Literature DB >> 29884465

Universal newborn screening: A roadmap for action.

C P Howson1, B Cedergren2, R Giugliani3, P Huhtinen4, C D Padilla5, C S Palubiak6, M D Santos7, I V D Schwartz3, B L Therrell8, A Umemoto9, J Wang10, X Zeng11, X Zhao12, N Zhong13, E R B McCabe14.   

Abstract

Newborn screening (NBS) prevents morbidity and mortality by screening babies for selected disorders in the first days of life so that early diagnosis and treatment can be initiated. Congenital disorders impact an estimated 8 million or 6% of annual births worldwide, and of the top five that contribute 25% to the global burden of these disorders, three can be identified and managed by NBS. There are determined pockets of activity in Latin America, Sub-Saharan Africa, and the Asia Pacific region, where partnerships among government, non-governmental organizations, academia, the private sector and civil society are developing novel NBS programs that are both saving lives and preventing disability in those who survive.
Copyright © 2018 Elsevier Inc. All rights reserved.

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Year:  2018        PMID: 29884465     DOI: 10.1016/j.ymgme.2018.04.009

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN: 1096-7192            Impact factor:   4.797


  10 in total

Review 1.  Incidental Findings of Sickle Cell Trait From an Everyday Diabetes Test: Should General Health Care Providers and Testing Centers Report, Retest, or Refer?

Authors:  Anna Cronin de Chavez; Karl M Atkin; Fiona Babbington; Maria J Berghs; Simon M Dyson; Adrian Miller; Donald C Whitelaw
Journal:  Clin Diabetes       Date:  2020-01

2.  Exome/Genome-Wide Testing in Newborn Screening: A Proportionate Path Forward.

Authors:  Vasiliki Rahimzadeh; Jan M Friedman; Guido de Wert; Bartha M Knoppers
Journal:  Front Genet       Date:  2022-07-04       Impact factor: 4.772

3.  Unmet needs in PKU and the disease impact on the day-to-day lives in Brazil: Results from a survey with 228 patients and their caregivers.

Authors:  Ana Maria Martins; Andre Luiz Santos Pessoa; Andrea Amaro Quesada; Erlane Marques Ribeiro
Journal:  Mol Genet Metab Rep       Date:  2020-07-22

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

Authors:  Bradford L Therrell; Michele A Lloyd-Puryear; Kwaku Ohene-Frempong; Russell E Ware; Carmencita D Padilla; Emmanuela E Ambrose; Amina Barkat; Hassan Ghazal; Charles Kiyaga; Tisungane Mvalo; Obiageli Nnodu; Karim Ouldim; Mohamed Chérif Rahimy; Brígida Santos; Léon Tshilolo; Careema Yusuf; Guisou Zarbalian; Michael S Watson
Journal:  J Community Genet       Date:  2020-05-15

Review 5.  The Prenatal Origin of Childhood Leukemia: Potential Applications for Epidemiology and Newborn Screening.

Authors:  Erin L Marcotte; Logan G Spector; Daniela P Mendes-de-Almeida; Heather H Nelson
Journal:  Front Pediatr       Date:  2021-04-23       Impact factor: 3.418

Review 6.  A Success Story: Review of the Implementation and Achievements of the National Newborn Screening Program for Congenital Hypothyroidism in Iran.

Authors:  Shahin Yarahmadi; Nasrin Azhang; Bahram Nikkhoo; Khaled Rahmani
Journal:  Int J Endocrinol Metab       Date:  2020-04-27

7.  A consensus statement on birth defects surveillance, prevention, and care in Latin America and the Caribbean.

Authors:  Ignacio Zarante; Paula Hurtado-Villa; Salimah R Walani; Vijaya Kancherla; Jorge López Camelo; Roberto Giugliani; Boris Groisman; Christopher P Howson; Pablo Durán
Journal:  Rev Panam Salud Publica       Date:  2019-02-14

8.  Early Check: translational science at the intersection of public health and newborn screening.

Authors:  Donald B Bailey; Lisa M Gehtland; Megan A Lewis; Holly Peay; Melissa Raspa; Scott M Shone; Jennifer L Taylor; Anne C Wheeler; Michael Cotten; Nancy M P King; Cynthia M Powell; Barbara Biesecker; Christine E Bishop; Beth Lincoln Boyea; Martin Duparc; Blake A Harper; Alex R Kemper; Stacey N Lee; Rebecca Moultrie; Katherine C Okoniewski; Ryan S Paquin; Denise Pettit; Katherine Ackerman Porter; Scott J Zimmerman
Journal:  BMC Pediatr       Date:  2019-07-17       Impact factor: 2.125

9.  Transcriptomics-determined chemokine-cytokine pathway presents a common pathogenic mechanism in pregnancy loss and spontaneous preterm birth.

Authors:  Peirong Wang; Jing Pan; Xiujuan Tian; Xiaoyan Dong; Weina Ju; Yong Wang; Nanbert Zhong
Journal:  Am J Reprod Immunol       Date:  2021-02-10       Impact factor: 3.777

10.  Neonatal screening tests in Brazil: prevalence rates and regional and socioeconomic inequalities.

Authors:  Mariana B Mallmann; Yaná T Tomasi; Antonio Fernando Boing
Journal:  J Pediatr (Rio J)       Date:  2019-04-19       Impact factor: 2.990

  10 in total

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