Clinical |

ACOG Releases First-Ever Guidance on Pregnancy in Women with Genetic Conditions

Washington, DC—With proper management, women with certain genetic conditions are able to achieve normal pregnancy outcomes, according to a new Committee Opinion from the American College of Obstetricians and Gynecologists (ACOG). This reflects an increased understanding of these rare genetic conditions, as well as new reproductive technologies and improved medical and surgical care.


The opinion, “Identification and Referral of Maternal Genetic Conditions in Pregnancy,” was released by the College’s Committee on Genetics.

For women with genetic conditions, preconception evaluation by appropriate obstetrician-gynecologist specialists is recommended. This can help a woman to optimize her own health before pregnancy, review her health risks associated with pregnancy and delivery, screen the woman’s partner for carrier status, counsel about potential inheritance by the offspring, and create a plan of care that encompasses the ongoing control of her condition as well as her desire for a healthy pregnancy.

“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,” said Joseph R. Biggio, Jr., MD, Chair of the College’s Committee on Genetics.

To that end, the Committee Opinion recommends that ob-gyns counseling women about their genetic conditions consult with maternal-fetal medicine specialists, genetics specialists, anesthesiologists, and other medical and surgical specialists as appropriate; select genetic conditions are detailed in a chart included in the opinion.

“In treating women with genetic conditions during pregnancy, we must consider not just the health of the woman and her ability to carry and deliver a baby safely,” added Dr. Biggio. “Ob-gyns must also consider that women with these rare medical conditions may rely on medications that might have a teratogenic effect on the fetus, leading to potential complications during infancy and childhood and even into adulthood. However, in some cases, it may be medically necessary to continue medication.”

Because of that, ob-gyns should counsel patients regarding treatment options, including discontinuation of medication during pregnancy or therapeutic alternatives. Often, these treatment changes should be made prior to conception.

Of course, some genetic conditions are associated with significant maternal morbidity and mortality, so remain contraindications for pregnancy. For these women, ob-gyns should provide appropriate family planning and contraception counseling.

Committee Opinion 643, “Identification and Referral of Maternal Genetic Conditions in Pregnancy,” is published in the October issue of Obstetrics & Gynecology.

The American College of Obstetricians and Gynecologists (The College), a 501(c)(3) organization, is the nation’s leading group of physicians providing health care for women. As a private, voluntary, nonprofit membership organization of approximately 58,000 members, The College strongly advocates for quality health care for women, maintains the highest standards of clinical practice and continuing education of its members, promotes patient education, and increases awareness among its members and the public of the changing issues facing women’s health care. The American Congress of Obstetricians and Gynecologists (ACOG), a 501(c)(6) organization, is its companion organization.