{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T23:51:01Z","timestamp":1773791461350,"version":"3.50.1"},"reference-count":20,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,3,24]],"date-time":"2005-03-24T00:00:00Z","timestamp":1111622400000},"content-version":"vor","delay-in-days":23,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2005,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Trisomy 20 is one of the more common mosaic trisomies detected on amniocentesis and presents with a normal outcome in over 90% of reported cases. Trisomic cells are almost never confirmed in newborn blood and are only rarely found in other fetal or placental samples. Nonetheless, some abnormal outcomes have been reported, including unexplained fetal demise, intrauterine growth restriction, and multiple congenital anomalies. Because of the lack of molecular studies on such cases, it is unknown whether the origin of trisomy or presence of uniparental disomy (UPD) could have some influence on outcome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We present data on six cases of trisomy mosaicism, two detected by chorionic villous sampling (CVS) and four by amniocentesis (AF), submitted to our laboratory for molecular studies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results and Conclusions<\/jats:title><jats:p>A meiotic origin of the trisomy could be confirmed in only one of these cases. In addition, uniparental disomy was excluded in all four cases for which parents were available for testing. The four cases with low levels of trisomy in amniotic fluid (0%, 10%, 11%, and 12%) were associated with a normal outcome. The remaining two cases of trisomy 20 had high levels of trisomy in amniotic fluid (96% and 58%) and had abnormal outcomes (developmental delay in one and stillbirth with IUGR and severe oligohydramnios in the other). Including previously published cases, there is a clear association with the level of trisomy and outcome, with only 4% abnormal outcomes when &lt;40% trisomic cells were detected. Higher levels of trisomy were also observed in male fetuses as compared to female fetuses (<jats:italic>p<\/jats:italic> = 0.01); however, there were no sex differences in frequency of abnormal outcomes. Copyright \u00a9 2005 John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.1121","type":"journal-article","created":{"date-parts":[[2005,3,24]],"date-time":"2005-03-24T19:18:34Z","timestamp":1111691914000},"page":"239-244","source":"Crossref","is-referenced-by-count":40,"title":["Prenatally detected trisomy 20 mosaicism"],"prefix":"10.1002","volume":"25","author":[{"given":"W. P.","family":"Robinson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"McGillivray","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. E. S.","family":"Lewis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Arbour","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Barrett","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D. K.","family":"Kalousek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,3,24]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/aje\/153.4.332"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0293-146"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/320117"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200287"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.2.86"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-2280(1996)28:3<167::AID-EM2>3.0.CO;2-B"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02281877"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970110103"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970070809"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199610)16:10<893::AID-PD962>3.0.CO;2-M"},{"key":"e_1_2_1_12_1","first-page":"917","article-title":"A meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast and increased risk of fetal IUGR","volume":"60","author":"Robinson WP","year":"1997","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_13_1","first-page":"444","article-title":"Molecular studies of chromosomal mosaicism: relative frequency of chromosome gain or loss and possible role of cell seletion","volume":"56","author":"Robinson WP","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.158"},{"issue":"3","key":"e_1_2_1_15_1","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1111\/j.1399-0004.1985.tb00218.x","article-title":"Prenatal diagnosis of trisomy 20 mosaicism indicating esophageal and rectal origin","volume":"27","author":"Vejerslev LO","year":"1985","journal-title":"Clin Genet"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200867"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20430"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(200002)20:2<103::AID-PD761>3.0.CO;2-K"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(91)91436-X"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(200002)20:2<103::AID-PD761>3.0.CO;2-K"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9440(10)64567-1"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.1121","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.1121","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T19:53:13Z","timestamp":1700164393000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.1121"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,3]]},"references-count":20,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2005,3]]}},"alternative-id":["10.1002\/pd.1121"],"URL":"https:\/\/doi.org\/10.1002\/pd.1121","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,3]]}}}