Main biological tools applied to newborn screening: Landscape and future perspectives
Medecine/Sciences, ISSN: 1958-5381, Vol: 37, Issue: 5, Page: 461-467
2021
- 1Citations
- 17Captures
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Metrics Details
- Citations1
- Citation Indexes1
- Captures17
- Readers17
- 13
Review Description
Over the past fifty years, neonatal screening has become essential in the public health programs of a large number of countries. During all these years, the number of detectable diseases has continued to grow, following the possibilities offered by technical advances in clinical biology. The Guthrie test has enabled the miniaturization of blood sampling, opening up the possibilities of biological screening in the newborn population. Fluorimetry, immunoassay and more recently tandem mass spectrometry have subsequently allowed to detect many treatable disorders. The new developments of next generation sequencing and artificial intelligence may open a new era despite many ethical questions that will arise. This review provides an overview of the biological techniques currently used for neonatal screening and opens up perspectives on the place of new technological developments. Au cours des cinquante dernières années, le dépistage néonatal est devenu incontournable dans les programmes de santé publique de très nombreux pays. Durant toutes ces années, le nombre de maladies susceptibles d'être dépistées à la naissance n'a cessé de croître grâce aux possibilités offertes par les progrès techniques de la biologie clinique. Le test de Guthrie a permis la miniaturisation du prélèvement de sang, permettant ainsi le dépistage biologique dans la population des nouveau-nés. Par la suite, la fluorimétrie, l'immunoanalyse et, plus récemment, la spectrométrie de masse en tandem ont rendu possible le dépistage de nombreuses maladies qu'il est possible de traiter. Les nouvelles possibilités de séquençage du génome et d'intelligence artificielle vont probablement ouvrir une nouvelle ère, malgré les nombreuses questions éthiques qui se poseront. Cette revue propose de dresser le panorama des techniques biologiques utilisées actuellement pour le dépistage néonatal et de mettre en perspective la place de nouvelles évolutions techniques. © 2021 médecine/sciences - Inserm.
Bibliographic Details
http://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=85106181612&origin=inward; http://dx.doi.org/10.1051/medsci/2021062; http://www.ncbi.nlm.nih.gov/pubmed/34003091; https://www.medecinesciences.org/10.1051/medsci/2021062; https://dx.doi.org/10.1051/medsci/2021062; https://www.medecinesciences.org/articles/medsci/full_html/2021/05/msc200533/msc200533.html
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