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Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening

on behalf of the European Society of Human Genetics (ESHG) and the American Society of Human Genetics (ASHG), Wybo Dondorp, Guido de Wert, Yvonne Bombard, Diana W. Bianchi, Carsten Bergmann, Pascal Borry, Lyn S. Chitty, Florence Fellmann, Francesca Forzano, Alison Hall, Lidewij Henneman, Heidi Howard, Anneke Lucassen, Kelly E. Ormond, Borut Peterlin, Dragica Radojković, Wolf Rogowski, Maria Soller, Aad Tibben, Lisbeth Tranebjærg, Carla van El, Martina C. Cornel · 2015 · European Journal of Human Genetics

Summary. This position document from European and American genetics societies provides recommendations for responsible innovation in prenatal screening using non-invasive prenatal testing (NIPT). The authors argue that while NIPT improves accuracy and safety for detecting common chromosomal abnormalities, expanding screening scope requires rigorous validation and ethical evaluation. They call for governments to regulate prenatal screening as public health programs, ensuring quality counseling, professional education, and equitable access rather than allowing commercial expansion without oversight.

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(ASHG), O. B. O. T. E. S. O. H. G. (. A. T. A. S. O. H. G., Dondorp, W., Wert, G. D., Bombard, Y., Bianchi, D. W., Bergmann, C., Borry, P., Chitty, L. S., Fellmann, F., Forzano, F., Hall, A., Henneman, L., Howard, H., Lucassen, A., Ormond, K. E., Peterlin, B., Radojković, D., Rogowski, W., Soller, M., . . . Cornel, M. C.. (2015). Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. European Journal of Human Genetics. https://doi.org/10.1038/ejhg.2015.57

Details

DOI
10.1038/ejhg.2015.57
Countries
United States, European Union
Regions
North America
Categories
policy, innovation-theory, general-innovation
Added
2026-04-28