A newborn undergoes a series of tests to ensure that all is well. The screening involves tests to identify certain conditions even before the baby exhibits typical symptoms.
When Monalisa Das, a 29-year-old software engineer from Bhubaneswar delivered her baby boy in March 2023, she was super joyous. But when her baby was taken for multiple tests, a sense of fear overcame her. “All was well and I was told that the baby had no health problems. That was one sentence I was waiting to hear,” Das tells Happiest Health.
Newborn screening tests are customary and there should be no reason for parents to fear them, say experts.
“All the tests should be done within 24-48 hours of birth or before discharge from the hospital,” says Dr Megha Consul, principal consultant pediatrician at Max Hospital, Gurugram. She adds that if any disorder is noticed within this window period, early intervention is possible.
Importance of newborn screening tests
Dr Harini Sreedharan, consultant neonatologist and paediatrician, Narayana Hospital, Bengaluru, says that newborn screening can identify problems at an early stage, and this can save lives and improve the quality of life of the babies. “Early detection of conditions like congenital hypothyroidism, heart or eye issues can help in treating them early.”
According to Dr Pranav Gupta, consultant pediatrician, Doctor Uncle Clinic, Delhi, parents must take newborn screening seriously as it can help in the early detection of health issues if there are any.
Series of newborn screening tests
Neonatologists explain the nature of the tests that are done soon after childbirth:
Hearing screening
The otoacoustic emission (OAE) test is to check the hearing ability of a newborn. “In this simple test, a soft and small earpiece is put inside the baby’s ears. It’s just a five-minute test,” says Dr Consul. The echoes are recorded in the automated test that confirms the hearing ability.
If the test confirms a problem, then it is followed by brainstem evoked response audiometry (BERA), an electrophysiological test to assess the response in the brain wave following auditory stimuli. “In case a baby is born with a hearing challenge, then early intervention such hearing aids or cochlear implantations (surgical implantation of an electronic device to improve hearing) are suggested,” says Dr Sreedharan.
Cardiac screening
The heart condition of a baby can be checked by measuring the oxygen saturation level in the blood (SPO2). “Pulse oximetry tests of the two atrium chambers and two ventricle chambers of the heart are important to check the oxygen saturation in the blood,” says Dr Consul. According to the Indian Academy of Pediatrics, a saturation level of less than 95 per cent indicates the need for intervention in newborns. “The SPO2 gives an idea of potential heart issues,” adds Dr Consul.
In case of any suspicion in the pulse oximetry, an echocardiogram, a type of imaging of the heart which shows the size, shape and blood flow will be done for getting a better understanding.
Eye screening
According to the American Academy of Paediatrics, a test called red reflex examination is done for newborns to examine vision-related issues in the cornea and lens. This test includes projecting lights into both eyes; the red reflex should be visible in both pupils.
“Vision-related problems could result from late detection,” says Dr Gupta.
A congenital cataract is a condition in which a baby’s vision gets hindered due to the clouding of the eye lens, and this can also be picked up through the red reflex test.
Tests to detect genetic and hormonal issues
“Genetic, metabolic or hormonal health conditions can be detected early by a simple blood test and this can help in early intervention,” says Dr Consul. The blood test should be done within 24-48 hours after the birth. A small amount of blood sample is taken by pricking the infant’s heel.
Health conditions that can be picked up through newborn screening
Dr Sadhna Sha, consultant pediatrician, Neotia Bhagirathi Women and Child Care Centre, Kolkata, throws more light on the seven most important health conditions that can be detected through newborn screening tests.
Phenyl ketonuria
An inherited disorder that causes elevated levels of amino acid in the body and can cause neurological issues, if left untreated.
Congenital hypothyroidism
A condition with less production of thyroid hormone and affects a child’s development.
G6pd deficiency
An inherited condition that occurs due to the lack of enough glucose-6-phosphate dehydrogenase enzyme, which helps the red blood cells in functioning and keeping them healthy.
Dr Sreedharan points out that the early breakdown of red blood cells in G6PD deficiency can cause neonatal jaundice in which the liver fails to process the excess breakdown of red blood cells, thus resulting in excess bilirubin (a by-product of broken red blood cells) build-up in the blood.
Cystic fibrosis
A genetic disorder that causes the build-up of thick mucus in the lungs and the digestive system, resulting in digestion and breathing problems.
Galactosemia
The body fails to convert galactose or milk sugar to glucose or a simple form of sugar in this inherited disorder.
Biotinidase deficiency
An inherited disorder in which the body fails to recycle vitamin biotin which can cause seizures and muscle weakness.
Congenital adrenal hyperplasia
A genetic disorder that affects the production of important hormones from the adrenal glands (the glands responsible for producing hormones that control many bodily functions such as metabolism and blood pressure) which may lead to serious complications like cardiac arrest.
Takeaways
Newborn screening tests are done to determine the baby’s health. All the tests should be done within 24-48 hours after birth or before leaving the hospital. This helps in early detection and intervention.
