{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T04:30:16Z","timestamp":1773030616634,"version":"3.50.1"},"reference-count":24,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2020,5,17]],"date-time":"2020-05-17T00:00:00Z","timestamp":1589673600000},"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":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2020,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To report genome\u2010wide cell\u2010free DNA (cfDNA) screening facilitating the diagnosis of Pallister\u2010Killian syndrome (PKS).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This is a retrospective cohort analysis of positive genome\u2010wide cfDNA screening results showing increased signal from chromosome 12 and the detection of PKS. The genome\u2010wide cfDNA screening results and the subsequent investigations were reviewed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Three singleton pregnancies (3\/29007) from 2016 to 2017 yielded positive results indicating large gains on the entire p\u2010arm of chromosome 12. In two cases, multiple structural abnormalities were detected by prenatal ultrasound and the couples opted for termination of pregnancy. Chromosomal microarray performed on fetal skin tissues of the two abortuses detected mosaic tetrasomy 12p, consistent with PKS. In the third case, karyotype and chromosomal microarray performed on an amniotic fluid sample also showed mosaic tetrasomy 12p. In each of the three cases, genome\u2010wide cfDNA screening revealed a large gain on chromosome 12p; subsequent prenatal or postnatal diagnostic testing confirmed the diagnosis of PKS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We report the ability of genome\u2010wide cfDNA screening to provide early suspicion and facilitate the subsequent genetic diagnosis of PKS. As genome\u2010wide cfDNA screening becomes increasingly available, incidental diagnosis of partial aneuploidies is expected to increase.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.5721","type":"journal-article","created":{"date-parts":[[2020,4,30]],"date-time":"2020-04-30T11:42:25Z","timestamp":1588246945000},"page":"1005-1012","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["The utility of genome\u2010wide cell\u2010free <scp>DNA<\/scp> screening in the prenatal diagnosis of <scp>Pallister\u2010Killian<\/scp> syndrome"],"prefix":"10.1002","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0945-1938","authenticated-orcid":false,"given":"Matthew Hoi Kin","family":"Chau","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynaecology The Chinese University of Hong Kong  Hong Kong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Doris Yuk Man","family":"Lam","sequence":"additional","affiliation":[{"name":"NIPT Department, NGS Lab, Xcelom Limited  Hong Kong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7303-1700","authenticated-orcid":false,"given":"Xiaofan","family":"Zhu","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology The Chinese University of Hong Kong  Hong Kong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yvonne Ka Yin","family":"Kwok","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology Prince of Wales Hospital  Shatin Hong Kong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuen Ha","family":"Ting","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology The Chinese University of Hong Kong  Hong Kong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wan Pang","family":"Chan","sequence":"additional","affiliation":[{"name":"Obstetrics &amp; Gynaecology Centre Hong Kong Sanatorium &amp; Hospital  Hong Kong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mengmeng","family":"Shi","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology The Chinese University of Hong Kong  Hong Kong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sunny Wai Hung","family":"Cheung","sequence":"additional","affiliation":[{"name":"NIPT Department, NGS Lab, Xcelom Limited  Hong Kong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tze Kin","family":"Lau","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology Prince of Wales Hospital  Shatin Hong Kong, China"},{"name":"Fetal Medicine Centre Paramount Medical Centre  Hong Kong 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