Fetal renal anomalies and genetic syndromes
Fetal renal anomalies and genetic syndromes
Renal abnormalities are some of the commonest and most easily detectable anomalies on ultrasound. Many are an isolated finding but the prognosis may be altered considerably by the detection of other anomalies which could indicate a genetic disorder or syndrome. It is often easier to detect presupposed anomalies and the purpose of this article is to introduce and discuss those syndromes that may present with a renal abnormality on ultrasound. Common renal findings are presented with the range of additional anomalies that should be sought and suggested diagnostic tests. It should be remembered that although for many genetic conditions specific mutation analysis is now available, this usually requires pre-pregnancy investigations. Furthermore, in some cases the definitive diagnosis may not be suspected until post mortem. By this time it may be too late to establish a cell line to confirm the suspicion using laboratory methods. It is therefore important to take tissue samples antenatally where possible, or at delivery, as postnatal samples may have a high culture failure rate.
renal anomalies, genetic syndromes, diagnosis, investigative tests
992-1003
Wellesley, Diana
17cbd6c1-0efb-4df1-ae05-64a44987c9c0
Howe, David T.
2aff7e22-c75f-4d98-b8af-fe3e1a3d2dcb
2001
Wellesley, Diana
17cbd6c1-0efb-4df1-ae05-64a44987c9c0
Howe, David T.
2aff7e22-c75f-4d98-b8af-fe3e1a3d2dcb
Wellesley, Diana and Howe, David T.
(2001)
Fetal renal anomalies and genetic syndromes.
Prenatal Diagnosis, 21 (11), .
(doi:10.1002/pd.209).
Abstract
Renal abnormalities are some of the commonest and most easily detectable anomalies on ultrasound. Many are an isolated finding but the prognosis may be altered considerably by the detection of other anomalies which could indicate a genetic disorder or syndrome. It is often easier to detect presupposed anomalies and the purpose of this article is to introduce and discuss those syndromes that may present with a renal abnormality on ultrasound. Common renal findings are presented with the range of additional anomalies that should be sought and suggested diagnostic tests. It should be remembered that although for many genetic conditions specific mutation analysis is now available, this usually requires pre-pregnancy investigations. Furthermore, in some cases the definitive diagnosis may not be suspected until post mortem. By this time it may be too late to establish a cell line to confirm the suspicion using laboratory methods. It is therefore important to take tissue samples antenatally where possible, or at delivery, as postnatal samples may have a high culture failure rate.
This record has no associated files available for download.
More information
Published date: 2001
Additional Information:
Review Article
Keywords:
renal anomalies, genetic syndromes, diagnosis, investigative tests
Identifiers
Local EPrints ID: 25033
URI: http://eprints.soton.ac.uk/id/eprint/25033
ISSN: 0197-3851
PURE UUID: 4e2648d0-90d4-45ca-a07f-997e53c000de
Catalogue record
Date deposited: 06 Apr 2006
Last modified: 15 Mar 2024 06:59
Export record
Altmetrics
Contributors
Author:
Diana Wellesley
Author:
David T. Howe
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