Fetal renal anomalies and genetic syndromes


Wellesley, Diana and Howe, David T. (2001) Fetal renal anomalies and genetic syndromes. Prenatal diagnosis, 21, (11), 992-1003. (doi:10.1002/pd.209).

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Original Publication URL: http://dx.doi.org/10.1002/pd.209

Description/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.

Item Type: Article
Additional Information: Review Article
ISSNs: 0197-3851 (print)
Related URLs:
Keywords: renal anomalies, genetic syndromes, diagnosis, investigative tests
Subjects: R Medicine > RG Gynecology and obstetrics
Q Science > QH Natural history > QH426 Genetics
Divisions: University Structure - Pre August 2011 > School of Medicine > Human Genetics
ePrint ID: 25033
Date Deposited: 06 Apr 2006
Last Modified: 27 Mar 2014 18:14
Contact Email Address: dgw@soton.ac.uk
URI: http://eprints.soton.ac.uk/id/eprint/25033

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