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IJNS
Special Issues
History, Present and Future of Neonatal Screening
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History, Present and Future of Neonatal Screening

A special issue of International Journal of Neonatal Screening (ISSN 2409-515X).

Deadline for manuscript submissions: closed (31 December 2020) | Viewed by 33756

Special Issue Editors

Dr. Veronica Wiley

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Guest Editor
The NSW Newborn Screening Programme, The Children’s Hospital at Westmead, Westmead, NSW 2145, Australia
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. R. Rodney Howell

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Guest Editor
Miller School of Medicine, University of Miami, Miami, FL 33136, USA
Interests: prenatal diagnosis; child health; newborn screening
Dr. Peter C. J. I. Schielen

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Guest Editor
Office of the International Society for Neonatal Screening, Reigerskamp 273, 3607 HP Maarssen, The Netherlands
Interests: (neonatal screening in) Europe; (neonatal screening and) the Wilson and Jungner criteria; lysosomal storage diseases; application of next generation sequencing in neonatal screening; inherited errors of metabolism; tandem mass spectrometry; genomics; artificial intelligence in neonatal screening; cystic fibrosis; screening policies and governance; quality assurance
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Starting with two contributions on Dr. Louis Woolf, and with reference to the recent publication of biographies on Dr Max Wilson and Dr Gunnar Jungner in recent issues of IJNS, we herewith present a special issue on historically significant events and significant key players in neonatal screening. For this Special Issue, Guest Editors Prof. Veronica Wiley and Prof. Rodney Howell welcome biographies of colleagues that should be honored for their contribution to the field of neonatal screening or the history of all aspects of neonatal screening that have developed throughout the past decades and still determine neonatal screening today, and in the foreseeable future.

Dr. Veronica Wiley
Dr. R. Rodney Howell
Dr. Peter C.J.I. Schielen
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Neonatal Screening is an international peer-reviewed open access quarterly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

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Published Papers (6 papers)

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Editorial

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8 pages, 1292 KiB  
Editorial
Dr. Louis Isaac Woolf: At the Forefront of Newborn Screening and the Diet to Treat Phenylketonuria—Biography to Mark His 100th Birthday †
by José Ramón Alonso-Fernández
Int. J. Neonatal Screen. 2020, 6(3), 61; https://doi.org/10.3390/ijns6030061 - 3 Aug 2020
Cited by 7 | Viewed by 7007
Abstract
In mid 2019, the author reminded the (International Society for Neonatal Screening) ISNS of the happy occasion of the 100th birthday of one of the living pioneers of neonatal screening, Professor Louis Isaac Woolf [...] Full article
(This article belongs to the Special Issue History, Present and Future of Neonatal Screening)
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4 pages, 940 KiB  
Editorial
A Visit with Dr. Louis Woolf, Recognizing His 100th Birthday and His Contributions to the Diagnosis and Treatment of Phenylketonuria
by R. Rodney Howell and Graham Sinclair
Int. J. Neonatal Screen. 2020, 6(2), 45; https://doi.org/10.3390/ijns6020045 - 30 May 2020
Cited by 3 | Viewed by 2573
Abstract
One of the most dramatic discoveries in metabolic disease research was that of Ashbørn Følling, who in 1934, published his research outlining unusual biochemical findings in a set of siblings with severe developmental delay [...] Full article
(This article belongs to the Special Issue History, Present and Future of Neonatal Screening)
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Review

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15 pages, 4300 KiB  
Review
The First Treatment for PKU: The Pioneers—Birmingham 1951
by Anne Green
Int. J. Neonatal Screen. 2021, 7(1), 19; https://doi.org/10.3390/ijns7010019 - 20 Mar 2021
Cited by 8 | Viewed by 5663
Abstract
Prior to the introduction of newborn screening, Phenylketonuria (PKU) was a devastating disorder with affected individuals usually committed to a life in care in large institutions (asylums). Newborn screening only began after it was shown that those with PKU could be treated with [...] Read more.
Prior to the introduction of newborn screening, Phenylketonuria (PKU) was a devastating disorder with affected individuals usually committed to a life in care in large institutions (asylums). Newborn screening only began after it was shown that those with PKU could be treated with a modified diet and could subsequently lead normal lives. The first production of a diet and the demonstration of its effectiveness was thus a key milestone in the history of both PKU and newborn screening, and took place in Birmingham, UK, in 1951. The pioneers were a two-year-old girl called Sheila Jones, her mother Mary, and three dedicated professionals at Birmingham Children’s Hospital: Evelyn Hickmans, John Gerrard and Horst Bickel. Together, they changed the course of PKU for those across the world. This review summarises the history and achievements of this team who opened the door to PKU treatment and the introduction of newborn screening. Full article
(This article belongs to the Special Issue History, Present and Future of Neonatal Screening)
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5 pages, 175 KiB  
Review
Robert Guthrie and the Trials and Tribulations of Newborn Screening
by Harvey L. Levy
Int. J. Neonatal Screen. 2021, 7(1), 5; https://doi.org/10.3390/ijns7010005 - 19 Jan 2021
Cited by 17 | Viewed by 4859
Abstract
Routine newborn screening for many disorders is now so ingrained in newborn care that there is no question about whether it should be done. However, acceptance of newborn screening was not guaranteed when Robert Guthrie introduced it for phenylketonuria (PKU). This article describes [...] Read more.
Routine newborn screening for many disorders is now so ingrained in newborn care that there is no question about whether it should be done. However, acceptance of newborn screening was not guaranteed when Robert Guthrie introduced it for phenylketonuria (PKU). This article describes the professional and personal story of Guthrie, a physician and microbiologist, who veered from cancer research to a commitment to prevent intellectual disability from PKU. It recounts how Guthrie was able to overcome strong opposition to mandatory screening from prominent physicians and medical societies, so that newborn screening for PKU would be routinely performed throughout the developed world, and would eventually form the basis for the (much more) comprehensive screening conducted today. Full article
(This article belongs to the Special Issue History, Present and Future of Neonatal Screening)
4 pages, 528 KiB  
Review
The Early History of PKU
by Louis I. Woolf and John Adams
Int. J. Neonatal Screen. 2020, 6(3), 59; https://doi.org/10.3390/ijns6030059 - 29 Jul 2020
Cited by 22 | Viewed by 7471
Abstract
The story of phenylketonuria (PKU) started in 1934 with Asbjørn Følling’s examination of two mentally retarded siblings from a Norwegian family. However, if their mother had not been so persistent in her search for somebody who could give her a reason why both [...] Read more.
The story of phenylketonuria (PKU) started in 1934 with Asbjørn Følling’s examination of two mentally retarded siblings from a Norwegian family. However, if their mother had not been so persistent in her search for somebody who could give her a reason why both her children were retarded, Asbjørn Følling’s name might never have been associated with PKU and surely the history of PKU would have started differently. In the short review below, the authors give a partly personal and therefore rare account of the early history of PKU, its treatment and the start of neonatal screening. Prof. Woolf is a pioneer of both the dietary treatment of PKU and neonatal screening; Mr. Adams is a long-time advocate for PKU patient interests. Full article
(This article belongs to the Special Issue History, Present and Future of Neonatal Screening)
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Other

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11 pages, 5273 KiB  
Conference Report
Max Wilson and the Principles and Practice of Screening for Disease
by Kate Hall
Int. J. Neonatal Screen. 2020, 6(1), 15; https://doi.org/10.3390/ijns6010015 - 29 Feb 2020
Cited by 6 | Viewed by 5040
Abstract
The name Wilson will be forever associated with co-author Jungner and ten principles of population screening published in 1968 by the World Health Organisation (WHO) as Public Health Papers No 34. These principles have since been used, modified or extended throughout much of [...] Read more.
The name Wilson will be forever associated with co-author Jungner and ten principles of population screening published in 1968 by the World Health Organisation (WHO) as Public Health Papers No 34. These principles have since been used, modified or extended throughout much of Europe and beyond. Very little was known about Dr. J.M.G. Wilson and his life and how he came to write this monograph until the Silver Jubilee meeting of the International Society for Neonatal Screening held in The Hague in 2016. The opening session was chosen to be ‘The Wilson and Jungner criteria for screening for disease’. Full article
(This article belongs to the Special Issue History, Present and Future of Neonatal Screening)
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