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As a parent, you want only the best for your child. From birth, the health of your baby can be safeguarded by many neonatal tests and screening procedures, which can offer lifesaving insights into your newborn’s health.

Starting at about a day or two after your baby is born, your doctor will carry out various tests to determine that all is well with your baby. These newborn screening tests aim to detect genetic, developmental and metabolic conditions in your baby.

The first 28 days of your newborn’s life is a critical window of opportunity for prevention and management of many newborn complications, which can otherwise prove difficult to manage or even fatal if diagnosed late. Although most babies are born healthy, the prevalence of birth defects in India is 6-7% which translates to around 1.7 million birth defects annually.

While there are many hospitals in India that offer these screening tests as a routine part of neo-natal care, it is advisable to request your doctor to carry out these tests, especially if there is a family history of certain conditions that can put your baby at risk.

Typically, newborn screening tests cover hearing, blood and heart tests. Let’s take a closer look at some of the essential screening procedures for newborns:

Hearing Tests

One of the first tests your newborn will undergo before leaving the hospital is a hearing test. These are non-invasive tests. There are two types of hearing tests that are usually carried out on your newborn:

• Auditory Brainstem Response: This test checks the auditory brain stem and the brain’s activity in response to sound. During this procedure, small earphones are placed in the baby’s ear and sounds are played. Electrodes are also placed on your baby’s head to detect the brain’s response to the sounds. It is a painless, non-invasive procedure that can be carried out while your baby is sleeping.
• Otoacoustic Emission (OAE) Test: This test is performed to determine cochlear status and hair cell function in the inner ear. The emissions are the sounds generated in the cochlea of the ear in response to auditory stimulation. There would be no emission in the case of hearing loss. During this painless procedure, a small probe is inserted into the baby’s ear that produces a series of low-volume sounds to which the cochlea responds with otoacoustic emission or “echo”. This is then analysed by the screening unit of the device. The test lasts for about 30 minutes and can be done when your baby is sleeping.

If either of the tests detects hearing loss in your baby, you may be advised to get other tests done. It is important that hearing loss be identified in babies by 3 months of age so that treatment can begin early, preferably before 6 months of age, since this is a crucial time for the development of speech and language.

Blood Screening: 

When your baby is born, a blood sample will be collected from your baby’s heel, in what is commonly known as a heel stick test. This is minimally invasive and done by using a specially designed lancet. During this test, the baby’s heel is pricked and a few drops of blood are collected onto a filter paper card to create a number of dried blood spots. This is then sent to a laboratory for analysis.

The list of conditions for which screening is carried out differs from country to country, based on the prevalence of the condition and available resources. Universal screening for about 40 to 50 metabolic disorders is mandatory in the US, Europe and many other countries across the world. In India, dried blood spot-based screenings such as the heel prick usually test for conditions such as:

• Congenital hypothyroidism. This is a common condition when the baby is born with insufficient thyroid hormone levels. Untreated, low thyroid hormone levels can lead to issues with mental development and growth.
• Glucose-6-phosphate dehydrogenase (G6PD) deficiency: Glucose-6-phosphate dehydrogenase enzyme deficiency is a genetic disorder that affects red blood cells, which carry oxygen from the lungs to tissues throughout the body. In affected children, a defect in the enzyme causes red blood cells to break down prematurely, resulting in anemia, and is also a cause of mild to severe jaundice in newborns.
• Congenital adrenal hyperplasia (CAH): It is a group of genetic conditions limiting hormone production in the adrenal glands, which sit atop our kidneys. It affects a child’s normal growth and development, particularly the genital system. Although it can be life-threatening, if hormone replacement therapy is started on time normal lives can be ensured for the baby.
• Phenylketonuria (PKU): This is a genetic disorder in which the body cannot metabolise a protein known as phenylalanine. If left untreated, this condition can cause intellectual disability.
• Galactosemia. This is a disorder in which the baby is unable to metabolise galactose (a milk sugar). Without treatment, which includes avoidance of milk, galactosemia can be life-threatening.
• Sickle cell disease. This genetic disease causes a severe form of anemia. There are different types of this disease and if left undiagnosed, it can lead to various complications such as blood clots, severe infections and stroke.
• Cystic fibrosis: Cystic fibrosis is a condition that affects the mucous glands. It causes mucous to be thick and sticky which prevents certain organs such as the lungs, liver and intestines from functioning properly. It hinders a baby’s ability to retain nutrients and grow normally. While there is no cure for cystic fibrosis, early diagnosis and treatment can help to manage the condition.

Heart Tests:

Another category of essential tests that should be carried out on newborns and infants is heart tests which detect critical congenital heart defects, also known as critical congenital heart disease (CCHD). A baby with CCHD will have low levels of oxygen in their blood and will require surgery or other medical procedures within their first year. Oftentimes, babies born with CCHD may appear healthy before the condition is detected.

Newborn Pulse Oximetry screening is a painless and non-invasive test that checks the oxygen saturation levels in the baby’s blood. It is important for newborns and infants to undergo heart screenings to detect CCHD early, so that they can receive timely treatment to prevent disability and death.

If your baby’s tests are not normal, you may be advised by your doctor to take additional diagnostic tests to determine the next steps of care. Speak with your doctor if your baby did not undergo any of these screenings and you want to understand more about these tests.

It is important to keep in mind that such routine screenings for your newborn are beneficial as they help to detect any health issues your baby may have. Therefore, allowing for prompt diagnosis, treatment, and ultimately, helping your baby to live a healthier life.