is contemplated or planned through the postpartum period," the authors write.

The need for the opinion arose from increasing knowledge about many genetic diseases, greater availability of assisted reproductive technologies, and improvements in medical and surgical care of individuals with certain single-gene (Mendelian) conditions. A multidisciplinary approach is also necessary because of the rarity of the conditions, their complex effects on multiple organ systems, and the possibility of intervention before conception, during pregnancy, and in the postpartum period.

Two single-gene conditions (cystic fibrosis and classic phenylketonuria) are inherited in an autosomal recessive manner, and six others (Marfan syndrome, neurofibromatosis type 1, tuberous sclerosis, autosomal dominant polycystic kidney disease, Noonan syndrome, and myotonic dystrophy type 1) are autosomal dominant. The mode of inheritance is important in predicting risks to offspring and whether or not the partner should be tested for carrier status, the authors note.

The opinion advises preconception evaluation to confirm the genotype of the patient, discuss carrier testing, assess the patient's health and modify treatment as necessary, and explain the risk to offspring of inheriting the condition and possible effects during pregnancy. During this visit, the clinician should offer preimplantation genetic diagnosis or prenatal testing, counsel the patient about the use of prenatal vitamins and folic acid supplementation before conception, and create a plan of care that addresses maternal, fetal, and neonatal risks. The preconception meeting should include discussion of specific interventions for the disease, such as medical foods or dietary restrictions to counter an inborn error of metabolism.

Obstetrician-gynecologists should consult appropriate subspecialists for the patient's condition, optimally preconception. The team might include experts in genetics, maternal–fetal medicine, anesthesiology, and reproductive endocrinology.

During pregnancy, medical management of the patient should evaluate use of treatments that are potentially teratogenic. "Patients should be counseled that medications should not be discontinued until a thorough discussion with the appropriate members of the multidisciplinary team to review the risks, benefits, and therapeutic alternatives," the authors write.

For genetic conditions that are associated with significant maternal morbidity and mortality, obstetrician-gynecologists should discuss the risks with the couple and either provide or refer them for contraception counseling.

The major points of the opinion are that:

  • management of single-gene conditions requires a multidisciplinary approach from preconception through the postpartum period;

  • preconception evaluation with the obstetrician-gynecologist, who has consulted appropriate subspecialists, can optimize care of mother and infant;

  • patients should be offered preimplantation genetic diagnosis or prenatal genetic testing; and

  • the initial consult during pregnancy should occur early in the first trimester to provide time to coordinate and evaluate results of prenatal testing.

Obstet Gynecol. 2015;126:e49-e51.


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