Importance of Newborn Screening in Identifying Genetic Disorders in Nepal

In Nepal, the risk of genetic disorders, prevalent tradition of consanguineous marriages, and limited access to healthcare make newborn screening still significant. Newborn screening, although not mandatory in all hospitals in Nepal, is being provided in some government and private hospitals. Conditions such as congenital hypothyroidism, cystic fibrosis, phenylketonuria, among others, can be identified through newborn screening, allowing for early intervention. While many parents hope for a healthy, intelligent, and happy life for their child, some infants may have internal genetic disorders despite appearing healthy at birth. In some cases, these disorders may not be visible externally until weeks, months, or even years later. Early detection through newborn screening can help in initiating treatment timely and enabling children to lead normal lives. Developed countries view newborn screening as a fundamental right to a child's health, and the need for it is increasing in Nepal as well. Newborn screening is an initial test conducted on newborns to identify potential serious diseases before symptoms manifest, helping in diagnosing the condition early. The primary goal of newborn screening is not just to treat diseases after they occur but to detect them before they cause harm. This test can alert to potential serious issues that a child may or may not develop in the future. If any problem is detected in the report, further tests are conducted to confirm the disease and initiate necessary treatment. Many parents may question the necessity of newborn screening if the child appears healthy, but the challenge lies in the fact that many congenital disorders are not evident at the beginning. For example, a child born with congenital hypothyroidism may seem normal at birth but may show signs of fatigue, delayed speech, stunted growth, etc., after a few months.