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: | , , , , , , , , , , , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
2023
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| 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 |
MARC
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| 245 | 1 | 0 | |a High throughput newborn screening for Sickle cell disease - application of two-tiered testing with a qPCR-based primary screen |b = Hochdurchsatz-Neugeborenenscreening auf Sichelzellkrankheit - Anwendung einer zweistufigen Analytik mit einem qPCR-basierten Primärscreening |c 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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| 520 | |a 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. | ||
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