Cell-free DNA to Screen for Single-Gene Disorders

  • Practice Advisory PA
  • February 2019

(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.

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