{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,10]],"date-time":"2026-07-10T10:29:41Z","timestamp":1783679381122,"version":"3.55.0"},"reference-count":15,"publisher":"Pensoft Publishers","issue":"5","license":[{"start":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T00:00:00Z","timestamp":1761782400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["FM"],"abstract":"<jats:p>Non-invasive prenatal testing (NIPT) has transformed prenatal screening, offering high sensitivity and specificity in the detection of common fetal aneuploidies. However, discordant results\u2014where NIPT findings do not align with those of confirmatory diagnostics\u2014pose challenges for clinical interpretation and patient counseling.<\/jats:p>\n                  <jats:p>This study aims to analyze the contributing factors and clinical implications of discordant NIPT results using two illustrative case studies.<\/jats:p>\n                  <jats:p>Two cases with discordant NIPT findings were examined. Case 1 involved unexplained fetal growth restriction with normal NIPT results, while Case 2 presented a false-positive NIPT result indicating trisomy 7. Both cases underwent invasive testing (amniocentesis) and comprehensive ultrasound evaluation. In Case 1, a chromosomal microdeletion (4p16.3) associated with Wolf-Hirschhorn syndrome was identified despite normal NIPT results. In Case 2, the suspected trisomy 7 was not confirmed by invasive testing, suggesting confined placental mosaicism or technical limitations as potential causes of discordance.<\/jats:p>\n                  <jats:p>Discordant non-invasive prenatal testing (NIPT) results may arise from biological factors, such as confined placental mosaicism or maternal conditions, or from technical constraints. These cases underscore the importance of invasive confirmatory testing and multidisciplinary counseling to ensure an accurate diagnosis and enable informed decision-making in prenatal care.<\/jats:p>","DOI":"10.3897\/folmed.67.e142694","type":"journal-article","created":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T14:36:28Z","timestamp":1761575788000},"source":"Crossref","is-referenced-by-count":2,"title":["Challenges and clinical implications of discordant non-invasive prenatal testing results: insights from two case studies"],"prefix":"10.3897","volume":"67","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5302-5517","authenticated-orcid":true,"given":"Slavyana","family":"Galeva","sequence":"first","affiliation":[{"name":"Sheynovo Hospital, Sofia, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5221-3815","authenticated-orcid":true,"given":"Boris","family":"Stoilov","sequence":"additional","affiliation":[{"name":"Medical University of Plovdiv, Plovdiv, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ekaterina","family":"Uchikova","sequence":"additional","affiliation":[{"name":"Medical University of Plovdiv, Plovdiv, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"2258","published-online":{"date-parts":[[2025,10,30]]},"reference":[{"key":"142694_B1","doi-asserted-by":"publisher","DOI":"10.24976\/discov.med.202335176.36"},{"key":"142694_B2","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5908"},{"key":"142694_B3","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.6280"},{"key":"142694_B4","doi-asserted-by":"publisher","DOI":"10.1016\/j.heliyon.2024.e40379"},{"key":"142694_B5","doi-asserted-by":"publisher","DOI":"10.1093\/bib\/bbae266"},{"key":"142694_B6","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pcbi.1009684"},{"key":"142694_B7","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5408"},{"key":"142694_B8","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5438"},{"key":"142694_B9","doi-asserted-by":"publisher","DOI":"10.1101\/2021.11.03.21265829"},{"key":"142694_B10","doi-asserted-by":"publisher","DOI":"10.1186\/s12884-022-04966-8"},{"key":"142694_B11","doi-asserted-by":"publisher","DOI":"10.1159\/000518002"},{"key":"142694_B12","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.21.02260"},{"key":"142694_B13","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6406"},{"key":"142694_B14","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6388"},{"key":"142694_B15","doi-asserted-by":"publisher","DOI":"10.1515\/jpm-2021-0211"}],"container-title":["Folia Medica"],"original-title":[],"link":[{"URL":"https:\/\/foliamedica.bg\/article\/142694\/download\/pdf\/","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/foliamedica.bg\/article\/142694\/download\/xml\/","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/foliamedica.bg\/article_preview.php?id=142694&skip_redirect=1","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T14:36:29Z","timestamp":1761575789000},"score":1,"resource":{"primary":{"URL":"https:\/\/foliamedica.bg\/article\/142694\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10,30]]},"references-count":15,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2025,10,30]]}},"URL":"https:\/\/doi.org\/10.3897\/folmed.67.e142694","relation":{},"ISSN":["1314-2143","0204-8043"],"issn-type":[{"value":"1314-2143","type":"electronic"},{"value":"0204-8043","type":"print"}],"subject":[],"published":{"date-parts":[[2025,10,30]]},"article-number":"e142694"}}