The current updated 2023-2024 ACOG recommendation on NIPT (cell-free DNA screening) for fetal aneuploidy includes considerable details on the use of NIPT. The key recommendations can be summarized as follows:
- ACOG continues to recommend that NIPT be offered to all pregnant patients regardless of maternal age or risk of chromosomal abnormality.
- After review and discussions, every patient has the right to pursue or decline prenatal genetic screening as well as diagnostic testing.
- If screening is accepted, the patient should have only one prenatal screening approach and should not have multiple screening tests performed simultaneously.
- NIPT or cell-free DNA screening is not equivalent to diagnostic testing. NIPT has the potential for false positive and false negative results.
- All patients should be offered a second-trimester ultrasound for fetal structural defects, ideally performed between 18 and 22 weeks of gestation.
- Patients with a positive screening result for fetal aneuploidy should undergo genetic counseling and a comprehensive ultrasound evaluation with an opportunity for diagnostic testing to confirm results.
- Patients with a negative screening result should be aware that there is a decreased risk of aneuploidy, but it does not ensure that the fetus is unaffected. Also, patients with a negative screening result may choose diagnostic testing later in pregnancy.
- Patients with a cell-free DNA screening result that is non-reportable or uninterpretable should be informed that test failure is associated with an increased risk of aneuploidy and should receive further genetic counseling and be offered comprehensive ultrasound evaluation and diagnostic testing.
- NIPT or cell-free DNA screening can be performed in twin pregnancies.
In addition, the SMFM (Society for Maternal Fetal Medicine) has issued guidelines similar to those of ACOG.
The updated ACOG recommendations are presented in more detail on the ACOG website. The following is a list of reference links to the complete detailed ACOG recommendations and guidance and more:
Reference links:
American College of Obstetricians and Gynecologists (ACOG): Current ACOG Guidance: NIPT Summary of Recommendations: 2024, Available at
Current ACOG Guidance | ACOG Accessed April 12, 2024.
American College of Obstetricians and Gynecologists, NIPT Guidelines Summary: Sept 2020, Available at
Current ACOG Guidance | ACOG Accessed April 12, 2024.
Gregg AR, Skotko BG, Benkendorf JL, Monaghan KG, Bajaj K, et al. Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. Available at:
https://www.acmg.net/docs/NIPS_AOP.pdf. Accessed April 12, 2024.
