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      Universal Implementation of Newborn Screening in India

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          Abstract

          Newborn screening is a successful program in many developed countries. In India, the benefits of dried blood spot screening have been recognized and that screening is slowly gaining traction. There are significant issues standing in the way of universal implementation of a newborn screening program in India: awareness, cost, advocacy, public policy, and politics. Three regional screening programs, Chandigarh, Goa, and Kerala could serve as models for other programs in India. The data for this commentary were based on personal experiences from managing public newborn screening programs, searches on PubMed and Google, and personal interactions with experts in the field. The overwhelming recommendation is to universally screen for congenital hypothyroidism in India, because it is easy and inexpensive to treat, with excellent outcomes. It would also be beneficial to consider screening universally for glucose-6-phosphate dehydrogenase deficiency due to its high incidence and ease of treatment. Finally, sickle cell disease should be screened in those areas in India where it is prevalent due to the costs associated with universal screening. Achieving universal screening is a challenge, and it is very difficult to predict when every baby born in India will be screened for at least congenital hypothyroidism.

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          Most cited references19

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          National, regional, and state-level all-cause and cause-specific under-5 mortality in India in 2000–15: a systematic analysis with implications for the Sustainable Development Goals

          Summary Background India had the largest number of under-5 deaths of all countries in 2015, with substantial subnational disparities. We estimated national and subnational all-cause and cause-specific mortality among children younger than 5 years annually in 2000–15 in India to understand progress made and to consider implications for achieving the Sustainable Development Goal (SDG) child survival targets. Methods We used a multicause model to estimate cause-specific mortality proportions in neonates and children aged 1–59 months at the state level, with causes of death grouped into pneumonia, diarrhoea, meningitis, injury, measles, congenital abnormalities, preterm birth complications, intrapartum-related events, and other causes. AIDS and malaria were estimated separately. The model was based on verbal autopsy studies representing more than 100 000 neonatal deaths globally and 16 962 deaths among children aged 1–59 months at the subnational level in India. By applying these proportions to all-cause deaths by state, we estimated cause-specific numbers of deaths and mortality rates at the state, regional, and national levels. Findings In 2015, there were 25·121 million livebirths in India and 1·201 million under-5 deaths (under-5 mortality rate 47·81 per 1000 livebirths). 0·696 million (57·9%) of these deaths occurred in neonates. There were disparities in child mortality across states (from 9·7 deaths [Goa] to 73·1 deaths [Assam] per 1000 livebirths) and regions (from 29·7 deaths [the south] to 63·8 deaths [the northeast] per 1000 livebirths). Overall, the leading causes of under-5 deaths were preterm birth complications (0·330 million [95% uncertainty range 0·279–0·367]; 27·5% of under-5 deaths), pneumonia (0·191 million [0·168–0·219]; 15·9%), and intrapartum-related events (0·139 million [0·116–0·165]; 11·6%), with cause-of-death distributions varying across states and regions. In states with very high under-5 mortality, infectious-disease-related causes (pneumonia and diarrhoea) were among the three leading causes, whereas the three leading causes were all non-communicable in states with very low mortality. Most states had a slower decline in neonatal mortality than in mortality among children aged 1–59 months. Ten major states must accelerate progress to achieve the SDG under-5 mortality target, while 17 are not on track to meet the neonatal mortality target. Interpretation Efforts to reduce vaccine-preventable deaths and to reduce geographical disparities should continue to maintain progress achieved in 2000–15. Enhanced policies and programmes are needed to accelerate mortality reduction in high-burden states and among neonates to achieve the SDG child survival targets in India by 2030. Funding Bill & Melinda Gates Foundation.
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            Newborn Screening for Congenital Hypothyroidism and Congenital Adrenal Hyperplasia.

            (2018)
            The Task Force formed by ICMR aimed at studying the prevalence of congenital hypothyroidism and congenital adrenal hyperplasia, the template disorders included in all newborn screening programs, and to evaluate the unidentified challenges in its execution in health care services. It also intended to evaluate the feasibility of newborn screening with regards to different geo-ethnic regions from India.
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              Current and future perspective of newborn screening: an Indian scenario.

              Newborn screening comprises a paramount public health program seeking timely detection, diagnosis, and intervention for genetic disorders that may otherwise produce serious clinical consequences. Today newborn screening is part of the health care system of developed countries, whereas in India, newborn screening is still in the toddler stage.
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                Author and article information

                Journal
                Int J Neonatal Screen
                Int J Neonatal Screen
                IJNS
                International Journal of Neonatal Screening
                MDPI
                2409-515X
                25 March 2020
                June 2020
                : 6
                : 2
                : 24
                Affiliations
                NeoGen Labs, UCF Center, 84/3 Oil Mill Road, Lingararajpuram, Bengaluru 560 084, Karnataka, India; mookken@ 123456neogenlabs.com
                Article
                IJNS-06-00024
                10.3390/ijns6020024
                7422990
                33073021
                ac15f0b3-b201-4da8-84af-475134c49413
                © 2020 by the author.

                Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license ( http://creativecommons.org/licenses/by/4.0/).

                History
                : 24 January 2020
                : 24 March 2020
                Categories
                Commentary

                inborn errors of metabolism,neonatal,newborn screening,population screening,sickle cell disease

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