Five Essential Newborn Screening Tests

The newborn screening tests are done the recognizing serious treatable disease. The test for the babies is done well before the baby leaves the hospital and helps to know the disease and disorders that are genetic. Some of the most common tests include congenital hypothyroidism, phenylketonuria, etc. 

The Most Common Screening Tests 

  1. Congenital Hypothyroidism: This type of disease is quite common among babies, and one out of four thousand babies are known to be diagnosed with it. If the disease is not timely identified, it may lead to mental retardation, deafness, growth failure, or neurologic abnormalities. This should be treated promptly after being identified at birth.
  2. Phenylketonuria (PKU) – An enzyme called phenylalanine hydroxylase is found to lack the babies having PKU, which is an amino acid used in the diet. Due to the lack of these enzymes, phenylalanine accumulates in the bloodstream, which may be a reason for brain damage. A baby having symptoms of PKU is given a diet plan or treatment in the first few weeks, which can prevent them from the consequences that the disease causes and life can be saved from this damage.
  3. Galactosemia – There is an enzyme that handles the sugar level in the body, and the lack of it is the reason that this disease is found in babies. According to every top children’s hospital in Hyderabad, the inability causes several problems like vomiting, failure to thrive, cataracts, mental retardation, progressive liver disease, and many more. This elimination is possible by keeping milk and milk products away from the child’s diet. This will create an improvement, and the chances of disease will also decrease.
  4. Sickle Cell Disease – In this type of disease, the red blood cells become sickle-shaped after oxygen is supplied to the tissues. These shaped cells can get stuck into the blood vessels, and then it may cause pain and damage to the organs. It is better if the disease is identified soon after the birth otherwise, it may cause several severe infections like organ damage, pain in the body, strokes, etc. if appropriate treatment is given on time, then the chances of the disease can be reduced. 
  5. Homocystinuria: In the homocystinuria genetic disorder, due to enzyme deficiency, conversion of an amino acid (homocysteine) into cystathionine does not take place. As a result, the newborn suffers from an array of problems such as skeletal abnormalities, eye problems, mental retardation and stroke. Proper intake of Vitamin B12 or Vitamin B6 can prevent this problem.


The newborn screening tests are done on the small babies to find out the presence of metabolic, genetic, developmental, hormonal, or blood-related disorders that develop after the birth of the child. Adequate information can give way to corrective diagnosis and several preventive measures can be taken. The above guide on the different types of newborn screening tests will help the specialists identify the root cause and treatment can be given accordingly. Thus, to save the life and improve the health of the child proper diagnosis should be made. Any further query and complications can be dealt personally with the specialists.


Written by namita mody