Publications by authors named "L Czibere"
Background/objectives: Genetic newborn screening (NBS) has already entered the phase of common practice in many countries. In Germany, spinal muscular atrophy (SMA), severe combined immunodeficiency (SCID) and sickle cell disease (SCD) are currently a mandatory part of NBS. Here, we describe the experience of six years of genetic NBS including the prevalence of those three diseases in Germany.
View Article and Find Full Text PDFBackground: 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).
Methods: This study analysed the impact of pre-analytic DNA carry-over in sample preparation on the outcome of DNA-based newborn screening for SCID and SMA and compared the efficacy of rapid extraction versus automated protocols.
Diagnostic tests for direct pathogen detection have been instrumental to contain the severe acute respiratory syndrome coronavirus type 2 (SARS-CoV-2) pandemic. Automated, quantitative, laboratory-based nucleocapsid antigen (Ag) tests for SARS-CoV-2 have been launched alongside nucleic acid-based test systems and point-of-care (POC) lateral-flow Ag tests. Here, we evaluated four commercial Ag tests on automated platforms for the detection of different sublineages of the SARS-CoV-2 Omicron variant of concern (VoC) (B.
View Article and Find Full Text PDFArticle Synopsis
- Since late 2021, the Omicron variant and its sublineages (like BA.4 and BA.5) have been the dominant strains of SARS-CoV-2, and their detection via rapid antigen tests (RATs) is less effective compared to previous variants like Delta.
- A study evaluated ten commonly used RATs on 171 respiratory samples from patients positive for Omicron-BA.4 and -BA.5, finding significant differences in test performance, with the worst RAT needing much higher viral loads to detect the infections.
- The results showed that true-positive detection rates varied greatly depending on the viral load, highlighting the inconsistency in RAT effectiveness and raising concerns about their reliability for public use amidst the ongoing
Article Synopsis
- The Omicron variant of COVID-19, particularly its subvariants BA.1 and BA.2, has emerged as a significant concern during the pandemic in 2022, affecting detection rates of infections.
- *Recent studies show that rapid antigen tests (RATs) have reduced effectiveness in detecting infections caused by Omicron-BA.1 compared to previous variants like Delta, with variability in performance among different RATs.
- *In a study evaluating five RATs, significant differences in detection sensitivity were observed, with some tests requiring much higher viral loads to return positive results, highlighting the need for increased awareness of these shortcomings as new Omicron subvariants arise.