Purpose of Review
In 2011, screening platforms became available in the US that detect and analyze fragments of cell-free placental DNA (cfDNA) in maternal blood serum. Marketed as noninvasive prenatal tests (NIPT), cfDNA screening is more accurate than previously available serum screening tests for certain aneuploidies. The combination of a noninvasive procedure, high specificity and sensitivity, and lower false positive rates for some aneuploidies (most notably Down’s syndrome) has led to broad clinician and patient adoption. New ethical, legal, and social issues arise from the increased use and expanded implementation of cfDNA in pregnancy.
Recently, several professional associations have amended their guidelines on cfDNA, removing language recommending its use in only “high-risk” pregnancies in favor of making cfDNA screening an available option for women with “low-risk” pregnancies as well. At the same time, commercial cfDNA screening laboratories continue to expand the range of available test panels. As a result, the future of prenatal screening will likely include a broader range of genetic tests in a wider range of patients.
This article addresses the ethical, legal, and social issues related to the shift in guidance and expanded use of cfDNA in pregnant women, including concerns regarding routinized testing, an unmet and increasing demand for genetic counseling services, social and economic disparities in access, impact on groups living with disabling conditions, and provider liability.
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These currently include the NIPT/Cell Free DNA Predictive Value Calculator, from the Perinatal Quality Foundation and the National Society of Genetic Counselors (NSGC) and endorsed by the American Congress of Obstetricians and Gynecologists (ACOG) (https://www.perinatalquality.org/Vendors/NSGC/NIPT/); an Abnormal Prenatal Cell-free DNA Screening Results fact sheet from NSGC, endorsed by ACOG (http://nsgc.org/page/abnormal-non-invasive-prenatal-testing-results), and a cfDNA Policy “Cliff’s Notes” chart by the Genetic Support Foundation (https://www.geneticsupportfoundation.org/providers/cfdna-for-providers).
Papers of particular interest, published recently, have been highlighted as: • Of importance
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This paper was funded in part by the National Institutes of Health (Grant R00HG006452: Michie).
Conflict of Interest
The authors each declare that they have no conflict of interest.
Human and Animal Rights and Informed Consent
This article does not contain any studies with human or animal subjects performed by any of the authors.
This article is part of the Topical Collection on Ethics in Genetic Medicine
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Parham, L., Michie, M. & Allyse, M. Expanding Use of cfDNA Screening in Pregnancy: Current and Emerging Ethical, Legal, and Social Issues. Curr Genet Med Rep 5, 44–53 (2017). https://doi.org/10.1007/s40142-017-0113-x
- Prenatal screening
- Legal issues
- Social issues