‘Newborn Screening’ can save thousands of newborn lives

 ‘Newborn Screening’ can save thousands of newborn lives

The program is being run with a limited budget from the Nepal government. However, service recipients coming from other hospitals can avail the service by paying the fee set by the government.

Paropakar Maternity and Gynecology Hospital has started the metabolic newborn screening service since Shravan 2081 to detect congenital diseases in newborns.

Just because a baby looks healthy at birth does not guarantee its complete health. Some serious congenital diseases can also occur. Symptoms of such problems may not be visible immediately after birth, but if not identified in time, it can seriously affect the child’s physical, mental and intellectual development. Newborn screening is an effective way to identify such diseases at an early stage and start treatment.

This service, which was started for the first time by Paropakar Maternity and Gynecology Hospital in Nepal, has so far tested thousands of newborns. Why is newborn screening necessary, which diseases can be detected through it, and what are its conditions and challenges, said Dr. Edited excerpt from a conversation with Shri Prasad Adhikari:

What is newborn screening?

Newborn screening is a test that identifies congenital diseases or problems in a child's body at an early stage immediately after birth. Although most children appear completely healthy at birth, there may be some congenital problems in the body, the symptoms of which are not immediately visible. If not detected on time, these problems can later lead to serious physical, mental and intellectual disabilities, long-term complications or even death.

For this reason, the initial test performed on every newborn baby is called newborn screening. Its purpose is not to confirm the presence of a disease, but to identify children at risk and start additional tests and treatment on time.

Under this, vision, hearing, jaundice, metabolic and genetic diseases can also be tested in Nepal.

When did this service start in Nepal?

For the first time in Nepal, Paropakar Maternity and Gynecology Hospital started the metabolic newborn screening service from Shravan 2081 BS.

This is the first program in Nepal. Although this service has been regularly operating in developed countries for many years, there was no such program in Nepal before. We have screened about 10,000 newborns in a two-year period.

Which diseases are currently being tested through this screening?

We are currently testing for seven major congenital metabolic and genetic diseases. The major diseases are as follows.

-Congenital hypothyroidism

-Congenital adrenal hyperplasia and hormonal disorders -G-6-PD enzyme deficiency

-Phenylketonuria, a congenital disease in which the body cannot properly process the amino acid phenylalanine.

-Cystic fibrosis, a congenital disease in which thick mucus forms in the body

-Biotinidase enzyme deficiency

-Another congenital metabolic disorder

There are plans to increase this number further in the future.

What happens if these diseases are not detected on time?

This is the most important thing. Many babies are born normal. But problems start to appear only after a few weeks, months, or years.

For example, children with congenital thyroid deficiency do not show any symptoms at first. Later, they may gain too much weight, have a delay in development, have a delay in speech, have a short stature, and have a decrease in physical intelligence, have a decrease in learning ability, and may have mental disabilities throughout their lives. However, if this disease is detected immediately after birth, the child can be given a completely normal life by giving simple medicines.

Why is congenital adrenal hyperplasia considered dangerous?

This is a very serious disease. Some babies experience problems such as vomiting, diarrhea, excessive crying, decreased salt content in the body, and irregular heartbeat within a week to 10 days of birth. If the disease is not detected in time, the child may even die suddenly.

Even in mild cases, long-term problems such as growth and development problems, poor intellectual ability, excessive body hair, and abnormal development of genitals in female infants are seen.

What is G-6-PD enzyme deficiency?

This is an important enzyme deficiency in the body. At birth, the baby appears normal. But later, some foods, especially some legumes, some medicines and malaria medicines, can cause bleeding, jaundice and even death. If the disease is detected at birth, the baby can be easily kept healthy by avoiding those foods and medicines.

When is this test done?

Usually, the test is started 24 hours after the baby is born. If the test is done before 24 hours, the reliability of the test is reduced. Ideally, the screening should be completed within 72 hours of birth.

How is the test done?

This is a very simple procedure. A few drops of blood are taken from the baby's heel with a small needle. That blood is placed on special filter paper. It is then tested in the laboratory. It only hurts the baby as much as a normal needle.

How long does it take to get the report?

Usually, the initial report comes within 5 to 7 days. If the report shows the possibility of any disease, the test is repeated. Then, if necessary, tests are performed for confirmation. Some tests are done in Nepal, while some genetic tests have to be sent abroad.

Are all children being screened now?

All There is no such thing. About 22,000 babies are born in our hospital every year. But due to limited resources, we are currently only able to screen about 5,000 to 6,000 babies. We have been able to test a total of 10,000 babies in two years. Our goal is to test all newborns.

Why is testing necessary for all babies?

Because no one can see these diseases from the outside when they are born. Testing cannot be done by singling out only those at risk. That is why it is called universal screening. This test should be done for every baby born.

Is the service free now?

This service is free for babies born in our hospital. The program is being run from the limited budget of the Government of Nepal. However, service recipients coming from other hospitals can avail the service by paying the fee set by the government.

What are the challenges facing running this program?

Since this was the first program in Nepal, there were many challenges. Preparing skilled manpower, setting up a laboratory, learning test methods, operating machines, and producing quality reports, everything was new. We are now successfully operating it after many trainings, re-tests and experiences.

Is this service being expanded in other hospitals as well?

Narayani Hospital in Birgunj has already started the program in collaboration with us. Preparations are also underway in places like Madhesh Pradesh and Dhangadhi. Some private hospitals have also started the service. We are providing training and technical support to them.

Why is it necessary to expand this program further in Nepal?

The neonatal mortality rate in Nepal has been stable at around 21 per thousand live births for many years. Some children also die due to congenital metabolic diseases. If newborn screening can be implemented across the country, it will make a great contribution to reducing neonatal mortality, preventing disabilities, protecting mental development, providing timely treatment, and reducing the financial burden on the family.

What is the difference between regular health check-ups and newborn screening?

A general health check-up looks at the external condition of the child. For example, whether the child is active or not, heart rate, breathing, jaundice, weight, and body condition. But newborn screening detects genetic, metabolic, hearing and vision-related congenital diseases within the body. Therefore, both tests are equally necessary.

Finally, what would you like to say to parents?

Newborn screening is a very effective life-saving program. Many diseases are not visible at birth. But if detected on time, the child's life can be completely saved with simple medicines or simple management. Therefore, all parents should get their children's newborn screening done.

The government also needs to expand this as a national program and reach all newborns. In addition, a comprehensive campaign should be conducted through the media, health institutions, schools and community levels to increase public awareness.