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Gekas J, Langlois S, Ravitsky V, et al. Non-invasive prenatal testing for fetal chromosome abnormalities: review of clinical and ethical issues. Appl Clin Genet. 2016;9:15-26doi: 10.2147/TACG.S85361.
Gekas, J., Langlois, S., Ravitsky, V., Audibert, F., van den Berg, D. G., Haidar, H., & Rousseau, F. (2016). Non-invasive prenatal testing for fetal chromosome abnormalities: review of clinical and ethical issues. The application of clinical genetics, 915-26. https://doi.org/10.2147/TACG.S85361
Gekas, Jean, et al. "Non-invasive prenatal testing for fetal chromosome abnormalities: review of clinical and ethical issues." The application of clinical genetics vol. 9 (2016): 15-26. doi: https://doi.org/10.2147/TACG.S85361
Gekas J, Langlois S, Ravitsky V, Audibert F, van den Berg DG, Haidar H, Rousseau F. Non-invasive prenatal testing for fetal chromosome abnormalities: review of clinical and ethical issues. Appl Clin Genet. 2016 Feb 04;9:15-26. doi: 10.2147/TACG.S85361. eCollection 2016. PMID: 26893576; PMCID: PMC4745955.
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Appl Clin Genet. 2016 Feb 04;9:15-26. doi: 10.2147/TACG.S85361. eCollection 2016.

Non-invasive prenatal testing for fetal chromosome abnormalities: review of clinical and ethical issues.

The application of clinical genetics

Jean Gekas, Sylvie Langlois, Vardit Ravitsky, François Audibert, David Gradus van den Berg, Hazar Haidar, François Rousseau

Affiliations

  1. Prenatal Diagnosis Unit, Department of Medical Genetics and Pediatrics, Faculty of Medicine, Université Laval, Québec City, QC, Canada; Department of Medical Biology, CHU de Québec, Québec City, QC, Canada.
  2. Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
  3. Bioethics Program, Department of Social and Preventive Medicine, School of Public Health, University of Montreal, Montreal, QC, Canada.
  4. Department of Obstetrics and Gynecology, Hospital Sainte-Justine, Montreal, QC, Canada.
  5. Department of Social and Preventive Medicine, Faculty of Medicine, Université Laval, Québec City, QC, Canada.
  6. Department of Medical Biology, CHU de Québec, Québec City, QC, Canada; Department of Molecular Biology, Medical Biochemistry and Pathology, Faculty of Medicine, Université Laval, Québec City, QC, Canada.

PMID: 26893576 PMCID: PMC4745955 DOI: 10.2147/TACG.S85361

Abstract

Genomics-based non-invasive prenatal screening using cell-free DNA (cfDNA screening) was proposed to reduce the number of invasive procedures in current prenatal diagnosis for fetal aneuploidies. We review here the clinical and ethical issues of cfDNA screening. To date, it is not clear how cfDNA screening is going to impact the performances of clinical prenatal diagnosis and how it could be incorporated in real life. The direct marketing to users may have facilitated the early introduction of cfDNA screening into clinical practice despite limited evidence-based independent research data supporting this rapid shift. There is a need to address the most important ethical, legal, and social issues before its implementation in a mass setting. Its introduction might worsen current tendencies to neglect the reproductive autonomy of pregnant women.

Keywords: Down syndrome; cell-free fetal DNA; informed consent; non-invasive prenatal testing; prenatal diagnosis; reproductive autonomy

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