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PRENATAL DIAGNOSIS OF SKELETAL DYSPLASIAS

Part of: Bespoke shallow archive Weizmann

Published online by Cambridge University Press:  01 May 2008

LYN S CHITTY  and
DAVID GRIFFIN
LYN S CHITTY
Affiliation:
Reader in Genetics and Fetal Medicine, Institute of Child Health and UCLH, London.
DAVID GRIFFIN
Affiliation:
Consultant Obstetrician, Watford District General Hospital, Hertfordshire
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Extract

Skeletal anomalies occur with a frequency of around 1:500 and can present a diagnostic challenge when detected prenatally. Increasingly more sophisticated imaging such as MRI or CT may elucidate features more easily interpreted by postnatal radiologists. The aetiology of these anomalies is varied and includes aneuploidy, genetic syndromes, skeletal dysplasias, teratogens, disruption and maternal disease, making a multidisciplinary approach to the diagnosis essential. The estimated prevalence of skeletal dysplasias varies from 2–3/10,000 to 4–7/10,000 and diagnosis may require biochemical, cytogenetic, molecular genetic or haematological investigation. Clinical genetic input is often required as the family history or parental examination may yield valuable clues to the diagnosis. This review will briefly describe the normal embryology and sonographic appearances of fetal limb development and go on to suggest a systematic approach to the diagnosis of fetal skeletal dysplasias.

Type
Research Article
Information
Fetal and Maternal Medicine Review , Volume 19 , Issue 2 , May 2008 , pp. 135 - 164
Copyright
Copyright © Cambridge University Press 2008

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