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Fetal renal anomalies and genetic syndromes

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

Record type: Article


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.

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Published date: 2001
Additional Information: Review Article
Keywords: renal anomalies, genetic syndromes, diagnosis, investigative tests


Local EPrints ID: 25033
ISSN: 0197-3851
PURE UUID: 4e2648d0-90d4-45ca-a07f-997e53c000de

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Date deposited: 06 Apr 2006
Last modified: 17 Jul 2017 16:12

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Author: Diana Wellesley
Author: David T. Howe

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