Congenital Hypothyroidism: A 2020–2021 Consensus guidelines update—An ENDO-European reference network initiative endorsed by the European Society for …

P Van Trotsenburg, A Stoupa, J Léger, T Rohrer… - Thyroid, 2021 - liebertpub.com
Background: An ENDO-European Reference Network (ERN) initiative was launched that
was endorsed by the European Society for Pediatric Endocrinology and the European …

Current status of newborn screening worldwide: 2015

BL Therrell, CD Padilla, JG Loeber, I Kneisser… - Seminars in …, 2015 - Elsevier
Newborn screening describes various tests that can occur during the first few hours or days
of a newborn's life and have the potential for preventing severe health problems, including …

[HTML][HTML] White paper: pathways to progress in newborn screening for sickle cell disease in sub-Saharan Africa

L Hsu, OE Nnodu, BJ Brown, F Tluway… - Journal of tropical …, 2018 - ncbi.nlm.nih.gov
Abstract Sickle Cell Disease (SCD) is among the most common single-gene diseases in the
world but evidence-based comprehensive health care has not been implemented where the …

[HTML][HTML] Worldwide recall rate in newborn screening programs for congenital hypothyroidism

L Mehran, D Khalili, S Yarahmadi… - … of endocrinology and …, 2017 - ncbi.nlm.nih.gov
Methods Publications reporting the results of the CH screening program from 1997 to 2016
focusing on the recall rate have been searched. Results Recall rates vary from 0.01% to …

Sustainability of newborn screening for sickle cell disease in resource-poor countries: A systematic review

CO Okeke, C Okeke, S Asala, AOD Ofakunrin, S Ufelle… - Plos one, 2024 - journals.plos.org
Sickle cell disease (SCD) is a worldwide genetic blood disorder. Roughly 400,000 babies
are born with SCD each year worldwide. More than 75% of these births occur in sub …

Need and challenges in establishing newborn screening programs for inherited metabolic disorders in developing countries

M Wasim, HN Khan, H Ayesha, FR Awan - Advanced Biology, 2023 - Wiley Online Library
Even in this post genomic era, no national level newborn screening (NBS) programs for
inborn errors of metabolism (IEMs) are yet available in several developing countries …

Experiences and challenges with congenital hypothyroidism newborn screening in Indonesia: A national cross-sectional survey

AB Pulungan, HA Puteri, M Faizi, PL Hofman… - International Journal of …, 2024 - mdpi.com
The expansion of newborn screening (NBS) for congenital hypothyroidism (CH) is essential
to reducing the number of preventable intellectual disabilities in children. Because of …

Family, community, and health system considerations for reducing the burden of pediatric sickle cell disease in Uganda through newborn screening

NS Green, S Mathur, S Kiguli, J Makani… - Global pediatric …, 2016 - journals.sagepub.com
Sickle cell disease (SCD) is associated with high mortality for children under 5 years of age
in sub-Saharan Africa. Newborn sickle screening program and enhanced capacity for SCD …

Biochemical screening of intellectually disabled patients: a stepping stone to initiate a newborn screening program in Pakistan

M Wasim, HN Khan, H Ayesha, SMI Goorden… - Frontiers in …, 2019 - frontiersin.org
Inborn errors of metabolism (IEMs) are rare group of genetic disorders comprising of more
than 1,000 different types. Around 200 of IEMs are potentially treatable through diet …

[HTML][HTML] Cost-effective analysis of the congenital hypothyroidism screening program in Sri Lanka

N Karunarathna, M Hettiarachchi - Value in Health Regional Issues, 2021 - Elsevier
Introduction Economic evaluations will determine policy decisions on any screening
programs as estimates of short-term or long-term clinical and economic outcomes are …