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Non-invasive prenat...
Non-invasive prenatal testing for aneuploidy and beyond : challenges of responsible innovation in prenatal screening
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- Dondorp, W. (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.
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- de Wert, G. (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.
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- Bombard, Y. (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.
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- Bianchi, D. W. (författare)
- Tufts Univ, Sch Med, Dept Pediat Obstet & Gynecol, Boston, MA 02111 USA.
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- Bergmann, C. (författare)
- Ctr Human Genet Biosci, Ingelheim, Germany.;Univ Freiburg, Med Ctr, Dept Med, D-79106 Freiburg, Germany.
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- Borry, P. (författare)
- Leuven Univ, Ctr Biomed Eth & Law, Dept Publ Hlth & Primary Care, Louvain, Belgium.,Univ Ljubljana, Med Ctr, Clin Inst Med Genet, Ljubljana 61000, Slovenia.
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- Chitty, L. S. (författare)
- Great Ormond St Hosp & UCLH NHS Fdn Trusts, UCL Inst Child Hlth, Clin & Mol Genet Unit, London, England.
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- Fellmann, F. (författare)
- Univ Lausanne Hosp, Serv Med Genet, Lausanne, Switzerland.
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- Forzano, F. (författare)
- Osped Galliera, Med Genet Unit, Genoa, Italy.
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- Hall, A. (författare)
- PHG Fdn, Cambridge, England.
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- Henneman, L. (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.
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- Howard, H. C. (författare)
- Uppsala universitet,Centrum för forsknings- och bioetik
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- Lucassen, A. (författare)
- Univ Southampton, Dept Clin Eth & Law CELS, Southampton, Hants, England.;Wessex Clin Genet Serv, Southampton, Hants, England.
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- Ormond, K. (författare)
- Stanford Univ, Sch Med, Dept Genet, Stanford, CA USA.;Stanford Univ, Sch Med, Stanford Ctr Biomed Eth, Stanford, CA USA.
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Peterlin, B. (författare)
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- Radojkovic, D. (författare)
- Univ Belgrade, IMGGE, Lab Mol Biol, Belgrade, Serbia.
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- Rogowski, W. (författare)
- Helmholtz Zentrum, Deutsch Forschungszentrum Gesundheit & Umwelt, Munich, Germany.
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- 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
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- Tibben, A. (författare)
- Leiden Univ, Med Ctr, Dept Clin Genet, Leiden, Netherlands.
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- Tranebjaerg, L. (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.
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- van El, C. 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.
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- Cornel, M. 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.
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European Society of Human, Genetics (författare)
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American Society of Human, Genetics (författare)
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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)
- Springer Science and Business Media LLC, 2015
- 2015
- Engelska.
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Ingår i: Eur J Hum Genet. - : Springer Science and Business Media LLC. ; 23:11, s. 1438-1450
- Relaterad länk:
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http://www.ncbi.nlm....
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https://doi.org/10.1...
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https://uu.diva-port... (primary) (Raw object)
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https://www.nature.c...
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http://www.ncbi.nlm....
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http://dx.doi.org/10...
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https://urn.kb.se/re...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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https://lup.lub.lu.s...
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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
- NATURVETENSKAP -- Biologi -- Genetik (hsv//swe)
- NATURAL SCIENCES -- Biological Sciences -- Genetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Hälsovetenskap -- Medicinsk etik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Health Sciences -- Medical Ethics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Nyckelord
- *Aneuploidy
- Chromosome Disorders/*diagnosis/genetics
- Down Syndrome/*diagnosis/genetics
- Female
- Genetic Counseling
- Humans
- Pregnancy
- *Prenatal Diagnosis
- Trisomy/genetics
- Ultrasonography
- Prenatal
- Bioetik
- Bioethics
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
Hitta via bibliotek
Till lärosätets databas
- Av författaren/redakt...
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Dondorp, W.
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de Wert, G.
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Bombard, Y.
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Bianchi, D. W.
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Bergmann, C.
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Borry, P.
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visa fler...
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Chitty, L. S.
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Fellmann, F.
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Forzano, F.
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Hall, A.
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Henneman, L.
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Howard, H. C.
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Lucassen, A.
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Ormond, K.
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Peterlin, B.
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Radojkovic, D.
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Rogowski, W.
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Soller, Maria
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Tibben, A.
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Tranebjaerg, L.
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van El, C. G.
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Cornel, M. C.
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European Society ...
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American Society ...
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- Om ämnet
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- NATURVETENSKAP
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NATURVETENSKAP
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och Biologi
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och Genetik
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Hälsovetenskap
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och Medicinsk etik
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Medicinska och f ...
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och Medicinsk geneti ...
- Artiklar i publikationen
- Eur J Hum Genet
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European Journal ...
- Av lärosätet
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Uppsala universitet
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Lunds universitet