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Newborn Screening for SMA—State of the Art
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Newborn Screening for SMA—State of the Art

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

Deadline for manuscript submissions: 31 May 2024 | Viewed by 1360

Special Issue Editors

Dr. Mei Baker

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Guest Editor
Wisconsin State Laboratory of Hygiene, Department of Pediatrics, School of Medicine and Public Health, University of Wisconsin, Madison, WI 53706, USA
Interests: emerging technologies in newborn screening (real-time PCR, next generation sequencing, droplet digital PCR); severe combined immunodeficiency; spinal muscular atrophy; cystic fibrosis
Special Issues, Collections and Topics in MDPI journals
Dr. Enzo Ranieri

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Guest Editor
Department of Newborn Screening, Sydney Children’s Hospital at Westmead, Westmead, NSW, Australia
Interests: metabolomics in newborn screening; cystic fibrosis; spinal muscular atrophy; high resolution mass spectrometry; next generation sequencing; advanced statistical procedures in data analysis; policies and governance of newborn screening programmes
Dr. Peter C. J. I. Schielen

E-Mail Website
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,

In 2018, spinal muscular atrophy (SMA) was included in the Recommended Uniform Screening Panel in the USA. Since then, in Europe, the USA and Australia, countries and states have begun to evaluate, operate or plan newborn screening programs for SMA.

On December 12th and 13th, 2023, we will host a virtual meeting of leaders in the field from around the world to discuss progress in programs, laboratory techniques and ELSI aspects of SMA screening. While we already have possible submissions for this Special Issue from the speakers of the virtual meeting, we warmly invite you to submit your contribution to this important issue. Thus, we hope to have an even more complete coverage of neonatal screening for SMA.

Dr. Mei Baker
Dr. Enzo Ranieri
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.

Keywords

  • SMA bith prevalence
  • screening program
  • laboratory methods
  • case definition
  • SMN1 and SMN2 copy numbers
  • quality assurance
  • ELSI aspects
  • treatment
  • short-term follow-up
  • long-term follow-up
  • efficacy of treatment

Published Papers (1 paper)

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Research

11 pages, 788 KiB  
Article
Establishment of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in Saint Petersburg
by Anton Kiselev, Marianna Maretina, Sofia Shtykalova, Haya Al-Hilal, Natalia Maslyanyuk, Mariya Plokhih, Elena Serebryakova, Marina Frolova, Natalia Shved, Nadezhda Krylova, Arina Il’ina, Svetlana Freund, Natalia Osinovskaya, Iskender Sultanov, Anna Egorova, Anastasia Lobenskaya, Alexander Koroteev, Irina Sosnina, Yulia Gorelik, Olesya Bespalova, Vladislav Baranov, Igor Kogan and Andrey Glotovadd Show full author list remove Hide full author list
Int. J. Neonatal Screen. 2024, 10(1), 9; https://doi.org/10.3390/ijns10010009 - 25 Jan 2024
Viewed by 949
Abstract
Spinal muscular atrophy 5q (SMA) is one of the most common neuromuscular inherited diseases and is the most common genetic cause of infant mortality. SMA is associated with homozygous deletion of exon 7 in the SMN1 gene. Recently developed drugs can improve the [...] Read more.
Spinal muscular atrophy 5q (SMA) is one of the most common neuromuscular inherited diseases and is the most common genetic cause of infant mortality. SMA is associated with homozygous deletion of exon 7 in the SMN1 gene. Recently developed drugs can improve the motor functions of infants with SMA when they are treated in the pre-symptomatic stage. With aim of providing an early diagnosis, newborn screening (NBS) for SMA using a real-time PCR assay with dried blood spots (DBS) was performed from January 2022 through November 2022 in Saint Petersburg, which is a representative Russian megapolis. Here, 36,140 newborns were screened by the GenomeX real-time PCR-based screening test, and three genotypes were identified: homozygous deletion carriers (4 newborns), heterozygous carriers (772 newborns), and wild-type individuals (35,364 newborns). The disease status of all four newborns that screened positive for the homozygous SMN1 deletion was confirmed by alternate methods. Two of the newborns had two copies of SMN2, and two of the newborns had three copies. We determined the incidence of spinal muscular atrophy in Saint Petersburg to be 1 in 9035 and the SMA carrier frequency to be 1 in 47. In conclusion, providing timely information regarding SMN1, confirmation of disease status, and SMN2 copy number as part of the SMA newborn-screening algorithm can significantly improve clinical follow-up, testing of family members, and treatment of patients with SMA. Full article
(This article belongs to the Special Issue Newborn Screening for SMA—State of the Art)
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