Visualization using NIPTviewer support the clinical interpretation of noninvasive prenatal testing results
Abstract Background Noninvasive prenatal testing (NIPT) is increasingly used to screen for fetal chromosomal aneuploidy by analyzing cell-free DNA (cfDNA) in peripheral maternal blood. The method provides an opportunity for early detection of large genetic abnormalities without an increased risk of...
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BMC
2025-01-01
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| Series: | BMC Medical Genomics |
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| Online Access: | https://doi.org/10.1186/s12920-025-02086-8 |
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| author | Patrik Smeds Izabella Baranowska Körberg Malin Melin Claes Ladenvall |
| author_facet | Patrik Smeds Izabella Baranowska Körberg Malin Melin Claes Ladenvall |
| author_sort | Patrik Smeds |
| collection | DOAJ |
| description | Abstract Background Noninvasive prenatal testing (NIPT) is increasingly used to screen for fetal chromosomal aneuploidy by analyzing cell-free DNA (cfDNA) in peripheral maternal blood. The method provides an opportunity for early detection of large genetic abnormalities without an increased risk of miscarriage due to invasive procedures. Commercial applications for use at clinical laboratories often take advantage of DNA sequencing technologies and include the bioinformatic workup of the sequence data. The interpretation of the test results and the clinical report writing, however, remains the responsibility of the diagnostic laboratory. In order to facilitate this step, we developed NIPTviewer, a web-based application to visualize and guide the interpretation of NIPT data results. Results NIPTviewer has a database functionality to store the NIPT results and a web interface for user interaction and visualization. The application has been implemented as part of a novel analysis pipeline for NIPT in a diagnostic laboratory at Uppsala University Hospital. The validation data set included 84 previously analyzed plasma samples with known results regarding chromosomes 13, 18, 21, X and Y. They were sequenced in six different experiments, uploaded to NIPTviewer and assigned to a clinical laboratory geneticist for interpretation. The results of all previously analyzed samples were replicated. Conclusion NIPTviewer facilitates NIPT results interpretation and has been implemented as part of a NIPT analysis routine that was accredited by the national accreditation body for Sweden (Swedac). |
| format | Article |
| id | doaj-art-de23bbc5b68f40868c64f5930f8afb3c |
| institution | DOAJ |
| issn | 1755-8794 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medical Genomics |
| spelling | doaj-art-de23bbc5b68f40868c64f5930f8afb3c2025-08-20T03:10:08ZengBMCBMC Medical Genomics1755-87942025-01-011811610.1186/s12920-025-02086-8Visualization using NIPTviewer support the clinical interpretation of noninvasive prenatal testing resultsPatrik Smeds0Izabella Baranowska Körberg1Malin Melin2Claes Ladenvall3Department of Immunology, Genetics and Pathology, Rudbeck Laboratory, Uppsala UniversityDepartment of Immunology, Genetics and Pathology, Rudbeck Laboratory, Uppsala UniversityDepartment of Immunology, Genetics and Pathology, Rudbeck Laboratory, Uppsala UniversityDepartment of Immunology, Genetics and Pathology, Rudbeck Laboratory, Uppsala UniversityAbstract Background Noninvasive prenatal testing (NIPT) is increasingly used to screen for fetal chromosomal aneuploidy by analyzing cell-free DNA (cfDNA) in peripheral maternal blood. The method provides an opportunity for early detection of large genetic abnormalities without an increased risk of miscarriage due to invasive procedures. Commercial applications for use at clinical laboratories often take advantage of DNA sequencing technologies and include the bioinformatic workup of the sequence data. The interpretation of the test results and the clinical report writing, however, remains the responsibility of the diagnostic laboratory. In order to facilitate this step, we developed NIPTviewer, a web-based application to visualize and guide the interpretation of NIPT data results. Results NIPTviewer has a database functionality to store the NIPT results and a web interface for user interaction and visualization. The application has been implemented as part of a novel analysis pipeline for NIPT in a diagnostic laboratory at Uppsala University Hospital. The validation data set included 84 previously analyzed plasma samples with known results regarding chromosomes 13, 18, 21, X and Y. They were sequenced in six different experiments, uploaded to NIPTviewer and assigned to a clinical laboratory geneticist for interpretation. The results of all previously analyzed samples were replicated. Conclusion NIPTviewer facilitates NIPT results interpretation and has been implemented as part of a NIPT analysis routine that was accredited by the national accreditation body for Sweden (Swedac).https://doi.org/10.1186/s12920-025-02086-8Non-invasive prenatal testing (NIPT)DiagnosticsCell-free DNAScreeningAneuploidyTrisomy |
| spellingShingle | Patrik Smeds Izabella Baranowska Körberg Malin Melin Claes Ladenvall Visualization using NIPTviewer support the clinical interpretation of noninvasive prenatal testing results BMC Medical Genomics Non-invasive prenatal testing (NIPT) Diagnostics Cell-free DNA Screening Aneuploidy Trisomy |
| title | Visualization using NIPTviewer support the clinical interpretation of noninvasive prenatal testing results |
| title_full | Visualization using NIPTviewer support the clinical interpretation of noninvasive prenatal testing results |
| title_fullStr | Visualization using NIPTviewer support the clinical interpretation of noninvasive prenatal testing results |
| title_full_unstemmed | Visualization using NIPTviewer support the clinical interpretation of noninvasive prenatal testing results |
| title_short | Visualization using NIPTviewer support the clinical interpretation of noninvasive prenatal testing results |
| title_sort | visualization using niptviewer support the clinical interpretation of noninvasive prenatal testing results |
| topic | Non-invasive prenatal testing (NIPT) Diagnostics Cell-free DNA Screening Aneuploidy Trisomy |
| url | https://doi.org/10.1186/s12920-025-02086-8 |
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