Newborn screening identifies babies’ illnesses

It is said that “an ounce of prevention is worth than a pound of cure.” In the case of newborn screening, early identification leads to better outcome for the child. 

Newborn screening has been around since the 1960s in Western countries. Due to technological advances throughout the years, the screening has expanded in scope. It has been available in Việt Nam for many years, but the newborn screening centre was established in 2014.

What is newborn screening?

Newborn screening is a set of tests administered to newborn babies to identify illnesses that may cause serious medical conditions affecting growth and development if left untreated. Since the test is performed before a baby has any observable symptoms, it allows a condition to be identified and managed before a problem occurs. Newborn screening DOES NOT diagnose an illness. It will only identify children who need further confirmatory tests.

When and how is the test done?

The usual procedure involves taking a small amount of blood from the heel of a newborn within 24-48 hours of birth. The timing of the test is very important. Performing it too soon may decrease the sensitivity of the tests and doing it much later may not give accurate results.

Why is newborn screening important?

Newborn screening is important because affected babies do not show any symptoms at birth and looks “normal.” By the time a symptom appears, the baby’s development may already be impaired. Thus, newborn screening allows the conditions to be identified early. With early detection, the conditions can be treated or managed in most cases.

What are the tests in newborn screening?

Different countries have different illnesses tested under newborn screening.

In Việt Nam, the government provides free newborn tests to detect Glucose-6-phosphate dehydrogenase (G6PD) deficiency and congenital hypothyroidism. Other tests are charged.

G6PD enzyme deficiency results when the body lacks this enzyme. Babies with this condition may develop bleeding and anaemia if exposed to certain food or drugs.

Congenital hypothyroidism is a condition resulting from the lack of thyroid hormones. If left untreated, this may lead to growth failure and intellectual impairment.

In some international hospitals in Việt Nam, they offer more tests to check for more metabolic diseases. Likewise, a hearing screening is done prior to discharge. Early identification and intervention of hearing loss can prevent severe psychosocial and educational development delay, including speech delay.

There is also a Critical Congenital Heart Disease screening that is usually done within 24 hours of birth. It is a simple procedure to check the baby’s saturation (level of oxygen in the blood) with a probe. This test will determine if there is a likelihood of a critical congenital heart disease so that an early diagnosis can be made.

by Dr. Agnes R. Viay - Family Medical Practice HCMC