The University of Southampton
University of Southampton Institutional Repository

The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature

The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature
The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature
The clinical utility of microarray technologies when used in the context of prenatal diagnosis lies in the technology's ability to detect submicroscopic copy number changes that are associated with clinically significant outcomes. We have carried out a systematic review of the literature to calculate the utility of prenatal microarrays in the presence of a normal conventional karyotype. Amongst 12?362 cases in studies that recruited cases from all prenatal ascertainment groups, 295/12?362 (2.4%) overall were reported to have copy number changes with associated clinical significance (pCNC), 201/3090 (6.5%) when ascertained with an abnormal ultrasound, 50/5108 (1.0%) when ascertained because of increased maternal age and 44/4164 (1.1%) for all other ascertainment groups (e.g. parental anxiety and abnormal serum screening result). When additional prenatal microarray studies are included in which ascertainment was restricted to fetuses with abnormal ultrasound scans, 262/3730 (7.0%) were reported to have pCNCs.
1119-1123
Callaway, Jonathan L.A.
52ebaa48-83d6-4270-ad74-666f70264f29
Shaffer, Lisa G.
fde8d587-b68a-4913-9ac9-a77818b0fb4e
Chitty, Lyn S.
1c097cb0-0e7a-48e0-bc8f-e0bdbf67f16e
Rosenfeld, Jill A.
718bacb4-744a-4023-bb03-a3a1f8ea8d71
Crolla, John A.
c5f23751-8de9-4a55-9cc5-ca2fb635769c
Callaway, Jonathan L.A.
52ebaa48-83d6-4270-ad74-666f70264f29
Shaffer, Lisa G.
fde8d587-b68a-4913-9ac9-a77818b0fb4e
Chitty, Lyn S.
1c097cb0-0e7a-48e0-bc8f-e0bdbf67f16e
Rosenfeld, Jill A.
718bacb4-744a-4023-bb03-a3a1f8ea8d71
Crolla, John A.
c5f23751-8de9-4a55-9cc5-ca2fb635769c

Callaway, Jonathan L.A., Shaffer, Lisa G., Chitty, Lyn S., Rosenfeld, Jill A. and Crolla, John A. (2013) The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature. Prenatal Diagnosis, 33 (12), 1119-1123. (doi:10.1002/pd.4209). (PMID:23983223)

Record type: Article

Abstract

The clinical utility of microarray technologies when used in the context of prenatal diagnosis lies in the technology's ability to detect submicroscopic copy number changes that are associated with clinically significant outcomes. We have carried out a systematic review of the literature to calculate the utility of prenatal microarrays in the presence of a normal conventional karyotype. Amongst 12?362 cases in studies that recruited cases from all prenatal ascertainment groups, 295/12?362 (2.4%) overall were reported to have copy number changes with associated clinical significance (pCNC), 201/3090 (6.5%) when ascertained with an abnormal ultrasound, 50/5108 (1.0%) when ascertained because of increased maternal age and 44/4164 (1.1%) for all other ascertainment groups (e.g. parental anxiety and abnormal serum screening result). When additional prenatal microarray studies are included in which ascertainment was restricted to fetuses with abnormal ultrasound scans, 262/3730 (7.0%) were reported to have pCNCs.

Full text not available from this repository.

More information

Accepted/In Press date: 23 August 2013
e-pub ahead of print date: 8 September 2013
Published date: December 2013
Organisations: Human Development & Health

Identifiers

Local EPrints ID: 356201
URI: https://eprints.soton.ac.uk/id/eprint/356201
PURE UUID: 2834ccc3-a653-43eb-a41e-cf6db73e8d27

Catalogue record

Date deposited: 11 Sep 2013 13:08
Last modified: 16 Jul 2019 21:24

Export record

Altmetrics

Contributors

Author: Jonathan L.A. Callaway
Author: Lisa G. Shaffer
Author: Lyn S. Chitty
Author: Jill A. Rosenfeld
Author: John A. Crolla

University divisions

Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Atom RSS 1.0 RSS 2.0

Contact ePrints Soton: eprints@soton.ac.uk

ePrints Soton supports OAI 2.0 with a base URL of https://eprints.soton.ac.uk/cgi/oai2

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.

×