The purpose of this statement is to clarify that SMFM does not recommend that cfDNA aneuploidy screening be offered to all pregnant women, nor does it suggest a requirement for insurance coverage for cfDNA screening in women at low risk of aneuploidy. However, SMFM believes, due to the ethics of patient autonomy, that the option should be available to women who request additional testing beyond what is currently recommended by professional societies. This is comparable to the recommendation that it is ethically permissible for physicians to perform chorionic villus sampling or amniocentesis for genetic testing upon maternal request to low-risk women.

Limited data at the present time on the effectiveness and clinical utility for improving patient outcomes preclude a recommendation that cfDNA be actively offered to all pregnant women. This recommendation is supported by a recent study in which the authors found that cfDNA screening was only optimal as a first-line test at a maternal age of ≥40 years.

SMFM recognizes the value of cfDNA screening for women at higher risk for aneuploidy but considers that cfDNA screening is not the appropriate choice for first-line screening for the low-risk obstetric population at the present time. For this population, conventional screening methods remain the preferred approach. Given the misconceptions regarding interpretation of cfDNA screening results and the serious consequences that have been documented, there are significant concerns about the consequences of broad utilization of this test in low-risk women, the vast majority of whom do not undergo genetic counseling or detailed pretest counseling with a provider. The recommendation that pregnant women understand the limitations and benefits of this screening test should be an absolute requirement prior to performing the test, with a need for documentation of how that requirement was met. This might include genetic counseling by an independent counselor, documentation of review of unbiased educational materials, and other methods beyond simple ordering of the test. In such circumstances, SMFM would suggest that such counseling should be required prior to payment for this test.

SMFM is strongly committed to advancing care for women and children by raising the standards of prevention, diagnosis, and treatment of maternal and fetal disease. This mission requires a careful evaluation of the evidence surrounding the clinical utility of available interventions and providing advocacy and health policy leadership. SMFM will continue to closely follow advances in the area of genetic testing, as well as in all aspects of maternal-fetal care to assure optimal care for women and to provide guidance for maternal-fetal medicine subspecialists.