Cell-free DNA for the detection of fetal aneuploidy

Screening for fetal aneuploidy via cell-free DNA was described more than two decades ago and has been used clinically by obstetric providers in the United States for more than 5 years. Cell-free DNA affords excellent detection of fetal Down syndrome and other common aneuploidies and thus is sought by patients and providers. However, owing to the source of the DNA and the nature of the screening test, scenarios may arise that require expert counseling about complex issues regarding fetal and maternal health, test interpretation, and management. It is essential that infertility specialists understand the specific issues related to the strengths and limitations of this screening test, especially in light of expanded genetic testing of embryos.