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Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening
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2015 (English)In: Eur J Hum Genet, Vol. 23, no 11, p. 1438-50Article in journal (Refereed) Published
Abstract [en]

This paper contains a joint ESHG/ASHG position document with recommendations regarding responsible innovation in prenatal screening with non-invasive prenatal testing (NIPT). By virtue of its greater accuracy and safety with respect to prenatal screening for common autosomal aneuploidies, NIPT has the potential of helping the practice better achieve its aim of facilitating autonomous reproductive choices, provided that balanced pretest information and non-directive counseling are available as part of the screening offer. Depending on the health-care setting, different scenarios for NIPT-based screening for common autosomal aneuploidies are possible. The trade-offs involved in these scenarios should be assessed in light of the aim of screening, the balance of benefits and burdens for pregnant women and their partners and considerations of cost-effectiveness and justice. With improving screening technologies and decreasing costs of sequencing and analysis, it will become possible in the near future to significantly expand the scope of prenatal screening beyond common autosomal aneuploidies. Commercial providers have already begun expanding their tests to include sex-chromosomal abnormalities and microdeletions. However, multiple false positives may undermine the main achievement of NIPT in the context of prenatal screening: the significant reduction of the invasive testing rate. This document argues for a cautious expansion of the scope of prenatal screening to serious congenital and childhood disorders, only following sound validation studies and a comprehensive evaluation of all relevant aspects. A further core message of this document is that in countries where prenatal screening is offered as a public health programme, governments and public health authorities should adopt an active role to ensure the responsible innovation of prenatal screening on the basis of ethical principles. Crucial elements are the quality of the screening process as a whole (including non-laboratory aspects such as information and counseling), education of professionals, systematic evaluation of all aspects of prenatal screening, development of better evaluation tools in the light of the aim of the practice, accountability to all stakeholders including children born from screened pregnancies and persons living with the conditions targeted in prenatal screening and promotion of equity of access.

Place, publisher, year, edition, pages
2015. Vol. 23, no 11, p. 1438-50
Keywords [en]
*Aneuploidy, Chromosome Disorders/*diagnosis/genetics, Down Syndrome/*diagnosis/genetics, Female, Genetic Counseling, Humans, Pregnancy, *Prenatal Diagnosis, Trisomy/genetics, Ultrasonography, Prenatal
National Category
Medical and Health Sciences
Research subject
Bioethics
Identifiers
URN: urn:nbn:se:uu:diva-342718ISBN: 1476-5438 (Electronic) 1018-4813 (Linking) OAI: oai:DiVA.org:uu-342718DiVA, id: diva2:1186583
Note

Dondorp, Wybo de Wert, Guido Bombard, Yvonne Bianchi, Diana W Bergmann, Carsten Borry, Pascal Chitty, Lyn S Fellmann, Florence Forzano, Francesca Hall, Alison Henneman, Lidewij Howard, Heidi C Lucassen, Anneke Ormond, Kelly Peterlin, Borut Radojkovic, Dragica Rogowski, Wolf Soller, Maria Tibben, Aad Tranebjaerg, Lisbeth van El, Carla G Cornel, Martina C eng RP-PG-0707-10107/Department of Health/United Kingdom Research Support, Non-U.S. Gov't England 2015/03/19 06:00 Eur J Hum Genet. 2015 Nov;23(11):1438-50. doi: 10.1038/ejhg.2015.57. Epub 2015 Mar 18.

Available from: 2018-02-28 Created: 2018-02-28 Last updated: 2018-02-28

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