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Diagnosing fetal alcohol syndrome: new insights from newer genetic technologies.
MedLine Citation:
PMID:  22798695     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
OBJECTIVE: A genetic opinion is frequently requested in the assessment of a child with suspected fetal alcohol spectrum disorders (FASD). We studied the outcome of genetic assessment of 80 children referred to a regional genetics centre between 2004 and 2010 to identify the value of the genetic assessment in cases of suspected FASD. DESIGN: Retrospective case series. PATIENTS: 80 patients, aged between 1 month and 26 years. METHODS: Data from the medical records was abstracted, entered onto a standard study pro forma, recorded in an Excel spreadsheet and analysed using simple frequency analysis. RESULTS: In 20% of cases fetal alcohol syndrome was confirmed at the genetic consultation. The most common facial features were thin upper lip (86.6%) and short palpebral fissures (82%). A lip-philtrum score of 4 or 5 was identified in two-thirds of cases. The most common alternative diagnosis was a chromosome disorder, representing 8.75% of the FASD referrals. SETTING: A regional genetics service in the North West of England. CONCLUSIONS: Genetic assessment was of particular value in excluding other diagnoses and providing information to carers. Two-thirds of the children referred were subject to a care order increasing the difficulty to obtain a family and alcohol exposure history. Classification of FASD was difficult in children under a year old when data on growth and development were limited. Structural malformations were not common in the group overall and some previously reported diagnostic signs were not found to be reliable markers of FASD. Chromosome disorders showed phenotypic overlap with FASD and are an important differential diagnosis.
Authors:
Sofia Douzgou; Catherine Breen; Yanick J Crow; Kate Chandler; Kay Metcalfe; Elizabeth Jones; Bronwyn Kerr; Jill Clayton-Smith
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-7-14
Journal Detail:
Title:  Archives of disease in childhood     Volume:  -     ISSN:  1468-2044     ISO Abbreviation:  -     Publication Date:  2012 Jul 
Date Detail:
Created Date:  2012-7-16     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0372434     Medline TA:  Arch Dis Child     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Affiliation:
Genetic Medicine and Manchester Academic Health Science Centre, University of Manchester, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
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