Neonatal testing is often referred to as new-born screening. It is the testing of new-borns for several disorders. While hearing and heart screening are also examined, more commonly, tests are used to determine specific rare diseases.
The tool most utilised for this last category is a simple blood test. It is made possible through equipment available from companies such as Trinity Biotech. A small sample of blood is drawn from the heel of the infant. It is then analysed to see whether certain health problems are present.
What Diseases Does the Blood Test Look For?
Doctors and other medical professionals use the blood tests to see if the new-born have certain rare genetic, hormone-related (endocrine) and/or metabolic conditions. The most common ones for which a new-born is tested are:
• Phenylketonuria (PKU
• Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
• Homocystinuria (HCU)
• Maple syrup urine disease (MSUD)
• Glutaric aciduria type 1 (GA1)
• Isovaleric acidaemia (IVA).
• Congenital hypothyroidism (CHT)
• Sickle cell disease (SCD)
• Cystic fibrosis (CF)
Testing occurs when the infant is from five to eight days old. Another test is recommended when the child turns one to two weeks old.
Why Perform Neonatal Testing?
Neonatal testing has become common in many countries around the world. The screening of infants at such an early age provides parents and doctors with a means to discover whether the infant has presented any serious genetic issues. By being forewarned, it is possible to reduce and/or manage many of the future problems resulting from such disorders. These can include acute developmental issues such as mental disability or even death. Comas are always a potential risk to children suffering from some of these health problems.
The detection of rare health issues using blood tests is one more tool the medical profession has to help parents know the potential for medical problems. Early discovery allows parents and doctors to collaborate on an approach that allows the child to grow up and lead a normal and even healthy life.
