A long anticipated joint statement regarding noninvasive prenatal testing (NIPT) from The American College of Obstetricians and Gynecologists (ACOG) and SMFM is now available, Committee Opinion #640 Cell-free DNA Screening for Fetal Aneuploidy. It is thorough and provides the guidance that many healthcare providers and organizations have been waiting for as they navigate how to responsibly implement this technology into practice. Here are the highlights:
- The decision about whether or not to undergo prenatal genetic testing should be a choice
- All patients should be counseled as to the risks, benefits, and alternatives of various methods of prenatal screening and diagnostic testing, including the option of no testing, should be discussed with all patients.
- NIPT is NOT the most appropriate first-line screening for women in the general obstetrics population
- Screens such as Integrated Screening for the general population have advantages over NIPT such as the ability to screen for a broader array of conditions that may affect the fetus
- Disadvantages of NIPT in the low risk population are a lower positive predictive value (PPV) with the testing
- Routine cell-free DNA screening for microdeletion syndromes should NOT be performed
- Screening for these microdeletions has not been validated in clinical studies
- NIPT is NOT recommended for women with multiple gestations
- More studies are needed, however ACOG/SMFM note that any screening that depends on maternal blood will not be able to distinguish between fetuses.
- Parallel or simultaneous testing with multiple screening methodologies for aneuploidy should NOT be performed.
- This practice is not cost-effective and may lead to conflicting results
- Management decisions, including termination of the pregnancy, should NOT be based on the results of the cell-free DNA screening alone.
- Diagnostic testing is needed to confirm positive NIPT results
- “No Call” results indicate a higher chance of a chromosome conditions and patients who receive these results should be offered further assessment:
- When results are not reported, indeterminate, or uninterpretable, patients should be referred for genetic counseling and offered comprehensive ultrasound evaluation and diagnostic testing
- NIPT should not be performed solely for early sex identification of the fetus.
- Patients should be counseled that this screening also assesses the risk of the chromosome conditions and if that information is not desired, the screening should not be performed.
The full guideline can be accessed here and we recommend that you read it in its entirety as it is chock-full of useful information. They also provide a link to useful resources for clinicians including materials produced by the National Society of Genetic Counselors (NSGC). Kuddos to ACOG & SMFM as these guidelines are thorough, thoughtful and patient-centered. So much of the marketing from NIPT companies is aimed at increasing uptake by expanding the market to the general obstetric population and increasing the number of conditions screened for. Additionally the companies are directly advertising to patients that these “simple blood tests” provide information about the sex of their baby without highlighting the uncertainty that can sometimes arise from this testing. This document provides an outline of the important risks, benefits and limitations of NIPT and will give confidence to providers to know how to use this test wisely, in the best interest of quality patient care.
To review what other professional organizations are recommending regarding NIPT, checkout Genetic Support Foundation’s NIPT “Cliff’s Notes”. And, to stay connected, sign up to receive updates from GSF!