| Summary: | <p>Although it is well established that children with orofacial clefts (OCs) are often born with associated anomalies in addition to their cleft, the reported prevalence of associated anomalies varies widely between existing studies, ranging from 3% to 63%. Furthermore, details on the nature of these additional anomalies remain scant. With better antenatal diagnosis of OCs, accurate information is needed to aid parental counselling. Such data is also valuable in determining service provision, especially as few studies describe the incidence of such conditions in developed, multicultural societies such as the United Kingdom (UK). The aim of this study was to characterise children with OCs and to determine the frequency of associated anomalies in OCs within a geographically defined area within the UK.</p> <p>Medical records of children with OCs born in Oxfordshire, Berkshire and Buckinghamshire between January 1995 and July 2012 were reviewed. Information was collected on socio-demographic and cleft characteristics, birth and family history, and associated anomalies. Information was cross-referenced with data from the regional birth registry.</p> <p>A total of 791 infants were identified with OCs, giving a mean birth prevalence of 1.44 cases per 1,000 live births in Oxfordshire, Berkshire and Buckinghamshire over the duration of this study. There was a slight male predominance but no seasonal trends. Approximately 34% of infants with clefts had an associated anomaly, most frequently affecting the skeletal system and extremities, cardiovascular and central nervous systems. Associated anomalies were associated with non-live births, premature birth, low birth weight, cleft palate subtype, chromosomal defects and non-chromosomal syndromes.</p> <p>It appears that the burden of care of multiple anomalies in children with OCs for families, carers and service providers has been widely underestimated. There is a need for a thorough investigation of infants born with a cleft, as anomalies occurred in approximately 1 in 3; and each child with a cleft should be examined with particular attention to the skeletal system and extremities, cardiovascular and central nervous systems. A significant proportion of those with additional anomalies had underlying chromosomal defects and non- chromosomal syndromes. There is also a provisionally unique group of children with OCs and additional anomalies without a unifying cause. This is a potential pool of patients with an undiscovered or undescribed genetic defect or syndrome. The findings from this study supports early genetic counselling and testing in all infants with OCs and associated anomalies.</p>
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