Newborn Screening Tests
Motherhood is exciting yet challenging to some extent. These tests are to screen for serious treatable disease in your baby. The most common diseases screened for are genetic disorders. Your baby will most likely cry through the screening process which may be overwhelming for you but it is important that the screens are done. In most cases, the tests will be done before the baby leaves the hospital.
Newborn screening tests will vary from state to state but there are tests that are common in all states. These include:
1. Congenital hypothyroidism
Congenital hypothyroidism is a condition of low thyroid activity which affects one in every 4000 children. If left unidentified and untreated, the condition can lead to the development of mental retardation and growth failure, deafness and neurologic abnormalities. An infant who is diagnosed with congenital hypothyroidism will start receiving oral thyroid hormone in the first few weeks of life.
2. Phenylketonuria or PKU
PKU is a condition brought about by the lack of an enzyme known as phenylalanine hydroxylase which is needed in the processing of phenylalanine, an amino acid in the diet. PKU causes accumulation of phenylalanine in the bloodstream which leads to brain damage and learning disabilities.
This disease is due to the inadequacy of the enzyme necessary for handling galactose. The condition causes;
- Failure to thrive
- Progressive liver disease
- Mental retardation
The condition is usually treated by the elimination of galactose from the child’s diet which involves avoiding milk and milk products.
4. Sickle cell disease
Sickle cell is a genetic disease where a baby’s red blood cells become sickle-shaped after they give up oxygen to the tissues. The cells then become stuck in the blood vessels which results in pain and organ damage. This is why recognition of the disease soon after birth is important. Children with sickle cell are likely to develop severe infections. In addition, they experience great pain, organ damage, and strokes.
5. Maple syrup urine disease
The MSUD disease is an inherited disorder which involves the metabolism of the BCAAs (branched chain amino acids) leucine, isoleucine, and valine. This results in mental retardation and even death.
This is a genetic condition where there is a deficiency of the enzyme that converts the amino acid homocysteine to cystathionine. The condition causes:
- Mental retardation
- Eye problems
- Skeletal abnormalities
High doses of vitamin B6 or B12 can be used to prevent or mitigate these problems.
7. Biotinidase deficiency
It is a genetic disorder marked by a deficiency of the essential B vitamin, biotin. As a result, the baby can suffer from frequent infections, hearing loss, uncoordinated movements, mental retardation, and seizures.
8. Congenital adrenal hyperplasia
CAH is a genetic disorder which arises from defects in the production of adrenal hormones. In severe forms, it can cause life-threatening salt loss.
It is a genetic disorder characterized by a deficiency of an enzyme needed to convert fat into energy. At first, the child may seem normal but eventually begin to suffer from sudden seizures, respiratory failure, cardiac arrest or death.
Newborn screening tests are a must-do. They may make the difference between life and death for your child.