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Samples were sequenced on a NextSeq 550 (Illumina) using the VeriSeq NIPT Solution v1 assay.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>A retrospective analysis was performed on 36,456 consecutive maternal blood samples, including 35,650 singleton pregnancies, 800 twin pregnancies, and 6 triplet pregnancies. Samples were tested between April 2017 and September 2019. The cohort included 46% elevated-risk and 54% low-risk patients. A result indicative of a classic trisomy was found in 356 (1%) of singleton or twin samples: 254 T21, 69 T18, and 33 T13. In addition, 145 results (0.4%) were indicative of a SCA. Of the combined 501 screen-positive cases, 484 had confirmatory diagnostic testing. NIPT results were confirmed in 99.2% (247\/249) of T21 cases, 91.2% (62\/68) of T18 cases, 84.4% (27\/32) of T13 cases, and 86.7% (117\/135) of SCA cases. In the 35,955 cases reported as unaffected by a classic trisomy or SCA, no false negative cases were reported. Assuming that false negative results would be reported, the sensitivity of NIPT was 100.00% for T21 (95% Cl 98.47\u2013100.0), T18 (95% Cl 94.17\u2013100.0), and T13 (95% Cl 87.54\u2013100.0). The specificities were 99.99% (95% Cl 99.98\u2013100.0), 99.98% (95% Cl 99.96\u2013100.0), 99.99% (95% Cl 99.97\u2013100.0), and 99.95% (95% Cl 99.92\u201399.97) for T21, T18, T13, and SCA, respectively.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This retrospective analysis of a large cohort of consecutive patients who had whole-genome sequencing-based NIPT for classic trisomies and SCA shows excellent detection rates and low false positive rates.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s12920-021-00941-y","type":"journal-article","created":{"date-parts":[[2021,3,30]],"date-time":"2021-03-30T11:03:34Z","timestamp":1617102214000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":59,"title":["Performance of cell-free DNA sequencing-based non-invasive prenatal testing:  experience on 36,456 singleton and multiple pregnancies"],"prefix":"10.1186","volume":"14","author":[{"given":"Marco","family":"La Verde","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0553-2087","authenticated-orcid":false,"given":"Luigia","family":"De Falco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annalaura","family":"Torella","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Savarese","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pasquale","family":"Savarese","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raffaella","family":"Ruggiero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Conte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vera","family":"Fico","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8853-5760","authenticated-orcid":false,"given":"Marco","family":"Torella","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Fico","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,3,30]]},"reference":[{"key":"941_CR1","doi-asserted-by":"publisher","first-page":"446","DOI":"10.1002\/uog.15829","volume":"48","author":"P Wagner","year":"2016","unstructured":"Wagner P, Sonek J, Hoopmann M, Abele H, Kagan KO. 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No other administrative permissions or licenses were required to access the clinical\/personal patient data. All the study participants provided written informed consent before enrolment in the study.","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 that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"93"}}