Neonatal Screening Program
The main objective of the Newborn Screening Programme 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 in a single dried blood spot card. The spot card is sent to the Center’s clinical laboratory for neonatal screening. In the event that a sample is indicative of 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.
The thyroid gland is responsible for producing an important hormone called thyroxine. Underactivity of the thyroid in newborns causes congenital hypothyroidism, which leads to developmental delay of the organisation. It is a condition that a baby is born with. In Cyprus, approximately 1 in every 2,000 children born is affected by congenital hypothyroidism.
It is a rare inherited metabolic disorder that a baby is born with. Our body takes proteins from food and breaks them down into smaller structural units, called amino acids. One of these is phenylalanine. In newborns with phenylketonuria, an enzyme that normally helps break down phenylalanine is either missing or not functioning properly. As a result, phenylalanine accumulates to toxic levels in the brain, and if left untreated, it can cause intellectual disability, learning difficulties, and other problems. Phenylketonuria is a rare disorder. In Cyprus, about 1 in every 15,000 children born is affected by phenylketonuria or hyperphenylalaninemia.
It is a systematic blood test for all newborns shortly after birth. It is an effective way to check the function of the thyroid gland. For this reason, 48–72 hours after birth, the pediatrician collects a blood sample from the baby’s heel and applies it onto special filter paper. The samples are then sent daily from across Cyprus to the Center for Preventive Pediatrics “Americos Argyriou” through the contracted courier service.
The clinical laboratory of the Center checks whether there are signs of congenital hypothyroidism. If there are indications, the Center notifies the pediatrician so that a repeat sample can be taken, followed by confirmatory tests if necessary.
This is also a systematic blood test for all newborns shortly after birth. It is an effective way to check for the metabolic deficiency of the amino acid phenylalanine. For this reason, 48–72 hours after birth, the pediatrician collects a blood sample from the baby’s heel and applies it onto special filter paper. The samples are sent daily from across Cyprus to the Center for Preventive Pediatrics “Americos Argyriou” through the contracted courier service. The clinical laboratory of the Center checks whether there are signs of phenylketonuria. If there are indications, the Center notifies the pediatrician so that a repeat sample can be taken, followed by confirmatory tests if necessary.
These are serious diseases with devastating effects on the development of the newborn if they are not detected and treated promptly. There are no clinical signs that would allow a doctor to recognize congenital hypothyroidism or phenylketonuria at birth. However, there are significant blood test indicators that can identify them. It is crucial to perform screening tests immediately after birth because any delay in diagnosis negatively affects the child’s development.
Congenital Hypothyroidism: Usually not. There are cases where the condition is hereditary, but most often it occurs randomly.
Phenylketonuria: Yes. If both parents are carriers of the defective gene for the enzyme that metabolizes phenylalanine, there is a 25% chance that their child will have phenylketonuria.
Congenital Hypothyroidism: The deficiency of thyroxine is replaced with prescribed thyroxine medication.
Phenylketonuria: The intake of phenylalanine, which causes toxic effects when is over accumulated in the body, is restricted. This is achieved through a special diet given to the neonate along with specific medical supplements.
Congenital Hypothyroidism: In most cases, it is lifelong. However, some children have transient hypothyroidism, in which case treatment may be stopped after a few years if thyroid function proves to be normal. Around the age of 3, the child undergoes specialized tests to determine whether the condition is permanent or temporary.
Phenylketonuria: Treatment is lifelong, but with proper guidance, it can become part of daily life, allowing the child to live normally. Throughout life, regular blood tests are needed to monitor phenylalanine levels.
The Center for Preventive Pediatrics “Americos Argyriou”, once congenital hypothyroidism is diagnosed and after the 3-year evaluation, conducts psychometric tests which are repeated at the age of 6 - 7 years old to assess both physical and cognitive development.