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Prenatal diagnosis of chromosomal imbalances

Prenatal diagnosis of chromosomal imbalances
Prenatal diagnosis of chromosomal imbalances
Prenatal array comparative genome hybridisation (aCGH) testing has by and large replaced routine karyotyping in many healthcare settings. While this will lead to more diagnoses, uncertain, unexpected or unhelpful findings are also likely to increase. This is the case for aCGH in any setting, but we discuss the particular challenges the prenatal setting generates and suggest areas that need further debate and discussion as well as some pragmatic ways forward
1359-2998
Wellesley, D.G.
17cbd6c1-0efb-4df1-ae05-64a44987c9c0
Lucassen, A.
2eb85efc-c6e8-4c3f-b963-0290f6c038a5
Wellesley, D.G.
17cbd6c1-0efb-4df1-ae05-64a44987c9c0
Lucassen, A.
2eb85efc-c6e8-4c3f-b963-0290f6c038a5

Wellesley, D.G. and Lucassen, A. (2014) Prenatal diagnosis of chromosomal imbalances. Archives of Disease in Childhood - Fetal and Neonatal Edition. (doi:10.1136/archdischild-2013-304835). (PMID:24792776)

Record type: Article

Abstract

Prenatal array comparative genome hybridisation (aCGH) testing has by and large replaced routine karyotyping in many healthcare settings. While this will lead to more diagnoses, uncertain, unexpected or unhelpful findings are also likely to increase. This is the case for aCGH in any setting, but we discuss the particular challenges the prenatal setting generates and suggest areas that need further debate and discussion as well as some pragmatic ways forward

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More information

Published date: 3 May 2014
Organisations: Cancer Sciences, Human Development & Health

Identifiers

Local EPrints ID: 364707
URI: http://eprints.soton.ac.uk/id/eprint/364707
ISSN: 1359-2998
PURE UUID: 2ca122d7-ba62-4349-bb65-2291dd62fca9
ORCID for A. Lucassen: ORCID iD orcid.org/0000-0003-3324-4338

Catalogue record

Date deposited: 09 May 2014 13:26
Last modified: 15 Mar 2024 03:11

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Contributors

Author: D.G. Wellesley
Author: A. Lucassen ORCID iD

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