Newborn screening a boon to diagnosing genetic diseases
Every expectant parent goes through varying phases of concern and anxiety regarding their child’s health. Unfortunately, if a baby is detected with a serious disorder that could have been diagnosed and managed early by a simple blood test right after birth, it may make parents wonder if they should have talked about their options earlier.
The introduction of screening programs for newborns has, therefore, come as a welcome relief for anxious parents. The early detection of any condition in a child can help in initiating treatment as early as possible, thereby stopping the condition from worsening.
Newborn Screening (NBS) is the process that identifies potentially serious conditions even in babies who outwardly look alright. It helps in detecting several treatable conditions like disorders of hormones, metabolism, Blood disorder and many more early on, thus, offering scope for timely treatment.
Parents may worry that a large quantity of blood has to be drawn from newborns for this screening. In practice, NBS utilises advanced technology and only a few drops of blood are sufficient to screen a large number of disorders. Usually, blood is collected by heel prick and the process is safe for the baby except for slight, temporary discomfort. This test is done about 48 hours after the baby is born.
However, it is an essential part of the healthcare system in all developed and many developing countries. In India, it is not a regular feature of our health programs. Awareness amongst the general public about the availability and need of this testing option is extremely low.
Recently, the Indian Council of Medical Research (ICMR) pilot project has brought to light that many of these disorders are much more common in our country than in the rest of the world. Now, we also have world-class laboratory expertise in India.
Newborn screening detects up to 100 plus serious medical conditions, hence, proving to be a great investment for parents concerned about their child’s health and well-being. It enables early diagnosis and treatment, leading to a better quality of life.
Screening programs for newborns have come as a welcome relief for parents