Screening Programs

Neonatal Screening Program

This program’s main objective is the early diagnosis of congenital metabolic diseases in neonates. All neonates undergo screening tests for congenital hypothyroidism and phenylketonuria (PKU) once they have fulfilled their first 48 hours of life. These metabolic diseases can lead to very severe and irreversible health problems unless the affected child is promptly placed on therapy following early diagnosis. This can only be achieved by testing the blood of all neonates born, as babies with these diseases do not necessarily present with any definitive clinical symptoms and by the time they do, irreversible damage to their nervous system may have already taken place.

Blood samples from neonates are collected by all the paediatricians in Cyprus and sent to the Center’s clinical lab for neonatal screening. In the event that a sample is indicative for any of the diseases screened for, the parents are informed by their paediatrician that further testing is necessary.

Both hypothyroid and phenylketonuric (PKU) babies can develop normally if their diagnosis is timely and their therapy is administered very early on in life. Hypothyroid babies are managed with thyroxine whereas PKU babies are placed on a special diet. Health specialists in the fields of paediatric endocrinology and clinical dietetics manage the therapy administered for each diagnosed baby, whilst a specialist psychologist assesses the child’s psychometric development.

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Information about the Neonatal Screening Program