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Controversies in prenatal diagnosis 3: should everyone undergoing invasive testing have a microarray?

Controversies in prenatal diagnosis 3: should everyone undergoing invasive testing have a microarray?
Controversies in prenatal diagnosis 3: should everyone undergoing invasive testing have a microarray?
Chromosomal microarrays (CMA) are routinely used in postnatal genetic diagnosis.
CMA is technically applicable in prenatal diagnosis.
Pros and cons of routine use are discussed; technical aspects and dseign of array, yield, interpretation of CNV and variances of unknown significance (VOUS), quality control regimens.
18-22
Crolla, John A.
c5f23751-8de9-4a55-9cc5-ca2fb635769c
Wapner, Ronald
37cf61bc-857e-4ae2-b2b8-62e07c14d1ab
Van Lith, Jan M.M.
d6f9df89-d46a-4dc6-8848-229b0063b038
Crolla, John A.
c5f23751-8de9-4a55-9cc5-ca2fb635769c
Wapner, Ronald
37cf61bc-857e-4ae2-b2b8-62e07c14d1ab
Van Lith, Jan M.M.
d6f9df89-d46a-4dc6-8848-229b0063b038

Crolla, John A., Wapner, Ronald and Van Lith, Jan M.M. (2014) Controversies in prenatal diagnosis 3: should everyone undergoing invasive testing have a microarray? Prenatal Diagnosis, 34 (1), 18-22. (doi:10.1002/pd.4287). (PMID:24302430)

Record type: Article

Abstract

Chromosomal microarrays (CMA) are routinely used in postnatal genetic diagnosis.
CMA is technically applicable in prenatal diagnosis.
Pros and cons of routine use are discussed; technical aspects and dseign of array, yield, interpretation of CNV and variances of unknown significance (VOUS), quality control regimens.

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More information

e-pub ahead of print date: 2 December 2013
Published date: January 2014
Related URLs:
Organisations: Human Development & Health

Identifiers

Local EPrints ID: 360412
URI: http://eprints.soton.ac.uk/id/eprint/360412
DOI: doi:10.1002/pd.4287
PURE UUID: 3e61f478-f3de-47c3-a7bc-766d11da657e

Catalogue record

Date deposited: 06 Dec 2013 14:29
Last modified: 14 Mar 2024 15:37

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Contributors

Author: John A. Crolla
Author: Ronald Wapner
Author: Jan M.M. Van Lith

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