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The page below is a sample from the LabCE course Advances in Noninvasive Prenatal Testing For Down Syndrome and other Trisomies. Access the complete course and earn ASCLS P.A.C.E.-approved continuing education credits by subscribing online.

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American College of Obstetricians and Gynecologists (ACOG) Recommendations

In 2015 (reaffirmed 2017), ACOG’s Committee on Genetics offered these recommendations for cell-free DNA (cfDNA) screening for fetal aneuploidy. The committee's opinion in its entirety can be accessed on the ACOG website. A link to the report is at the bottom of this page.
  • A discussion of the risks, benefits, and alternatives of various methods of prenatal screening and diagnostic testing, including the option of no testing, should occur with all patients.
  • Given the performance of conventional screening methods, the limitations of cfDNA screening performance, and the limited data on cost-effectiveness in the low-risk obstetric population, conventional screening methods remain the most appropriate choice for first-line screening for most women in the general obstetric population.
  • Although any patient may choose cfDNA analysis as a screening strategy for common aneuploidies regardless of her risk status, the patient choosing this testing should understand the limitations and benefits of this screening paradigm in the context of alternative screening and diagnostic options.
  • The cfDNA test will screen for only the common trisomies and, if requested, sex chromosome composition.
  • Given the potential for inaccurate results and to understand the type of trisomy for recurrence-risk counseling, a diagnostic test should be recommended for a patient who has a positive cfDNA test result.
  • Parallel or simultaneous testing with multiple screening methodologies for aneuploidy is not cost-effective and should not be performed.
  • Management decisions, including termination of the pregnancy, should not be based on the results of the cfDNA screening alone.
  • Women whose results are not reported, indeterminate, or uninterpretable (a “no call” test result) from cfDNA screening should receive further genetic counseling and be offered comprehensive ultrasound evaluation and diagnostic testing because of an increased risk of aneuploidy.
  • Routine cfDNA screening for microdeletion syndromes should not be performed.
  • CfDNA screening is not recommended for women with multiple gestations.
  • If a fetal structural anomaly is identified on ultrasound examination, diagnostic testing should be offered rather than cfDNA screening.
  • Patients should be counseled that a negative cfDNA test result does not ensure an unaffected pregnancy.
  • CfDNA screening does not assess risk of fetal anomalies such as neural tube defects or ventral wall defects; patients who are undergoing cfDNA screening should be offered maternal serum alpha-fetoprotein screening or ultrasound evaluation for risk assessment.
  • Patients may decline all screening or diagnostic testing for aneuploidy.
Reference links:
American College of Obstetricians and Gynecologists. ACOG Committee Opinion No. 640, September 2015. Available at: http://www.acog.org/Resources-And-Publications/Committee-Opinions/Committee-on-Genetics/Cell-free-DNA-Screening-for-Fetal-Aneuploidy. Accessed March 19, 2018.
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 June 13, 2018.