Newborn screening: What happens when babies are screened at birth?

Having a baby is a beautiful feeling for a parent, but you can’t deny that it comes with a lot of responsibilities. First and foremost in parenting is taking care of your child and ensuring that your baby is healthy. Enters newborn screening which is important for newborn babies. It refers to screening of newborns shortly after birth for disorders, some of which may be potentially fatal that are treatable but cannot be picked on routine examination of the baby.

Newborn screening to check for metabolic disorders is a must!

A metabolic disorder is one that gets in the way of how the body breaks down food, absorbs nutrients, or handles enzymes. Left untreated, some of these disorders could affect a baby’s development. They can cause organ damage or even death. Nearly 2.5 crore babies are born in India annually and 25,000 of these have metabolic disorders, as per the data by the Indian Council of Medical Research.

The three most common metabolic disorders in India are congenital hypothyroidism a disease in which the thyroid gland is not functional and not treating it at the right time can result in mental retardation. The other two diseases are G6PD deficiency, a disease in which the G6PD enzyme is less in the red blood cells making them more prone to breakage, and congenital adrenal hyperplasia which if untreated can result in genital abnormalities and also can be fatal in many cases.

All countries choose the set of disorders depending on the epidemiologic prevalence and resources in India.

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What is the ideal time for newborn screening?

Samples are usually collected after 72 hours and within seven days of childbirth. Blood spots are collected by heel prick. Three to five blood spots are collected and put on a filter paper card which is dried at room temperature and then sealed and sent to the laboratory for testing.

Is treatment available for the diseases diagnosed with screening?

If a child is diagnosed with any of the diseases through screening tests, there are treatments available that will reduce your child’s risk of developing any problem. For congenital hypothyroidism and congenital adrenal hyperplasia oral tablets are started and G 6PD deficiency will just require avoidance of certain drugs and foods.

Hearing screening is a must for newborn babies

Significant hearing loss affects 1-2 babies per thousand babies who are born. Hearing impairment is one of the most critical sensory impairments with significant social and psychological consequences. Failure to detect children with hearing loss may result in lifelong deficits in speech, language and poor academic performance. All newborns should undergo hearing screening to avoid complications.

All newborns should undergo hearing screening by one month of age. The most commonly used test is OAE (Oto acoustic emissions). In this test a small probe is placed in the child’s ear canal, click sounds are delivered and a response is recorded. The goal of the hearing screen is to screen all babies before one month of age to diagnose hearing loss before three months of age and start treatment before 6 months of age.

Do neonates undergo screening for congenital heart diseases?

Yes, incidences of critical congenital heart disease are 1.8 to 2 per 1000 live births. Critical congenital heart disease is the one which needs some intervention either medical or surgical and if it is not done at the right time, it can be fatal.

Do all babies need to undergo newborn screening?

All newborns should undergo the screening. This screening is done after 24 hours of life and before the discharge of the baby . To do this screening a pulse oximeter probe device which measures oxygen levels is placed on the right hand and the foot and the doctor based on the oxygen levels decides whether the baby has passed the test or failed. If a baby fails the test, the baby will further undergo echocardiography to look for the presence of heart disease. Many of the babies who are diagnosed with heart disease need urgent medical or surgical treatment.

Newborn screening is an essential tool to diagnose many diseases in babies that otherwise are extremely difficult to pick up at the right time. When picked at the correct time they can be offered the right treatment for their healthy survival. All babies should undergo metabolic screen, hearing screen, and critical congenital heart disease screen.