Reliable detection of sex chromosome abnormalities by quantitative fluorescence polymerase chain reaction
This method is promising for reliable SCA detection in blood samples, offering cost-effectiveness and scalability. The specificity following automated data analysis was not satisfactory. The underlying PCR technique, however, demonstrated 100 % specificity, indicating that refining the automated analysis algorithm would significantly reduce false positive results. With further refinements, we believe this test would be highly suitable for further evaluation in a newborn screening setting.
Authors
- Jan Keller‐Findeisen (ORCID: https://orcid.org/0000-0003-2753-0848)
- Dorte Launholt Lildballe (ORCID: https://orcid.org/0000-0003-0223-1673)
- Rolf Schäfer (ORCID: https://orcid.org/0000-0003-3414-3977)
- Camilla Mains Balle (ORCID: https://orcid.org/0000-0001-7890-8201)
- Anne Skakkebæk (ORCID: https://orcid.org/0000-0001-9178-4901)
- Claus Højbjerg Gravholt (ORCID: https://orcid.org/0000-0001-5924-1720)
- Johannes Becker‐Follmann
- Simon Chang (ORCID: https://orcid.org/0000-0003-1130-3659)
- Axel Weber (ORCID: https://orcid.org/0000-0002-3884-2970)
- Ivonne Bedei (ORCID: https://orcid.org/0000-0002-7688-5357)
- Ruth Luschka
- Zeynep Agirman
Institutions
- Philipps University of Marburg (DE)
- Justus-Liebig-Universität Gießen (DE)
- Aarhus University (DK)
- Aarhus University Hospital (DK)
- Kinderkrankenhaus auf der Bult (DE)
Publication Details
- Journal
- Clinical Chemistry and Laboratory Medicine (CCLM)
- Published
- 2025-03-19
- DOI
- https://doi.org/10.1515/cclm-2024-1400
- Citations
- 1
- Primary Topic
- Prenatal Screening and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 3.49
Funders
- Danish Diabetes Academy