{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T16:28:16Z","timestamp":1758126496069},"reference-count":11,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,11,21]],"date-time":"2005-11-21T00:00:00Z","timestamp":1132531200000},"content-version":"vor","delay-in-days":7995,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[1984,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The frequency of mosaicism and pseudomosaicism in the prenatal diagnosis of cytogenetic disorders is reported, based on 3000 pregnancies studied in our laboratory. Diagnosis of true mosaicism was only made when an abnomality was detected in two or more independent cultures established from an amniotic fluid sample. On this basis, 0.37 per cent of all cases were diagnosed as true mosaics. 1.07 per cent of all cases had pseudomosaicism involving more than one cell from the same culture with an identical abnormality. 4.13 per cent of cases had a single abnormal cell with an extra chromosome, loss of a sex chromosome (or part of a sex chromosome), or translocation. Details of the outcome and follow\u2010up of cases is given.<\/jats:p><jats:p>Particularly problematical were cases where multiple cells from one culture contained an abnormality which could have been clinically significant. A crude estimate of the extent to which true mosaicism might currently be misinterpreted as pseudomosaicism or entirely missed has been made, based on data from the U.S. survey (Hsu and Perlis, in press). It was concluded that even when two, and if necessary a third culture is extensively analysed with an average of 24 cells per culture counted, at least 4.5 per cent of cases of true mosaicism may be completely missed and at least 7 per cent could be misdiagnosed as pseudomosaicism.<\/jats:p><jats:p>There is an urgent need for improved laboratory techniques which allow growth of a greater number of cell colonies and therefore a more broadly based analysis. Detailed long term follow\u2010up of prenatally diagnosed mosaics is also essential for assessing the clinical significance of the laboratory findings.<\/jats:p>","DOI":"10.1002\/pd.1970040102","type":"journal-article","created":{"date-parts":[[2007,3,3]],"date-time":"2007-03-03T23:31:51Z","timestamp":1172964711000},"page":"1-9","source":"Crossref","is-referenced-by-count":19,"title":["Prenatal diagnosis of chromosome mosaicism"],"prefix":"10.1002","volume":"4","author":[{"given":"Peter","family":"Benn","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lillian Y. F.","family":"Hsu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Theresa","family":"Perlis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amy","family":"Schonhaut","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,11,21]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1159\/000130804"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320140216"},{"key":"e_1_2_1_4_1","first-page":"3","article-title":"Le Clonage des cellules du liquide amniotique, aide dans l'interpretation des mosaiques chromosomiques en diagnostic prenatal","volume":"22","author":"Bou\u00e9 J.","year":"1979","journal-title":"Annal. Genet."},{"key":"e_1_2_1_5_1","unstructured":"Bui T. H. Iselius L. Linsten J.(in press). European collaborative study on prenatal diagnosis. Mosaicism pseudomosaicism and single abnormal cells in amniotic fluid cell cultures Prenat. diag."},{"key":"e_1_2_1_6_1","volume-title":"Advanced Algebra","author":"Durell C. V.","year":"1959"},{"key":"e_1_2_1_7_1","first-page":"94","article-title":"Exclusion of chromosome mosaicism: Tables of 90%, 95% and 99% confidence limits and comments on use","volume":"29","author":"Hook E. B.","year":"1977","journal-title":"Am. J. Hum. Genet."},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-12-751860-2.50013-9"},{"key":"e_1_2_1_9_1","unstructured":"Hsu L. Y. F. Perlis T.(in press). United States Survey on chromosome mosaicism and pseudomosaicism in prenatal diagnosis Prenat. Diagn."},{"key":"e_1_2_1_10_1","first-page":"178","article-title":"Comparison of cell cycle time in normal and trisomic cells","volume":"23","author":"Paton G. R.","year":"1974","journal-title":"Humangenetik"},{"key":"e_1_2_1_11_1","first-page":"258","volume-title":"Prenatal Diagnosis, Proceedings of 3rd European Conference on Prenatal Diagnosis of Genetic Disorders","author":"Therkelson A. J.","year":"1979"},{"key":"e_1_2_1_12_1","unstructured":"Worton R. G. Stern R.(in press). A Canadian Collaborative study of mosaicism in amniotic fluid cell cultures Prenat. diagn."}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.1970040102","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.1970040102","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,19]],"date-time":"2023-10-19T20:25:54Z","timestamp":1697747154000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.1970040102"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1984,1]]},"references-count":11,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1984,1]]}},"alternative-id":["10.1002\/pd.1970040102"],"URL":"https:\/\/doi.org\/10.1002\/pd.1970040102","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[1984,1]]}}}