Pratiksha Gyawali, MBBS, MD
PRATIKSHA GYAWALI
Nominated From: University of Michigan
Research Site: Kathmandu University-Dhulikhel Hospital
Research Area: Maternal and Child Health
Primary Mentor: Shane C. Quinonez, MD
Research Project
Analytical Validation and Reference Range Determination of Dried Blood Spot Thyroid Testing: Advancing Newborn Screening in Nepal
Congenital hypothyroidism (CH) is a common and preventable cause of neurodevelopmental delay that affects ~1 in 2000 newborns worldwide. It is characterized by deficiency of thyroid hormone production at birth and in high income countries is on newborn screening panels allowing for its early diagnosis and treatment. In Nepal, which lacks a newborn screening program for CH, the estimated prevalence is 1 in 2500. Previous small pilot studies have shown the feasibility of newborn screening for CH in Nepal, though these relied on sending samples to international laboratories limiting their sustainability and causing significant delays in receiving results. Given this, there is a need to study the feasibility and implementation of an entirely Nepal-based newborn screening CH program. Dhulikhel Hospital-Kathmandu University School of Medical Sciences (DH-KUSMS) already has the equipment needed to screen for CH and has previously established newborn screening for hearing loss, making it an ideal location to initiate a CH screening program. To accomplish this, we aim to correlate dried blood spot (DBS) thyroid stimulating hormone (TSH) and free T4 values to serum values and identify Nepal-specific DBS reference ranges. This will be done by collecting 400 neonatal DBS and serum samples run simultaneously on the Abbott ARCHITECT platform. This will allow for the launch of CH DBS at DH-KUSMS and eventually throughout Nepal and for the further addition of other NBS-appropriate conditions such as sickle cell disease and thalassemia.
Research Significance
In 2024, the 77th World Health Assembly passed a resolution urging member states to consider universal newborn screening, diagnosis, and long-term care of children with congenital anomalies to accelerate progress toward reducing maternal, newborn, and child mortality. Low- and middle-income countries (LMICs) are encouraged to focus on conditions that significantly contribute to morbidity or mortality, are feasible to diagnose and manage, and provide substantial benefit if treated early.(15) Congenital hypothyroidism (CH), with a prevalence of about 1:2,500 in Nepal and reports as high as 4.5% in certain cohorts, has been identified as such a priority. Despite this, universal newborn screening remains unavailable, and previous pilot studies depended on sending DBS samples abroad, causing delays of 9–11 days that hinder timely intervention. This research directly responds to WHO’s call to action by taking necessary steps towards their resolution. By establishing locally derived reference ranges and a sustainable in-country model, this study provides the evidence base for Nepal’s first universal newborn screening program for CH and offers a scalable blueprint for other LMICs.
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