<p>​​Every parent wants the best for their children from the moment they are born. But what if there were hidden health conditions that could affect their lives, and parents didn&#39;t even know about them? This is where newborn screening (NBS) comes in. It&#39;s a crucial health service that can detect serious but manageable medical conditions in babies, even before symptoms appear. In Pakistan, where newborn screening is not yet widely practiced, raising awareness about its life-saving potential is essential.
</p><p>Pakistan has one of the highest neonatal mortality rates in the world and has been ranked by UNICEF as one of the most dangerous countries for newborns. While significant progress has been made in reducing infant mortality, there is still a pressing need to improve early detection and prevention of life-threatening conditions. Newborn screening plays a vital role in this effort.</p><p>Newborn screening is a simple and painless procedure that typically takes place within 24 to 72 hours of birth. A small blood sample is usually collected from a heel prick to test for a variety of conditions, including genetic, metabolic, haematological, and hormonal disorders. If left untreated, these conditions can lead to severe mental and physical disabilities or even death. Fortunately, early detection often allows for effective management, allowing children to live healthy, normal lives. </p><p>It&#39;s important to understand that newborn screening is designed for healthy-appearing newborns and does not replace the need to diagnose children who already show symptoms of illness.</p><p>In Pakistan, many newborns leave the hospital without any screening, missing a critical opportunity to detect serious but hidden health problems. This is often due to a combination of factors, such as lack of awareness, limited resources, and the absence of a national newborn screening program. </p><p>Parents should know that newborn screening can prevent avoidable suffering. It should be a routine part of postnatal care, and families should request it, even if it&#39;s not offered. Additionally, the government and healthcare institutions must take active steps to expand newborn screening services across the country. This includes developing the necessary infrastructure to track babies with positive screening results for any disorders. </p><p>Newborn screening is just the first step. If a screening test is positive, it must be followed by further diagnostic tests and appropriate treatment. Early diagnosis and treatment can greatly reduce the severity of symptoms and improve the overall quality of life for affected children. Healthcare professionals should be trained, and diagnostic facilities and treatment options should be widely available for all disorders included in the newborn screening program.</p><p>At Aga Khan University Hospital, we have taken a proactive approach by offering screening for 14 disorders. We carefully select conditions for screening that are common, manageable, and for which diagnostic and treatment facilities are available. </p><p>Newborn screening is more than just a medical test—it&#39;s an opportunity for a healthier future. By detecting and addressing conditions early, we can help ensure that our children get the best possible start in life. In Pakistan, making newborn screening a national practice could save thousands of lives and give families the peace of mind they deserve.
</p><p><em>Author: Dr Bushra Afroze, Associate Professor, Paediatrics and Child Health, The Aga Khan University Hospital </em></p><p>Note: This article has also been published on <a href="https://www.nation.com.pk/02-Oct-2024/why-pakistan-urgently-needs-newborn-screening">The Nation</a>. 
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