Quality considerations and major pitfalls for high throughput DNA-based newborn screening for severe combined immunodeficiency and spinal muscular atrophy

Many newborn screening programs worldwide have introduced screening for diseases using DNA extracted from dried blood spots (DBS). In Germany, DNA-based assays are currently used to screen for severe combined immunodeficiency (SCID), spinal muscular atrophy (SMA), and sickle cell disease (SCD). This...

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Veröffentlicht in:	PloS one 2024-06, Vol.19 (6), p.e0306329
Hauptverfasser:	Bzdok, Jessica, Czibere, Ludwig, Burggraf, Siegfried, Landt, Olfert, Maier, Esther M, Röschinger, Wulf, Albert, Michael H, Hegert, Sebastian, Janzen, Nils, Becker, Marc, Durner, Jürgen
Format:	Artikel
Sprache:	eng
Schlagworte:	Atrophy B cells Blood Comparative analysis Deoxyribonucleic acid DNA DNA - analysis DNA - blood DNA - genetics Dried Blood Spot Testing - methods Endocrine disorders Ethylenediaminetetraacetic acid High-Throughput Screening Assays - methods Humans Immune system Impact analysis Infant, Newborn Infants (Newborn) Lymphocytes Lymphocytes T Medical prognosis Medical research Medical screening Medicine, Experimental Mortality Muscular Atrophy, Spinal - diagnosis Muscular Atrophy, Spinal - genetics Neonatal Screening - methods Neonates Pathogens Polymerase chain reaction Polymerase Chain Reaction - methods Sample preparation Severe combined immunodeficiency Severe Combined Immunodeficiency - diagnosis Severe Combined Immunodeficiency - genetics Sickle cell anemia Sickle cell disease Spinal muscular atrophy T cell receptors T cells
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