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

Dondorp, Wybo (författare)
Maastricht Univ, Res Sch CAPHRI, Dept Hlth Eth & Soc, NL-6200 MD Maastricht, Netherlands.;Maastricht Univ, Res Sch GROW, Dept Hlth Eth & Soc, NL-6200 MD Maastricht, Netherlands.
de Wert, Guido (författare)
Maastricht Univ, Res Sch CAPHRI, Dept Hlth Eth & Soc, NL-6200 MD Maastricht, Netherlands.;Maastricht Univ, Res Sch GROW, Dept Hlth Eth & Soc, NL-6200 MD Maastricht, Netherlands.
Bombard, Yvonne (författare)
Univ Toronto, Fac Med, Li Ka Shing Knowledge Inst, St Michaels Hosp, Toronto, ON, Canada.;Univ Toronto, Fac Med, Inst Hlth Policy Management & Evaluat, Toronto, ON, Canada.
visa fler...
Bianchi, Diana W. (författare)
Tufts Univ, Sch Med, Dept Pediat Obstet & Gynecol, Boston, MA 02111 USA.
Bergmann, Carsten (författare)
Ctr Human Genet Biosci, Ingelheim, Germany.;Univ Freiburg, Med Ctr, Dept Med, D-79106 Freiburg, Germany.
Borry, Pascal (författare)
Leuven Univ, Ctr Biomed Eth & Law, Dept Publ Hlth & Primary Care, Louvain, Belgium.
Chitty, Lyn S. (författare)
Great Ormond St Hosp & UCLH NHS Fdn Trusts, UCL Inst Child Hlth, Clin & Mol Genet Unit, London, England.
Fellmann, Florence (författare)
Univ Lausanne Hosp, Serv Med Genet, Lausanne, Switzerland.
Forzano, Francesca (författare)
Osped Galliera, Med Genet Unit, Genoa, Italy.
Hall, Alison (författare)
PHG Fdn, Cambridge, England.
Henneman, Lidewij (författare)
Vrije Univ Amsterdam Med Ctr, Sect Community Genet, Dept Clin Genet, Amsterdam, Netherlands.;Vrije Univ Amsterdam Med Ctr, EMGO Inst Hlth & Care Res, Amsterdam, Netherlands.
Howard, Heidi C. (författare)
Uppsala universitet,Centrum för forsknings- och bioetik
Lucassen, Anneke (författare)
Univ Southampton, Dept Clin Eth & Law CELS, Southampton, Hants, England.;Wessex Clin Genet Serv, Southampton, Hants, England.
Ormond, Kelly (författare)
Stanford Univ, Sch Med, Dept Genet, Stanford, CA USA.;Stanford Univ, Sch Med, Stanford Ctr Biomed Eth, Stanford, CA USA.
Peterlin, Borut (författare)
Univ Ljubljana, Med Ctr, Clin Inst Med Genet, Ljubljana 61000, Slovenia.
Radojkovic, Dragica (författare)
Univ Belgrade, IMGGE, Lab Mol Biol, Belgrade, Serbia.
Rogowski, Wolf (författare)
Helmholtz Zentrum, Deutsch Forschungszentrum Gesundheit & Umwelt, Munich, Germany.
Soller, Maria (författare)
Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine
Tibben, Aad (författare)
Leiden Univ, Med Ctr, Dept Clin Genet, Leiden, Netherlands.
Tranebjaerg, Lisbeth (författare)
Bispebjerg Hosp, Rigshosp, Dept Audiol, Copenhagen, Denmark.;Univ Copenhagen, Kennedy Ctr, Dept Clin Genet, Copenhagen, Denmark.;Univ Copenhagen, ICMM, Inst Cellular & Mol Med, Copenhagen, Denmark.
van El, Carla G. (författare)
Vrije Univ Amsterdam Med Ctr, Sect Community Genet, Dept Clin Genet, Amsterdam, Netherlands.;Vrije Univ Amsterdam Med Ctr, EMGO Inst Hlth & Care Res, Amsterdam, Netherlands.
Cornel, Martina C. (författare)
Vrije Univ Amsterdam Med Ctr, Sect Community Genet, Dept Clin Genet, Amsterdam, Netherlands.;Vrije Univ Amsterdam Med Ctr, EMGO Inst Hlth & Care Res, Amsterdam, Netherlands.
Tranebjærg, Lisbeth (författare)
Cornel, Martina C (författare)
Chitty, Lyn S (författare)
van El, Carla G (författare)
Bianchi, Diana W (författare)
Howard, Heidi C (författare)
visa färre...
Maastricht Univ, Res Sch CAPHRI, Dept Hlth Eth & Soc, NL-6200 MD Maastricht, Netherlands;Maastricht Univ, Res Sch GROW, Dept Hlth Eth & Soc, NL-6200 MD Maastricht, Netherlands. Univ Toronto, Fac Med, Li Ka Shing Knowledge Inst, St Michaels Hosp, Toronto, ON, Canada.;Univ Toronto, Fac Med, Inst Hlth Policy Management & Evaluat, Toronto, ON, Canada. (creator_code:org_t)
Nature Publishing Group, 2015
2015
Engelska.
Ingår i: European Journal of Human Genetics. - : Nature Publishing Group. - 1018-4813 .- 1476-5438. ; 23:11, s. 1438-1450
  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
Stäng  
  • 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.

Ämnesord

NATURAL SCIENCES  -- Biological Sciences -- Genetics (hsv//eng)
NATURVETENSKAP  -- Biologiska vetenskaper -- Genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Health Sciences -- Medical Ethics (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Hälsovetenskaper -- Medicinsk etik (hsv//swe)
NATURVETENSKAP  -- Biologi (hsv//swe)
MEDICIN OCH HÄLSOVETENSKAP  -- Hälsovetenskaper (hsv//swe)
NATURAL SCIENCES  -- Biological Sciences (hsv//eng)
MEDICAL AND HEALTH SCIENCES  -- Health Sciences (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine (hsv//eng)

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