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] Global, regional, and national prevalence and mortality burden of sickle cell disease, 2000–2021: a systematic analysis from the Global Burden of Disease …

AM Thomson, TA McHugh, AP Oron, C Teply… - The Lancet …, 2023 - thelancet.com
Background Previous global analyses, with known underdiagnosis and single cause per
death attribution systems, provide only a small insight into the suspected high population …

Newborn screening in the developing countries

BL Therrell Jr, CD Padilla - Current Opinion in Pediatrics, 2018 - journals.lww.com
Government activities around NBS are increasing in India and there is increased emphasis
on pilot programs for sickle cell NBS in sub-Saharan Africa. Genetic counseling training in …

Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America

R Giugliani, S Castillo Taucher, S Hafez… - Frontiers in …, 2022 - frontiersin.org
Rare diseases (RDs) cause considerable death and disability in Latin America. Still, there is
no consensus on their definition across the region. Patients with RDs face a diagnostic …

Implementing newborn screening for sickle cell disease as part of immunisation programmes in Nigeria: a feasibility study

OE Nnodu, A Sopekan, U Nnebe-Agumadu… - The Lancet …, 2020 - thelancet.com
Background Sickle cell disease is highly prevalent in sub-Saharan Africa, where it accounts
for substantial morbidity and mortality. Newborn screening is paramount for early diagnosis …

Empowering newborn screening programs in African countries through establishment of an international collaborative effort

BL Therrell, MA Lloyd-Puryear… - Journal of Community …, 2020 - Springer
In an effort to explore new knowledge and to develop meaningful collaborations for
improving child health, the First Pan African Workshop on Newborn Screening was …

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 …

Regulatory landscape of providing information on newborn screening to parents across Europe

V Franková, RO Driscoll, ME Jansen… - European Journal of …, 2021 - nature.com
Newborn screening (NBS) is an important part of public healthcare systems in many
countries. The provision of information to parents about NBS is now recognised as an …

Current status of newborn screening in Southeastern Europe

V Koracin, M Mlinaric, I Baric, I Brincat… - Frontiers in …, 2021 - frontiersin.org
Significant part of Southeastern Europe (with a population of 76 million) has newborn
screening (NBS) programs non-harmonized with developed European countries. Initial …

Inborn errors of metabolism detectable by tandem mass spectrometry in Beijing

N Yang, L Gong, J Zhao, H Yang, Z Ma… - Journal of Pediatric …, 2020 - degruyter.com
Background Individual inborn errors of metabolism (IEMs) are rare disorders. Expanded
newborn screening for IEMs by tandem mass spectrometry (TMS) is an efficient approach for …