{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,3,16]],"date-time":"2025-03-16T04:16:16Z","timestamp":1742098576134,"version":"3.38.0"},"reference-count":28,"publisher":"Walter de Gruyter GmbH","issue":"1","license":[{"start":{"date-parts":[[2024,10,30]],"date-time":"2024-10-30T00:00:00Z","timestamp":1730246400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,1,29]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpm-2024-0339_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>We reported a performance during an implementation of prenatal cell-free (cf) DNA screening using single nucleotide polymorphism (SNP) approach in our accredited laboratory.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpm-2024-0339_abs_002\">\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Prospective audit with prompt intervention was set for the processing of 2,502 samples from singleton pregnancy from August 2017 to July 2019. Risks of trisomy 21 (T21), T18, T13, monosomy X (XO), and other sex chromosome aneuploidies (SCAs) were clarified by a proprietary bioinformatics algorithm.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpm-2024-0339_abs_003\">\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Laboratory failure occurred in 192 samples (7.7\u202f%) as a result of inadequate sequencing (n=144), fundamental limitation of the testing (n=19), and obvious human error (n=29). Faulty setting of the calibration curve was the most common human error (n=22\/29). After a redraw (n=110), 79 (71.8\u202f%) were settled. Overall, 2,389\/2,502 samples (95.5\u202f%) were reportable. Thirty-five samples were high-risk for T21 (n=19), T18 (n=5), T13 (n=1), XO (n=3), and other SCAs (n=7), respectively. Positive predictive values calculated from either prenatal confirmatory tests or postnatal findings were 93.8\u202f% (n=16), 100\u202f% (n=4), 50\u202f% (n=2), and 83.3\u202f% (n=6) for T21, T18, XO, and other SCAs, respectively, with high sensitivity and specificity (&gt;99.9\u202f%). Vanishing twin was detected from 1 out of 4 samples with detected additional haplotypes.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpm-2024-0339_abs_004\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>An overall performance of SNP-based prenatal cf-DNA screening during our initial implementation can be optimized with proactive approach. The technical know-how was a significant limiting factor for adopting the technology. The lessons learnt may be of interest to the academic laboratory considering adopting their own test instead of sending blood to a testing service of a supplier.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpm-2024-0339","type":"journal-article","created":{"date-parts":[[2024,10,29]],"date-time":"2024-10-29T07:40:51Z","timestamp":1730187651000},"page":"73-79","source":"Crossref","is-referenced-by-count":0,"title":["The first 2-year prospective audit of prenatal cell-free deoxyribonucleic screening using single nucleotide polymorphisms approach in a single academic laboratory"],"prefix":"10.1515","volume":"53","author":[{"given":"Tachjaree","family":"Panchalee","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology, Faculty of Medicine Siriraj Hospital , Mahidol University , Bangkok , Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naravat","family":"Poungvarin","sequence":"additional","affiliation":[{"name":"Department of Clinical Pathology, Faculty of Medicine Siriraj Hospital , Mahidol University , Bangkok , Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Warisa","family":"Amornrit","sequence":"additional","affiliation":[{"name":"Department of Clinical Pathology, Faculty of Medicine Siriraj Hospital , Mahidol University , Bangkok , Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chutima","family":"Yaiyiam","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Faculty of Medicine Siriraj Hospital , Mahidol University , Bangkok , Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7172-053X","authenticated-orcid":false,"given":"Tuangsit","family":"Wataganara","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Faculty of Medicine Siriraj Hospital , Mahidol University , Bangkok , Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2024,10,30]]},"reference":[{"key":"2025031512104823790_j_jpm-2024-0339_ref_001","doi-asserted-by":"crossref","unstructured":"Robson, SJ, Hui, L. 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