Newborn screening, or NBS, is a simple procedure that establishes if a newborn has any congenital metabolic conditions that could lead to physical and mental retardation or could prove fatal if undetectedor untreated. This procedure, to be effective, should be done between 24 and 72 hours of birth. Few drops of blood is drawn from the heel of babies, collected on a special absorbent filter paper and sent for testing. If the tests come out positive, then the baby has to be tested again for confirmation and medical management.
There are close to million babies born every single year; although most of them are born healthy, a small fraction of these babies are born with rare and serious medical conditions that can be managed. Even though most of these conditions are genetic in nature, some of them do not have a family history. The screening tests are not diagnostic in nature but help doctors determine if the babies need further confirmatory tests and to define medical management accurately.
It is estimated that 1 in 2000 Indian newborns suffer at birth from some kind of metabolic disorder. The World ratio for the same category is 1 in 3600.
The Importance of Newborn Screening
Although newborn screening tests babies for conditions that are rare, the tests help detect the conditions early and make treatment easier.
- There are close to 31 core conditions that are screened during NBS. Most of these conditions affect babies’ intellectual, physical and mental abilities drastically. Some of these can also result in death if they are not identified and treated at the earliest.
- Newborn screening is most effective in trying to identify children with life-altering conditions. Although most of the babies tested come out with negative results, about 1% of the screened babies can show positive for certain medical conditions. An estimated 303 000 newborns die within 4 weeks of birth every year, worldwide, due to congenital anomalies.
- Newborn screening is important even if the parents do not have a family history for any of the said conditions, or even if the pregnancy was a healthy one.
- Newborn screening can identify these conditions before they become apparent or prove fatal, thereby helping both parents and children lead a normal life.
- Newborn screening is mostly only a one-time cost which can provide clarity and peace of mind to parents.
Lack of immediate treatment and management can lead to expensive hospital stays, further medical tests and also intensive care.
- Even if the newborn is tested positive for any of the conditions, there are a number of treatments that help children cope with the disorders and lead normal lives. For conditions such as phenylketonuria (PKU) in which babies are unable to process phenylketonuria, a simple change in the diet of babies can make a lot of difference. Since phenylketonuria can be found mostly in certain sweeteners, protein-rich foods, the buildup of it can affect brain functioning and also cause irreversible brain damage. Babies with PKU are usually put on a special diet at the earliest.
- Medicines are needed for other conditions such as hypothyroidism where babies are unable to produce enough thyroid hormone in their bodies which if untreated can slow down growth drastically.
- Screening also makes sure that babies with critical conditions are quickly identified and treated. Babies with sickle cell anemia can easily get infected. These babies should be given penicillin every day to reduce their risk of getting harmful infections.
- Although some babies with congenital heart conditions might appear completely normal at birth, they require emergency care if their condition is not recognized immediately after birth.
Almost all the babies look perfectly healthy at birth, even those babies with serious metabolic disorders. That is why it is extremely important for babies to be screened during the newborn period before the onset of symptoms of irreversible conditions.