{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,25]],"date-time":"2026-03-25T07:12:13Z","timestamp":1774422733267,"version":"3.50.1"},"reference-count":12,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2025,12,11]],"date-time":"2025-12-11T00:00:00Z","timestamp":1765411200000},"content-version":"vor","delay-in-days":10,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Obstet and Gynaecol"],"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Non\u2010invasive prenatal testing (NIPT) is a screening method that analyzes cell\u2010free DNA (cfDNA) in maternal plasma to detect major aneuploidies. However, NIPT can fail to identify subtle chromosomal aberrations. We report a case in which chromosomal microarray analysis (CMA) revealed partial trisomy and partial monosomy of chromosome 21, despite negative results with both NIPT and fluorescence in\u00a0situ hybridization (FISH). The neonate presented with characteristic phenotypes consistent with Down syndrome (DS). The same chromosomal imbalance was confirmed by postnatal peripheral blood CMA. This case underscores the limitations of NIPT and FISH in detecting structural chromosomal rearrangements and highlights the importance of incorporating CMA when such abnormalities are suspected. Additionally, it emphasizes the critical role of genetic counseling in supporting informed decision\u2010making during the prenatal diagnostic process.<\/jats:p>","DOI":"10.1111\/jog.70168","type":"journal-article","created":{"date-parts":[[2025,12,11]],"date-time":"2025-12-11T11:59:07Z","timestamp":1765454347000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Partial Trisomy and Partial Monosomy 21 Undetected by\n                    <scp>NIPT<\/scp>\n                    and\n                    <scp>FISH<\/scp>\n                    : A Case Report and Literature Review"],"prefix":"10.1111","volume":"51","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-6113-9163","authenticated-orcid":false,"given":"Kota","family":"Watanabe","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology Jichi Medical University  Shimotsuke Tochigi Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1652-9438","authenticated-orcid":false,"given":"Hironori","family":"Takahashi","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Jichi Medical University  Shimotsuke Tochigi Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Risa","family":"Narumi","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Jichi Medical University  Shimotsuke Tochigi Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9410-1782","authenticated-orcid":false,"given":"Manabu","family":"Ogoyama","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Jichi Medical University  Shimotsuke Tochigi Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenji","family":"Horie","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Jichi Medical University  Shimotsuke Tochigi Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroyuki","family":"Fujiwara","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Jichi Medical University  Shimotsuke Tochigi Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,12,11]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0000000000004084"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.semcdb.2021.02.001"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41588\u2010019\u20100576\u20107"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1149504"},{"issue":"3","key":"e_1_2_12_6_1","first-page":"183","article-title":"Partial Trisomy and Monosomy 21 in an Infant With an Unusual De Novo 21\/21 Translocation","volume":"23","author":"Cantu J. M.","year":"1980","journal-title":"Annales de G\u00e9n\u00e9tique"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200510000-00003"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1155\/2014\/965401"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12920\u2010022\u201001422\u20106"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13039\u2010016\u20100230\u20103"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.150"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196505272722102"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37031"}],"container-title":["Journal of Obstetrics and Gynaecology Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jog.70168","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,22]],"date-time":"2025-12-22T04:03:57Z","timestamp":1766376237000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1111\/jog.70168"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12]]},"references-count":12,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2025,12]]}},"alternative-id":["10.1111\/jog.70168"],"URL":"https:\/\/doi.org\/10.1111\/jog.70168","archive":["Portico"],"relation":{},"ISSN":["1341-8076","1447-0756"],"issn-type":[{"value":"1341-8076","type":"print"},{"value":"1447-0756","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,12]]},"assertion":[{"value":"2025-08-22","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-12-01","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-12-11","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70168"}}