{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T01:13:58Z","timestamp":1787015638839,"version":"build-2736575974"},"reference-count":14,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2022,3,23]],"date-time":"2022-03-23T00:00:00Z","timestamp":1647993600000},"content-version":"vor","delay-in-days":0,"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":[[2022,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>We report a case of a neonatal diagnosis of Prader\u2013Willi syndrome caused by uniparental disomy. A 34\u2010year\u2010old pregnant woman underwent noninvasive prenatal testing (NIPT) in a hospital that was not certified by the Japanese Association of Medical Sciences. The results of trisomy 13, 18, and 21 were negative; however, a possible abnormality in chromosome 15 was indicated by the Z\u2010score. Genetic counseling was not performed; thus, the woman did not understand the implication of this result. Therefore, she continued with the pregnancy and delivered a boy weighing 1892\u2009g with hypogonadism at 38\u2009weeks and 5\u2009days. The infant was diagnosed with Prader\u2013Willi syndrome caused by uniparental disomy derived from trisomy rescue. The NIPT results may have reflected placental mosaicism, emphasizing the importance of understanding the limitations of NIPT due to the presence of congenital chromosomal abnormalities that cannot be detected by NIPT platforms.<\/jats:p>","DOI":"10.1111\/jog.15236","type":"journal-article","created":{"date-parts":[[2022,3,23]],"date-time":"2022-03-23T20:44:23Z","timestamp":1648068263000},"page":"2214-2218","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Noninvasive prenatal testing suggesting an abnormality in chromosome 15 confirmed to be a case of Prader\u2013Willi syndrome caused by trisomy rescue in the neonatal period"],"prefix":"10.1111","volume":"48","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3087-3385","authenticated-orcid":false,"given":"Tomohiro","family":"Okuda","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology Fukuchiyama City Hospital  Fukuchiyama City Kyoto Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masaharu","family":"Moroto","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Fukuchiyama City Hospital  Fukuchiyama City Kyoto Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshiyuki","family":"Yamamoto","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics Tokyo Women's Medical University  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,3,23]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.0b013e31822bead0"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2011.59"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.165"},{"key":"e_1_2_7_5_1","first-page":"95","article-title":"Possibility of early diagnosis in a fetus affected by Prader\u2010Willi syndrome with maternal hetero\u2010UPD15: a lesson to be learned","volume":"20","author":"Dong Y","year":"2019","journal-title":"Mol Med Rep"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(00)90076-3"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-007-0539-3"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5518"},{"key":"e_1_2_7_9_1","first-page":"98","article-title":"Uniparental disomy in Robertsonian translocations: strategies for uniparental disomy testing","volume":"3","author":"Yip M\u2010Y","year":"2014","journal-title":"Transl Pediatr"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/jog.14268"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31505"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4539"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61801"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.04.006"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2016.07.016"}],"container-title":["Journal of Obstetrics and Gynaecology Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jog.15236","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/jog.15236","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jog.15236","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,22]],"date-time":"2023-08-22T22:47:38Z","timestamp":1692744458000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1111\/jog.15236"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,3,23]]},"references-count":14,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2022,8]]}},"alternative-id":["10.1111\/jog.15236"],"URL":"https:\/\/doi.org\/10.1111\/jog.15236","archive":["Portico"],"relation":{},"ISSN":["1341-8076","1447-0756"],"issn-type":[{"value":"1341-8076","type":"print"},{"value":"1447-0756","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,3,23]]},"assertion":[{"value":"2021-09-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-03-14","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-03-23","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}