The National Society of Genetic Counselors believes that all pregnant patients, regardless of aneuploidy risk, should have access to prenatal aneuploidy screening using cell-free DNA (cfDNA)*. Healthcare providers should present cfDNA screening for aneuploidy within the context of other available prenatal screening and diagnostic testing options. Included in this discussion should be the option of pursuing diagnostic testing as a first line approach or declining all screening/testing. Pretest counseling should also include a discussion of the individual patient’s values, preferences, and needs, as well as the benefits and limitations of cfDNA screening. Many factors influence cfDNA screening performance; therefore, it may not be appropriate for every clinical scenario. Additionally, some laboratories offer screening for conditions beyond common aneuploidies, so it is essential to consider the test’s positive predictive value, particularly when the prevalence of the disorder is low.
Patients who receive increased risk or inconclusive/atypical results should receive post-test genetic counseling with a knowledgeable healthcare provider, such as a genetic counselor. In such cases, confirmatory diagnostic testing may be indicated, and patients should be counseled that no irreversible actions should be taken based on the cfDNA screening alone.
*cfDNA screening is also known as Non-Invasive Prenatal Screening (NIPS) or Non-Invasive Prenatal Testing (NIPT)
(Revised April 2021; replaces 2018 version)
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