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Chapter 19 - Fetal Skeletal Abnormalities

from Section 3 - Late Prenatal – Fetal Problems

Published online by Cambridge University Press:  15 November 2017

By
Lyn S. Chitty
Edited by
David James ,
Philip Steer ,
Carl Weiner ,
Bernard Gonik  and
Stephen Robson
David James
Affiliation:
University of Nottingham
Philip Steer
Affiliation:
Imperial College London
Carl Weiner
Affiliation:
University of Kansas
Bernard Gonik
Affiliation:
Wayne State University, Detroit
Stephen Robson
Affiliation:
University of Newcastle
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Summary

The sonographic detection of a fetus with skeletal abnormalities presents the clinician with challenging diagnostic dilemmas and management options, as there are around 400 known generalized skeletal dysplasias with an estimated prevalence of 2–7 in 10,000. Some can present with significant findings early in pregnancy, but some do not have obvious findings until the mid-trimester, when they may be detected on a routine fetal anomaly scan, and others present later. However, many do not present until later in postnatal life. In some instances, the lethality of the disorder is apparent and a discussion of pregnancy termination is appropriate, but the aim prenatally is to try and arrive at a definitive diagnosis in order to offer parents accurate information regarding prognosis. As this is frequently not possible, at a minimum we should aim to distinguish lethal from nonlethal, and provide some degree of differential diagnosis so that parents can make decisions regarding further pregnancy management. An aid to the prediction of lethality is the use of a femur length/abdominal circumference (FL/AC) ratio, which, if < 0.16, distinguishes lethal from nonlethal skeletal dysplasias.

Type
Chapter
Information
High-Risk Pregnancy
Management Options
 , pp. 471 - 499
Publisher: Cambridge University Press
First published in: 2017

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References

Further Reading

Chitty, LS, Altman, DG. Charts of fetal size: limb bones. BJOG 2002; 109: 919–29.Google Scholar
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Khalil, A, Pajkrt, E, Chitty, LS. Early prenatal diagnosis of skeletal anomalies. Prenat Diagn 2011; 31: 115–24.Google Scholar
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Pajkrt, E, Cicero, S, Griffin, DR, van Maarle, MC, Chitty, LS. Fetal forearm anomalies: prenatal diagnosis, associations and management strategy. Prenat Diagn 2012; 32: 1084–93.Google Scholar

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