Neonatal screening is essential for detecting potential disorders in newborn babies. This process involves a series of tests within the first few days of a baby’s life to check for common genetic, metabolic, and developmental disorders.
Early detection through neonatal blood screening programs can provide a prompt diagnosis and treatment plan, preventing the onset of serious health complications associated with these types of disorders. Such testing can also ensure the long-term well-being of the child that is being screened.
However, neonatal screening programs can also help to detect rare and more complex health disorders that can often prove more challenging to treat. So, what types of disorders can neonatal screening help to diagnose?
One of the most common disorders that neonatal screening can detect is phenylketonuria (PKU). PKU is a genetic disorder that causes a buildup of the amino acid phenylalanine in the body, leading to learning disabilities and behavioural problems.
Other serious health issues, such as frequent vomiting and the development of epilepsy, can also occur if phenylketonuria is left untreated.
Infants diagnosed with this condition are immediately placed on a low-protein diet, but amino acid supplements must be taken to ensure they do not miss out on vital nutrients.
Another disorder that neonatal screening can detect is congenital adrenal hyperplasia. This inherited condition occurs when the adrenal glands do not produce enough cortisol and aldosterone, causing a variety of health issues, including electrolyte imbalances and abnormal sexual development.
Treatment is usually under the care of endocrinologists who monitor levels of cortisol and aldosterone. Replacement therapy with both hormones is the main course of treatment for this condition. Regular blood testing can help doctors maintain the correct levels of both hormones in a child’s blood, as this treatment must be maintained for life.
Neonatal screening can also help to detect congenital hypothyroidism. This condition occurs when a baby is born with an underactive thyroid gland, leading to a deficiency in thyroid hormone production.
Without treatment, congenital hypothyroidism can result in developmental delays, stunted growth, and other health issues.
However, with early detection, affected infants can receive thyroid hormone replacement therapy to prevent these complications and ensure healthy development.
Additionally, neonatal screening can detect cystic fibrosis, a genetic disorder affecting the lungs and digestive system. Without early intervention, cystic fibrosis can lead to respiratory infections, digestive problems, and other complications related to sticky mucus buildup in the lungs and digestive system.
However, with early detection through neonatal screening, affected infants can receive specialised care and treatments to manage their condition and improve their overall quality of life through the use of medications and airway clearance techniques.
Neonatal screening can also help to detect galactosemia. This metabolic disorder impairs the body’s ability to process galactose. Galactose is a sugar present in milk and other dairy products. Without proper management, galactosemia can lead to liver damage, developmental delays, and other health complications.
However, with early intervention, affected infants can receive dietary modifications and other treatments to prevent these complications and ensure overall healthy development.
Furthermore, neonatal screening can also detect biotinidase deficiency, a rare metabolic disorder that affects the body’s ability to process biotin, a B-complex vitamin.
Without appropriate treatment, biotinidase deficiency can lead to seizures, developmental delays, and other health issues. However, affected infants can receive biotin supplementation and other interventions to manage their condition and prevent the onset of these complications.
Maple syrup urine disease (MSUD) is a serious but rare inherited disorder that causes a harmful build-up of substances in the blood and urine. This is caused by the body’s inability to process certain amino acids.
Again, this condition can be diagnosed with blood spot testing, which is part of neonatal screening programs. Babies with MSUD have sweet-smelling urine, which gives this condition its name.
Other characteristics of this disorder that lead to serious symptoms are the fact that infants with MSUD cannot break down the amino acids leucine, isoleucine, and valine.
Without urgent treatment, this can lead to the risk of developing brain damage, developmental delay, seizures, and even falling into a coma. A low-protein diet and medication are the main treatments available that help to ease the symptoms of this condition. As with many of the disorders mentioned here, treatment is often lifelong.