{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:52:36Z","timestamp":1786978356972,"version":"build-2736575974"},"reference-count":38,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2024,2,27]],"date-time":"2024-02-27T00:00:00Z","timestamp":1708992000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To clinically assess a cell\u2010based noninvasive prenatal genetic test using sequence\u2010based copy number analysis of single trophoblasts from maternal blood.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Blood was obtained from 401 (243\u00a0+\u00a0158) individuals (8\u201322\u00a0weeks) and shipped overnight. Red cells were lysed, and nucleated cells stained for cytokeratin (CK) and CD45 and enriched for positive CK staining. Automated scanning was used to identify and pick single CK\n                      <jats:sup>+<\/jats:sup>\n                      \/CD45\n                      <jats:sup>\u2010<\/jats:sup>\n                      trophoblasts which were subjected to next\u2010generation sequencing.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Blood was obtained from 243 pregnancies scheduled for CVS or amniocentesis. Luna results were normal for 160 singletons while 15 cases were abnormal (14 aneuploidy and one monozygotic twin with Williams syndrome deletion). The deletion was confirmed in both fetuses. Placental mosaicism occurred in 7 of 236 (3.0%) Luna cases and in 3 of 188 (1.6%) CVS cases (total 4.6%). No scorable trophoblasts were recovered in 32 of 236 usable samples. Additionally, 158 low\u2010risk pregnancies not undergoing CVS\/amniocentesis showed normal results in 133 cases. Seven had aneuploidy results, and there were three likely pathogenic deletions\/duplications, including one15q11\u2010q13 deletion.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Although the sample size is modest and statistically accurate measures of test performance are not possible, the Luna test detected aneuploidy and deletions\/duplications based on concordance with CVS\/amniocentesis.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pd.6529","type":"journal-article","created":{"date-parts":[[2024,2,27]],"date-time":"2024-02-27T07:15:43Z","timestamp":1709018143000},"page":"304-316","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Noninvasive single\u2010cell\u2010based prenatal genetic testing: A\u00a0proof of concept clinical 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