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

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening
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.
1018-4813
1438-1450
Dondorp, Wybo
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de Wert, Guido
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Bombard, Yvonne
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Bianchi, Diana W
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Bergmann, Carsten
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Borry, Pascal
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Chitty, Lyn S
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Fellmann, Florence
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Forzano, Francesca
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Hall, Alison
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Henneman, Lidewij
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Howard, Heidi C
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Lucassen, Anneke
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Ormond, Kelly
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Peterlin, Borut
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Radojkovic, Dragica
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Rogowski, Wolf
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Soller, Maria
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Tibben, Aad
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Tranebjærg, Lisbeth
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van El, Carla G
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Cornel, Martina C
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Dondorp, Wybo
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de Wert, Guido
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Bombard, Yvonne
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Bianchi, Diana W
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Bergmann, Carsten
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Borry, Pascal
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Chitty, Lyn S
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Fellmann, Florence
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Forzano, Francesca
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Hall, Alison
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Henneman, Lidewij
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Howard, Heidi C
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Lucassen, Anneke
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Ormond, Kelly
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Peterlin, Borut
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Radojkovic, Dragica
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Rogowski, Wolf
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Soller, Maria
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Tibben, Aad
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Tranebjærg, Lisbeth
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van El, Carla G
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Cornel, Martina C
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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, Tranebjærg, Lisbeth, van El, Carla G and Cornel, Martina C (2015) Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. European Journal of Human Genetics, 23, 1438-1450. (doi:10.1038/ejhg.2015.57). (PMID:25782669)

Record type: Article

Abstract

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.

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Accepted/In Press date: 19 February 2015
e-pub ahead of print date: 18 March 2015
Published date: 18 March 2015
Organisations: Faculty of Medicine

Identifiers

Local EPrints ID: 375408
URI: http://eprints.soton.ac.uk/id/eprint/375408
ISSN: 1018-4813
PURE UUID: a1d863db-0c4c-413e-af31-f348fd19175f
ORCID for Anneke Lucassen: ORCID iD orcid.org/0000-0003-3324-4338

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Date deposited: 23 Mar 2015 11:57
Last modified: 18 Feb 2021 16:58

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Contributors

Author: Wybo Dondorp
Author: Guido de Wert
Author: Yvonne Bombard
Author: Diana W Bianchi
Author: Carsten Bergmann
Author: Pascal Borry
Author: Lyn S Chitty
Author: Florence Fellmann
Author: Francesca Forzano
Author: Alison Hall
Author: Lidewij Henneman
Author: Heidi C Howard
Author: Anneke Lucassen ORCID iD
Author: Kelly Ormond
Author: Borut Peterlin
Author: Dragica Radojkovic
Author: Wolf Rogowski
Author: Maria Soller
Author: Aad Tibben
Author: Lisbeth Tranebjærg
Author: Carla G van El
Author: Martina C Cornel

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