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FETAL DYSMORPHOLOGY

Published online by Cambridge University Press:  27 April 2012

JILL CLAYTON-SMITH
JILL CLAYTON-SMITH*
Affiliation:
Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester NHS Foundation Trust, Oxford Road, Manchester M13 9WL
*
Jill Clayton-Smith, Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester NHS Foundation Trust, Oxford Road, Manchester M13 9WLUK. Email: Jill.clayton-smith@cmft.nhs.uk
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Extract

Congenital malformations are common, occurring in around 1 in 40 pregnancies. Analysis of data from European population-based congenital anomaly registers reported a malformation rate of 29.3 per 1000 births. Eighty percent of these were in live births whereas 17% were observed in fetuses terminated after ultrasound diagnosis of fetal abnormality. The remainder were stillborn or fetal deaths in utero. Fetal autopsy is still regarded as the gold standard procedure for identification of fetal abnormalities but assessment of the fetus by a clinical geneticist or other specialist with expertise in dysmorphology may also be informative. When coupled with other investigations which are non-invasive or involve only sampling of blood or other body fluids, examination for external malformations and dysmorphic features may complement autopsy findings or provide important information as to the causation of fetal abnormalities when autopsy is not possible. This situation is now becoming more common as rates of fetal autopsy have dropped significantly in the UK in recent years.

Type
Review Article
Information
Fetal and Maternal Medicine Review , Volume 23 , Issue 1 , February 2012 , pp. 52 - 70
Copyright
Copyright © Cambridge University Press 2012

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