Neonatal screening or Newborn Screening is the process of screening neonates during the first days of birth to identify inborn defects, metabolism errors and disorders, which can affect a baby’s normal growth and development. Though several disorders and errors may not be apparent during a baby’s birth, they may cause permanent mental, tactile, neurological and physical damage in the child.
When is Newborn Screening Done?
The screening test will begin within 48 hours of the birth of the baby, and until the baby is in the hospital. One or two weeks after the baby’s birth, the hospital may advise the parent to take the baby for a blood test to avoid serious irreversible health conditions. Furthermore, later than the specified time, any infant positive for any health issues will be suggested to undergo relevant screening tests at any time.
With the help of newborn screening machines, tests and instruments, early detection of any disease and prompt intervention to such disease or illness are possible. When a baby is born, newborn screen tests are done to ensure that the baby is free from any kind of disorders, which are not apparent at birth.
How Newborn Screening Is Carried Out?
Generally, the basic newborn screening tests involve the following methods:
- Blood tests
- Hearing test
- Critical Congenital Heart Disease or CCHD screening
Blood Test: The newborn screening test starts with the heel test, which is otherwise known as the blood test, to identify any disorders in newborn babies. This is the first test done in hospitals, where the baby’s heel is pricked, and blood samples are taken. They are sent to laboratories to know if any health conditions are present in the baby as they may affect the overall growth and development of the child.
The blood sample is tested to find out some of the common disorders such as:
Congenital Hypothyroidism: The blood collected from the baby’s feet is tested for congenital hypothyroidism or low thyroid activity. This condition is found in one out of every 4,000 babies, and if it is not detected and treated promptly after birth, it can lead to growth failure, mental retardation, hearing loss and neurologic abnormalities. Babies with congenital hypothyroidism can be rectified by providing thyroid hormones orally from the first week of birth and up to 4 to 7 years of age.
Phenylketonuria (PKU): Phenylalanine hydroxylase is an enzyme that is necessary to process phenylalanine, which is an amino acid in the diet. Babies with phenylketonuria lack this enzyme and therefore, cannot process phenylalanine, which accumulates in the blood causing brain damage. If dietary treatment is given in the first few weeks of the baby’s birth, you can prevent this condition.
Galactosemia: When a newborn baby lacks an enzyme called galactosemia, the baby cannot process sugar and galactose. This will result in vomiting, progressive liver issues, mental retardation, and E. coli bloodstream infection resulting in death. When detected early, the exclusion of galactose (avoiding milk and milk products) from the infant’s food will help recover from it gradually.
Sickle Cell Disease: One of the significant genetic diseases, sickle cell disease in babies should be diagnosed in the infant stage. The babies with this condition, suffer organ damage, have strokes and experience sever pain for the red blood cells become sickle-shaped and get stuck in the blood vessels. Proper treatment early in the life of the baby can prevent or reduce this problem.
The sickle cell test is also incorporated with other screen tests such as thalassemia, hemoglobin E, and other disorders in the blood.
Hearing Test: The newborn screening test involves the hearing test, which helps to know any defects or loss in the hearing system. The tests deployed to check hearing abilities are the otoacoustic emissions test and the auditory brain stem response test.
CCHD Screening: This test is done to check the possibility of critical congenital heart disease in newborns. A healthcare practitioner examines the baby with the help of an “oximeter”, which is an instrument used to measure the level of oxygen in the blood. If the oxygen level is low in the baby, then it can be of structural or behavioral defect in the heart.
When Can You Expect the Results Ready?
You get the results for the newborn screening after 10days of the test is done. The blood test results will take a week. If the baby is normal, it will be mentioned in the child’s health report. If the test shows positive for any condition, the parents will be informed and called for a discussion, and more tests are prescribed for complete analysis of the relevant condition to rule out or to confirm the disease. If any diagnosis is verified, the child will be referred to a specialist for more testing, and it is important to start treatment for any abnormalities immediately.
An effective and efficient newborn screening helps diagnose any disorders, get complete health status of the newborn and eliminate any health problems.
