(Reaffirmed October 2022)
Committee on Genetics
This Practice Advisory was developed by the American College of Obstetricians and Gynecologists’ Committee on Genetics in collaboration with Jennifer Hoskovec, MS, CGC and Melissa Russo, MD.
This is an area of evolving care and practice. Fellows should check periodically for revisions and updates. ACOG will communicate important changes and updates to these guidelines.
The continued innovation in cell-free technology combined with the desire for a maternal blood test to predict the risk for fetal genetic disorders during a pregnancy has broadened the application of cell-free DNA screening beyond aneuploidy to single-gene disorders. Examples of single-gene disorders include various skeletal dysplasias, sickle cell disease and cystic fibrosis. Although this technology is available clinically and marketed as a single-gene disorder prenatal screening option for obstetric care providers to consider in their practice, often in presence of advanced paternal age, there has not been sufficient data to provide information regarding accuracy and positive and negative predictive value in the general population. For this reason, single-gene cell-free DNA screening is not currently recommended in pregnancy.
This Practice Advisory focuses on the use of cell-free DNA screening technology specifically for identification of single-gene disorders. Aneuploidy screening recommendations are outlined in ACOG Practice Bulletin No. 163, Screening for Fetal Aneuploidy. The application of cell-free DNA technology for Rh disease and the current recommendations are addressed in the ACOG Practice Bulletin No. 192, Management of alloimmunization during pregnancy, and Practice Bulletin No. 181 Prevention of Rh D alloimmunization.
A Practice Advisory is issued when information on an emergent clinical issue (e.g. clinical study, scientific report, draft regulation) is released that requires an immediate or rapid response, particularly if it is anticipated that it will generate a multitude of inquiries. A Practice Advisory is a brief, focused statement issued within 24-48 hours of the release of this evolving information and constitutes ACOG clinical guidance. A Practice Advisory is issued only on-line for Fellows but may also be used by patients and the media. Practice Advisories are reviewed periodically for reaffirmation, revision, withdrawal or incorporation into other ACOG guidelines.
This information is designed as an educational resource to aid clinicians in providing obstetric and gynecologic care, and use of this information is voluntary. This information should not be considered as inclusive of all proper treatments or methods of care or as a statement of the standard of care. It is not intended to substitute for the independent professional judgment of the treating clinician. Variations in practice may be warranted when, in the reasonable judgment of the treating clinician, such course of action is indicated by the condition of the patient, limitations of available resources, or advances in knowledge or technology. The American College of Obstetricians and Gynecologists reviews its publications regularly; however, its publications may not reflect the most recent evidence. Any updates to this document can be found on www.acog.org or by calling the ACOG Resource Center.
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