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Review

67 Citations

28,232 Views

184 Pages

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

Bradford L. Therrell,
Carmencita D. Padilla,
Gustavo J. C. Borrajo,
Issam Khneisser,
Peter C. J. I. Schielen,
Jennifer Knight-Madden,
Helen L. Malherbe and
Marika Kase

Int. J. Neonatal Screen.2024, 10(2), 38;https://doi.org/10.3390/ijns10020038

23 May 2024

Newborn bloodspot screening (NBS) began in the early 1960s based on the work of Dr. Robert “Bob” Guthrie in Buffalo, NY, USA. His development of a screening test for phenylketonuria on blood absorbed onto a special filter paper and transp...

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Guidelines

15 Citations

12,114 Views

22 Pages

Cystic Fibrosis Newborn Screening: A Systematic Review-Driven Consensus Guideline from the United States Cystic Fibrosis Foundation

Meghan E. McGarry,
Karen S. Raraigh,
Philip Farrell,
Faith Shropshire,
Karey Padding,
Cambrey White,
M. Christine Dorley,
Steven Hicks,
Clement L. Ren and
Kathryn Tullis
+ 7 authors

Int. J. Neonatal Screen.2025, 11(2), 24;https://doi.org/10.3390/ijns11020024

2 April 2025

Newborn screening for cystic fibrosis (CF) has been universal in the US since 2010; however, there is significant variation among newborn screening algorithms. Systematic reviews were used to develop seven recommendations for newborn screening progra...

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Article

5 Citations

10,229 Views

15 Pages

Newborn Screening Knowledge, Attitudes and Practices among Obstetrics-Gynecology Residents, Pediatric Residents, and Newborn Screening Nurses in a Tertiary Government Hospital in the Philippines during the COVID-19 Pandemic

Patrick Jose D. Padilla and
Eileen M. Manalo

Int. J. Neonatal Screen.2023, 9(2), 19;https://doi.org/10.3390/ijns9020019

1 April 2023

Newborn Screening (NBS) saves babies from mental retardation and death. In the Philippines, it was formally established by law in 2004. Program success requires physicians, nurses, and midwives to educate and motivate parents. The COVID-19 pandemic r...

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Conference Report

8 Citations

9,811 Views

151 Pages

2023 APHL/ISNS Newborn Screening Symposium

Richard S. Olney,
James R. Bonham,
Peter C. J. I. Schielen,
Dara Slavin and
Jelili Ojodu

Int. J. Neonatal Screen.2023, 9(4), 54;https://doi.org/10.3390/ijns9040054

9 October 2023

Introduction and Abstracts of the 2023 APHL/ISNS Newborn Screening Symposium in Sacramento, CA, USA from 15–19 October 2023.

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Systematic Review

15 Citations

8,952 Views

14 Pages

Wilson and Jungner Revisited: Are Screening Criteria Fit for the 21st Century?

Elena Schnabel-Besson,
Ulrike Mütze,
Nicola Dikow,
Friederike Hörster,
Marina A. Morath,
Karla Alex,
Heiko Brennenstuhl,
Sascha Settegast,
Jürgen G. Okun and
Christian P. Schaaf
+ 2 authors

Int. J. Neonatal Screen.2024, 10(3), 62;https://doi.org/10.3390/ijns10030062

13 September 2024

Driven by technological innovations, newborn screening (NBS) panels have been expanded and the development of genomic NBS pilot programs is rapidly progressing. Decisions on disease selection for NBS are still based on the Wilson and Jungner (WJ) cri...

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Review

29 Citations

8,632 Views

14 Pages

Current State and Innovations in Newborn Screening: Continuing to Do Good and Avoid Harm

Giancarlo la Marca,
Rachel. S. Carling,
Stuart. J. Moat,
Raquel Yahyaoui,
Enzo Ranieri,
James. R. Bonham and
Peter. C. J. I. Schielen

Int. J. Neonatal Screen.2023, 9(1), 15;https://doi.org/10.3390/ijns9010015

17 March 2023

In 1963, Robert Guthrie’s pioneering work developing a bacterial inhibition assay to measure phenylalanine in dried blood spots, provided the means for whole-population screening to detect phenylketonuria in the USA. In the following decades, N...

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Article

10 Citations

7,106 Views

11 Pages

Vitamin B12 Deficiency (Un-)Detected Using Newborn Screening in Norway

Trine Tangeraas,
Ulf W. Ljungblad,
Elma Lutvica,
Erle Kristensen,
Alex D. Rowe,
Anne-Lise Bjørke-Monsen,
Terje Rootwelt-Revheim,
Ingjerd Sæves and
Rolf D. Pettersen

Int. J. Neonatal Screen.2023, 9(1), 3;https://doi.org/10.3390/ijns9010003

5 January 2023

Untreated vitamin B12 (B12) deficiency may cause delayed development in infants. Several newborn screening (NBS) programs have reported an increased detection rate of B12 deficiency when second-tier dried blood spot (DBS) analyses of total homocystei...

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Article

4 Citations

6,668 Views

9 Pages

Newborn Screening Long-Term Follow-Up Clinics (Continuity Clinics) in the Philippines during the COVID-19 Pandemic: Continuing Quality Patient Care

Ebner Bon G. Maceda,
Michelle E. Abadingo,
Karen Asuncion R. Panol,
Frederick David E. Beltran,
Ivy Rose C. Valdez-Acosta,
Grandelee D. Taquiqui,
Sharon B. Gawigawen,
Maria Victoria L. Macalino,
Laura Maria Soledad M. Aguirre-Aguinaldo and
Marive A. Flores-Declaro
+ 9 authors

Int. J. Neonatal Screen.2023, 9(1), 2;https://doi.org/10.3390/ijns9010002

29 December 2022

The COVID-19 pandemic has challenged healthcare systems worldwide. In the Philippines, long-term care for patients with conditions identified through newborn screening (NBS) is coordinated through Newborn Screening Continuity Clinics (NBSCCs). These...

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Systematic Review

19 Citations

6,565 Views

33 Pages

Systematic Review of Newborn Screening Programmes for Spinal Muscular Atrophy

Katy Cooper,
Gamze Nalbant,
Anthea Sutton,
Sue Harnan,
Praveen Thokala,
Jim Chilcott,
Alisdair McNeill and
Alice Bessey

Int. J. Neonatal Screen.2024, 10(3), 49;https://doi.org/10.3390/ijns10030049

15 July 2024

Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder causing the degeneration of motor neurons in the spinal cord. Recent studies suggest greater effectiveness of treatment in the presymptomatic stage. This systematic review synthesises...

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Conference Report

4 Citations

5,731 Views

37 Pages

Consolidated Newborn Bloodspot Screening Efforts in Developing Countries in the Asia Pacific—2024

Bradford L. Therrell,
Carmencita D. Padilla,
Michelle E. Abadingo,
Shree Prasad Adhikari,
Thuza Aung,
Thet Thet Aye,
Sanjoy Kumer Dey,
Muhammad Faizi,
Erdenetuya Ganbaatar and
Tran Thi Huong Giang
+ 10 authors

Int. J. Neonatal Screen.2025, 11(1), 2;https://doi.org/10.3390/ijns11010002

30 December 2024

Approximately half of all births globally occur in the Asia Pacific Region. Concerted efforts to support local activities aimed at developing national newborn screening (NBS) have been ongoing for almost 30 years, first by the International Atomic En...

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