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High throughput newborn screening for Sickle cell disease - application of two-tiered testing with a qPCR-based primary screen = Hochdurchsatz-Neugeborenenscreening auf Sichelzellkrankheit - Anwendung einer zweistufigen Analytik mit einem qPCR-basierten Primärscreening

Background: Sickle cell disease (SCD) is a group of hemoglobinopathies with a common point mutation causing the production of sickle cell hemoglobin (HbS). In high-throughput newborn screening (NBS) for SCD, a two-step procedure is suitable, in which qPCR first pre-selects relevant samples that are...

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Main Authors: Janda, Joachim (Author) , Hegert, Sebastian (Author) , Bzdok, Jessica (Author) , Tesorero, Rafael (Author) , Holtkamp, Ute (Author) , Burggraf, Siegfried (Author) , Schuhmann, Elfriede (Author) , Hörster, Friederike (Author) , Hoffmann, Georg F. (Author) , Janzen, Nils (Author) , Okun, Jürgen G. (Author) , Becker, Marc (Author) , Durner, Jürgen (Author)
Format: Article (Journal)
Language:English
Published: 2023
In: Klinische Pädiatrie
Year: 2023, Pages: 1-7
ISSN:0300-8630
DOI:10.1055/a-2153-7789
Online Access:Verlag, kostenfrei, Volltext: https://doi.org/10.1055/a-2153-7789
Verlag, kostenfrei, Volltext: http://www.thieme-connect.de/DOI/DOI?10.1055/a-2153-7789
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Author Notes:Joachim Janda, Sebastian Hegert, Jessica Bzdok, Rafael Tesorero, Ute Holtkamp, Siegfried Burggraf, Elfriede Schuhmann, Friedrike Hörster, Georg F. Hoffmann, Nils Janzen, Jürgen G. Okun, Marc Becker, Jürgen Durner
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Summary:Background: Sickle cell disease (SCD) is a group of hemoglobinopathies with a common point mutation causing the production of sickle cell hemoglobin (HbS). In high-throughput newborn screening (NBS) for SCD, a two-step procedure is suitable, in which qPCR first pre-selects relevant samples that are differentiated by a second method. Methods: Three NBS centers using qPCR-based primary screening for SCD performed a laboratory comparison. Methods using tandem MS or HPLC were used for differentiation. Results: In a benchmarking test, 450 dried blood samples were analyzed. Samples containing HbS were detected as reliably by qPCR as by methods established for hemoglobinopathy testing. In a two-step screening approach, the 2nd-tier-analyses have to distinguish the carrier status from pathological variants. In nine months of regular screening, a total of 353,219 samples were analyzed using two-stage NBS procedures. The 1st-tier screening by qPCR reduced the number of samples for subsequent differentiation by >99.5%. Cases with carrier status or other variants were identified as inconspicuous while 78 cases with SCD were revealed. The derived incidence of 1:4,773, is in good agreement with previously published incidences. Conclusion: In high-throughput NBS for SCD, qPCR is suitable to focus 2nd-tier analyses on samples containing HbS, while being unaffected by factors such as prematurity or transfusions. The substantial reduction of samples numbers positively impacts resource conservation, sustainability, and cost-effectiveness. No false negative cases came to attention.
Item Description:Artikel online veröffentlicht: 25. September 2023
Gesehen am 07.11.2023
Physical Description:Online Resource
ISSN:0300-8630
DOI:10.1055/a-2153-7789

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