Document Detail

Early prenatal diagnosis of skeletal anomalies.
MedLine Citation:
PMID:  21210484     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: To review experience of early prenatal diagnosis of skeletal dysplasias, and to explore diagnostic accuracy and improve management.
METHODS: A retrospective review of fetal medicine unit (FMU) records was performed to identify cases where a skeletal dysplasia was suspected by 14 weeks' gestation. A literature review was undertaken to ascertain cases with a diagnosis of a skeletal dysplasia in the late first or early second trimester.
RESULTS: Fifteen cases were identified from review of FMU records, including ten different dysplasias with a variety of inheritance patterns. Accurate prenatal diagnosis was made only in cases with a positive family history, and in one case each of thanatophoric dysplasia and Roberts syndrome. Review of the literature identified further cases. Increased nuchal translucency was reported in other cases subsequently diagnosed as having a skeletal dysplasia. In early pregnancy, common presenting features included short femora, abnormal skull shape and mineralisation, profile or chest.
CONCLUSION: Increasing use of first-trimester combined screening for Down's syndrome, with or without detailed anomaly scanning, will result in early detection of more skeletal dysplasias. Parents must be made aware that detailed postnatal pathological and radiological examination is usually required for accurate diagnosis and prediction of recurrence risks.
Asma Khalil; Eva Pajkrt; Lyn S Chitty
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  31     ISSN:  1097-0223     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  2011 Jan 
Date Detail:
Created Date:  2011-01-06     Completed Date:  2011-04-18     Revised Date:  2011-09-26    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  England    
Other Details:
Languages:  eng     Pagination:  115-24     Citation Subset:  IM    
Copyright Information:
Copyright © 2011 John Wiley & Sons, Ltd.
University College Hospitals London NHS Foundation Trust, London, UK.
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MeSH Terms
Bone and Bones / abnormalities*,  embryology*,  ultrasonography
Craniofacial Abnormalities / ultrasonography
Ectromelia / ultrasonography
Gestational Age
Hypertelorism / ultrasonography
Musculoskeletal Abnormalities / embryology,  genetics,  ultrasonography*
Nuchal Translucency Measurement
Thanatophoric Dysplasia / ultrasonography
Ultrasonography, Prenatal*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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