A comprehensive review of orofacial cleft patients at a university hospital genetic department in the UK

Abstract

Background: Cleft lip and palate or isolated cleft palate is one of the most common congenital anomalies with a general prevalence of 1 in 700 live births. The aetiology is considered to be a combination of genetic and environmental factors. Clinical genetics service provides information, diagnosis, counselling, management and support to patients and families with genetic disorders. Materials and Methods: Data collection was carried out retrospectively from the Genetics department database. The details regarding referrals, assessment, genetic tests and outcomes were analyzed. Results: There were 33 cases from 2012 to 2016. The majority of cases (61%) were White British. Others included Caribbean, Chinese, Indian, Other Asian, and other mixed categories. 67% of patients had associated other anomalies ranging from being part of a syndrome to separate entities. 36% had family history of clefts and 24% of family members had anomalies other than cleft. Genetic analysis showed abnormality only in 4 of the cases (12%) and 2 had results of unknown significance. Conclusions: Genetic counselling should be built into the plan of cleft care in a structured manner and made available to both patients and parents. There should be a global approach to improve identification and analysis of functional elements controlling gene expression. Integration of genetics and environmental risk using epigenetics is warranted so that aetiology can be better defined and eventual outcome would be more effective clinical care and prevention.

Keywords

• chromosomal microarray
• cleft lip
• cleft palate
• genetic counseling
• genetics