Clinical |

Ob-Gyns Release Revised Recommendations on Screening and Testing for Genetic Disorders

Washington, DC—All women need accurate information in order to make appropriate decisions regarding the various forms of genetic screening and diagnostic testing available in pregnancy. Importantly, these decisions must align with each individual woman's values, goals, and preferences. In an effort to clarify the purposes of and differences between prenatal genetic screening and prenatal genetic diagnostic testing, and to aid practitioners in giving women the information they seek, today the American College of Obstetricians and Gynecologists (ACOG) and the Society for Maternal-Fetal Medicine (SMFM) released two Practice Bulletins: "Screening for Fetal Aneuploidy" and "Prenatal Diagnostic Testing for Genetic Disorders."


According to the revised Practice Bulletins, prenatal genetic screening is designed to assess whether a patient is at increased risk of having a fetus affected with a genetic disorder, such as fetal Down syndrome. In contrast, prenatal genetic diagnostic testing is intended to diagnose, with as much certainty as possible, whether a specific genetic disorder or condition is present in the fetus. Women with a positive screening result for fetal genetic disorders should always be offered further counseling and diagnostic testing. Prenatal genetic screening and diagnostic testing should be discussed as early as possible in pregnancy, ideally at the first obstetric visit, so that first trimester options are available.

Cell-free DNA (cfDNA) screening is a rapidly evolving area of pregnancy care and the revised Practice Bulletin, "Screening for Fetal Aneuploidy," includes a new section on this screening test. Because screening tests return both false positive and false negative results, all screening tests, such as cfDNA screening, require confirmation with diagnostic testing, such as an amniocentesis or chorionic villus sampling. Committee Opinion #640, "Cell-free DNA Screening for Fetal Aneuploidy," has further information on cfDNA screening.

Nancy C. Rose, MD, previous chair of ACOG's Committee on Genetics and lead author of "Screening for Fetal Aneuploidy" stated, "Although it is important to offer all pregnant women, regardless of their age, screening or diagnostic testing for genetic disorders, there is no one test that is superior to all others. Furthermore, testing should be an informed patient choice, congruent with shared-decision making. Women also have the right to decline both genetic screening and testing, and all decisions should be supported."

Regarding prenatal diagnostic testing, Mary E. Norton MD, SMFM President, and lead author of "Prenatal Diagnostic Testing for Genetic Disorders," added, "It is important to note that diagnostic testing is safe and should be an option for all women."

Practice Bulletins "Screening for Fetal Aneuploidy" and "Prenatal Diagnostic Testing for Genetic Disorders" are available online. Both Practice Bulletins are "published-ahead-of-print" to get this updated clinical information out as expeditiously as possible to ob-gyns and other women's health care providers.

For more information:

Screening for Fetal Aneuploidy:
Prenatal Diagnostic Testing for Genetic Disorders:

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.

The Society for Maternal-Fetal Medicine (est. 1977) is the premiere membership organization for obstetricians/gynecologists who have additional formal education and training in maternal-fetal medicine. The society is devoted to reducing high-risk pregnancy complications by sharing expertise through continuing education to its 2,000 members on the latest pregnancy assessment and treatment methods. It also serves as an advocate for improving public policy, and expanding research funding and opportunities for maternal-fetal medicine. The group hosts an annual meeting in which groundbreaking new ideas and research in the area of maternal-fetal medicine are shared and discussed. For more information visit