{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T02:35:13Z","timestamp":1787020513628,"version":"build-2736575974"},"reference-count":15,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,1,20]],"date-time":"2025-01-20T00:00:00Z","timestamp":1737331200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,1,20]],"date-time":"2025-01-20T00:00:00Z","timestamp":1737331200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100007051","name":"Uppsala University","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100007051","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genomics"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>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).<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s12920-025-02086-8","type":"journal-article","created":{"date-parts":[[2025,1,20]],"date-time":"2025-01-20T13:08:26Z","timestamp":1737378506000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Visualization using NIPTviewer support the clinical interpretation of noninvasive prenatal testing results"],"prefix":"10.1186","volume":"18","author":[{"given":"Patrik","family":"Smeds","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Izabella","family":"Baranowska K\u00f6rberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Malin","family":"Melin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claes","family":"Ladenvall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,1,20]]},"reference":[{"key":"2086_CR1","doi-asserted-by":"publisher","first-page":"812781","DOI":"10.3389\/fped.2022.812781","volume":"10","author":"C Deng","year":"2022","unstructured":"Deng C, Liu S. Factors affecting the fetal fraction in noninvasive prenatal screening: a review. Front Pediatr. 2022;10:812781.","journal-title":"Front Pediatr"},{"issue":"6","key":"2086_CR2","doi-asserted-by":"publisher","first-page":"722","DOI":"10.1111\/aogs.13841","volume":"99","author":"K Gadsb\u00f8ll","year":"2020","unstructured":"Gadsb\u00f8ll K, Petersen OB, Gatinois V, et al. Current use of noninvasive prenatal testing in Europe, Australia and the USA: a graphical presentation. Acta Obstet Gynecol Scand. 2020;99(6):722\u201330.","journal-title":"Acta Obstet Gynecol Scand"},{"issue":"5","key":"2086_CR3","doi-asserted-by":"publisher","first-page":"e0298643","DOI":"10.1371\/journal.pone.0298643","volume":"19","author":"E Sebire","year":"2024","unstructured":"Sebire E, Rodrigo CH, Bhattacharya S, Black M, Wood R, Vieira R. The implementation and impact of non-invasive prenatal testing (NIPT) for Down\u2019s syndrome into antenatal screening programmes: a systematic review and meta-analysis. PLoS ONE. 2024;19(5):e0298643. https:\/\/doi.org\/10.1371\/journal.pone.0298643","journal-title":"PLoS ONE"},{"issue":"15","key":"2086_CR4","doi-asserted-by":"publisher","first-page":"2570","DOI":"10.3390\/diagnostics13152570","volume":"13","author":"SS Jayashankar","year":"2023","unstructured":"Jayashankar SS, Nasaruddin ML, Hassan MF, et al. Non-invasive prenatal testing (NIPT): reliability, challenges, and future directions. Diagnostics (Basel). 2023;13(15):2570.","journal-title":"Diagnostics (Basel)"},{"key":"2086_CR5","unstructured":"NIPT Analysis Software (16 samples) User guide. Illumina document #1000000012693 v05. April 2020, https:\/\/support.illumina.com\/content\/dam\/illumina-support\/documents\/documentation\/software_documentation\/veriseq-nipt-analysis-sw-16\/veriseq-nipt-analysis-software-guide-16-1000000012693-05.pdf. Accessed 22 Aug 2024."},{"key":"2086_CR6","unstructured":"Materialize. Aug. https:\/\/materializecss.com. Accessed 22 2024."},{"key":"2086_CR7","unstructured":"Django documentation. https:\/\/docs.djangoproject.com\/en\/3.1. Accessed 22 Aug 2024."},{"key":"2086_CR8","unstructured":"Pandas user guide. https:\/\/pandas.pydata.org\/docs\/user_guide\/index.html. Accessed 22 Aug 2024."},{"key":"2086_CR9","unstructured":"NVD3, -. Aug A reusable D3 charting library. https:\/\/github.com\/novus\/nvd3. Accessed 22 2024."},{"key":"2086_CR10","unstructured":"SciPy. Aug source repository. https:\/\/github.com\/scipy\/scipy. Accessed 22 2024."},{"key":"2086_CR11","unstructured":"pycodestyle\u2019s documentation. https:\/\/pycodestyle.pycqa.org\/en\/latest. Accessed 22 Aug 2024."},{"key":"2086_CR12","unstructured":"NIPTviewer image on dockerhub. https:\/\/hub.docker.com\/r\/smeds84\/niptviewer. Accessed 22 Aug 2024."},{"key":"2086_CR13","unstructured":"NIPTviewer. Aug github repository. https:\/\/github.com\/clinical-genomics-uppsala\/NIPTviewer. Accessed 22 2024."},{"key":"2086_CR14","unstructured":"NIPTviewer documentation. https:\/\/niptviewer.readthedocs.io. Accessed 22 Aug 2024."},{"issue":"7","key":"2086_CR15","doi-asserted-by":"publisher","first-page":"1042","DOI":"10.1373\/clinchem.2011.165910","volume":"57","author":"AJ Sehnert","year":"2011","unstructured":"Sehnert AJ, Rhees B, Comstock D, et al. Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood. Clin Chem. 2011;57(7):1042\u20139.","journal-title":"Clin Chem"}],"container-title":["BMC Medical Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12920-025-02086-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12920-025-02086-8\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12920-025-02086-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,8]],"date-time":"2025-04-08T08:40:36Z","timestamp":1744101636000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcmedgenomics.biomedcentral.com\/articles\/10.1186\/s12920-025-02086-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1,20]]},"references-count":15,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["2086"],"URL":"https:\/\/doi.org\/10.1186\/s12920-025-02086-8","relation":{},"ISSN":["1755-8794"],"issn-type":[{"value":"1755-8794","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1,20]]},"assertion":[{"value":"6 September 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 January 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 January 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"NIPTviewer was developed as Uppsala University Hospital developed, verified and implemented the mentioned NIPT analysis. The verification referred to in the manuscript was part of the development work to establish the NIPT analysis at Uppsala University Hospital. According to the Swedish Biobank Act (\n                      \n                      ) samples stored in a biobank for the sample donor\u2019s care or treatment may be used for development work of healthcare activities. Samples or data are however not allowed to be sent out from the laboratory without proper consent, or used for other purposes. The relevant section within the biobank act are the sections involving care or treatment (\u00a7\u00a07-\u00a7\u00a010),","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"15"}}