Why doctors suggest going for newborn screening

For most, a pregnancy comes with a lot of hope, happiness and planning for the future, but at times, when a child is born with genetic disorders, it comes as a heavy blow to the parents. To make sure that a kid has the best quality of life, doctors suggest going for a newborn screening.

What is newborn screening?
Newborn screening is an essential tool to detect conditions that can affect a baby in the future or impact his/her quality of life. Thus, early detection, diagnosis, and intervention on time can prevent disability or death.

Neonatologist and paediatrician Dr Suresh Birajdar says that screening is a vital tool to detect any abnormalities in babies. “With a simple blood test, doctors can look for genetic conditions, heart defects, hormonal and metabolic conditions, and lung ailments that can be promptly diagnosed. Hence, the treatment can be initiated soon as these conditions will hinder the baby’s development.”

Dr Birajdar says that the test is done before a baby has any noticeable symptoms and allows a condition to be identified and treated before a problem occurs. One needs to know that newborn screening is not a diagnostic test. A follow-up testing may also be done to determine if the condition is there.

The newborn screenings that can be done are as follows

• Metabolic problems: Metabolic disorders are rare genetic disorders that are seen due to a missing or defective enzyme in the body.

• Hormone problems: Hormone problems are seen when the glands tend to make too much or not enough hormones. The hormonal problems detected in newborn screening are congenital hypothyroidism, congenital adrenal hyperplasia. So, screening is a must.

• Haemoglobin problems: Haemoglobin can be described as a protein in red blood cells that helps to supply oxygen to the entire body. Some of the haemoglobin problems are sickle cell disease, thalassemia, which is quite commonly seen in children.

• Other problems: That can become a growing matter of concern are cystic fibrosis, hearing loss, and critical congenital heart disease. So, parents need to be alert, watchful of the symptoms, and do a screening without any delay.


How is the screening done?
Once the baby is born and is still at the hospital, the screening can be done. The process involves a few drops of blood and a simple hearing test. The blood sample will be taken by pricking the baby’s heel for testing, and will be done when the baby is 1-2 days old. One needs to consult the doctor about newborn screening if your baby is not born in the hospital. The blood sample has to be taken after the first 24 hours of life.

Some babies are tested after the birth on an immediate basis as sometimes moms and newborns are discharged within a day. If this happens, experts will suggest the parents repeat the sample no more than 1 to 2 weeks later. Parents should not miss discussing newborn screening with the doctor.