New-Born Screening for Spinal Muscular Atrophy : Results of a Latvian Pilot Study

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dc.contributor.authorGailite, Linda
dc.contributor.authorSterna, Olga
dc.contributor.authorKonika, Maija
dc.contributor.authorIsakovs, Aleksejs
dc.contributor.authorIsakova, Jekaterina
dc.contributor.authorMicule, Ieva
dc.contributor.authorSetlere, Signe
dc.contributor.authorDiriks, Mikus
dc.contributor.authorAuzenbaha, Madara
dc.contributor.institutionScientific Laboratory of Molecular Genetics
dc.date.accessioned2022-08-16T21:03:57Z
dc.date.available2022-08-16T21:03:57Z
dc.date.issued2022-03
dc.descriptionFunding Information: Funding: This research was funded by Latvian Science Council project No 2020/2-0275. Publisher Copyright: © 2022 by the authors. Licensee MDPI, Basel, Switzerland.
dc.description.abstractNew disease-modifying treatments have recently been approved for 5q spinal muscular atrophy (SMA) and early treatment has been associated with a better clinical outcome. Accordingly, new-born screening (NBS) for SMA should be implemented to ensure early diagnosis of affected individuals. The aim of this study was to determine the feasibility and usefulness of NBS for SMA in Latvia. Between February and November of 2021, 10,411 parents consented to participation in the study. DNA testing for the SMN1 exon 7 homozygous deletion was conducted using qPCR with fluorescent locked nucleic acid primers. In the first month of testing, reporting of results took up to a maximum of 17 days after samples arrived in the laboratory. However, following familiarisation with the procedure, the median report time was reduced to 11 days after birth. Forty cases required samples to be taken again due to poor quality of the isolated DNA transpiring from either the quality of the blood punch or manual mistakes during DNA isolation. The SMN1 exon 7 homozygous deletion was identified in two individuals, which was subsequently confirmed by multiplex ligation-dependent probe amplification. When a NBS sample is taken 48 to 72 h after birth and transported to the laboratory within two working days after collection according to legal requirements, DNA test results can be reported to healthcare professionals before the 12th day of life. Expansion of our SMA 5q NBS procedure to the whole of Latvia is feasible and would facilitate early diagnosis and result in more effective treatment. We strongly advocate that SMA is added to the national Latvia Recommended Uniform Screening Panel.en
dc.description.statusPeer reviewed
dc.format.extent545840
dc.identifier.citationGailite, L, Sterna, O, Konika, M, Isakovs, A, Isakova, J, Micule, I, Setlere, S, Diriks, M & Auzenbaha, M 2022, 'New-Born Screening for Spinal Muscular Atrophy : Results of a Latvian Pilot Study', International Journal of Neonatal Screening, vol. 8, no. 1, 15. https://doi.org/10.3390/ijns8010015
dc.identifier.doi10.3390/ijns8010015
dc.identifier.issn2409-515X
dc.identifier.urihttps://dspace.rsu.lv/jspui/handle/123456789/9458
dc.identifier.urlhttp://www.scopus.com/inward/record.url?scp=85124823803&partnerID=8YFLogxK
dc.language.isoeng
dc.relation.ispartofInternational Journal of Neonatal Screening
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectDried blood spot screening
dc.subjectNew-born screening
dc.subjectSMA 5q
dc.subjectSMN1
dc.subjectSpinal muscular atrophy
dc.subject3.2 Clinical medicine
dc.subject1.1. Scientific article indexed in Web of Science and/or Scopus database
dc.subjectPediatrics, Perinatology, and Child Health
dc.subjectImmunology and Microbiology (miscellaneous)
dc.subjectObstetrics and Gynaecology
dc.titleNew-Born Screening for Spinal Muscular Atrophy : Results of a Latvian Pilot Studyen
dc.type/dk/atira/pure/researchoutput/researchoutputtypes/contributiontojournal/article

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