{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T18:10:09Z","timestamp":1745431809137,"version":"3.40.4"},"reference-count":26,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cytogenet Genome Res"],"published-print":{"date-parts":[[2014]]},"abstract":"<jats:p>We report on our experience of studying amniotic fluid cells by cytogenetic analysis (CA) of the first 2 clones. We investigated the incidence and types of chromosome aberrations detected by CA of 196 amniocenteses performed on pregnant women at high risk. Of these cases, 178 were analysed by QF-PCR (risk group A). The results were compared with the data obtained by CA of 1,263 amniocenteses carried out in patients with other indications. QF-PCR was used to investigate 1,030 of these cases (risk group B). The combined average turnaround time for a CA result of the first 2 clones in both risk groups was within 9 \u00b1 2 days. The final CA results (\u22656 clones) were obtained within 12 \u00b1 4 days. In risk group A, CA was not possible in 2 cases due to cell culture failure. The foetal karyotype was abnormal in 13.8% of the cases by CA of \u22656 clones and in 13.5% of the cases by QF-PCR. Together, CA of \u22656 clones and QF-PCR detected chromosome aberrations in 14.8% of the cases. With the exception of 2 cases of in vitro culture failure and 1 case with low gonosomal mosaicism, CA of the first 2 clones detected all cases with chromosome aberrations. Five cases with clinically significant chromosome aberrations were not detected by QF-PCR. In risk group B, the foetal karyotype was found to be abnormal in 2.2% of the cases by CA of \u22656 clones and in 1.0% of the cases by QF-PCR. Together, CA of \u22656 clones and QF-PCR revealed chromosome aberrations in 2.2% of the cases. With the exception of 1 case with low gonosomal mosaicism, CA of the first 2 clones detected all other cases with chromosome aberrations. The majority of these cases were inherited chromosome aberrations. Eighteen cases with chromosome aberrations were not detected by QF-PCR. Based on our results, CA of \u22656 clones, together with QF-PCR as a first test, should be performed in all prenatal cases with abnormal ultrasound findings. In pregnancies with other indications, CA of the first 2 clones alone is sufficient to identify all clinically significant (and inherited) chromosome aberrations.<\/jats:p>","DOI":"10.1159\/000362524","type":"journal-article","created":{"date-parts":[[2014,6,3]],"date-time":"2014-06-03T06:58:17Z","timestamp":1401778697000},"page":"239-244","source":"Crossref","is-referenced-by-count":1,"title":["Chromosome Aberrations Identified by Cytogenetic Analysis of the First Two Clones of Cultured Amniotic Fluid Cells Compared with QF-PCR Results"],"prefix":"10.1159","volume":"142","author":[{"given":"Jutta","family":"Jenderny","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Winfried","family":"Schmidt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lothar","family":"Kochhan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2014,5,16]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(01)06229-8"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1093\/molehr\/7.10.1001"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1093\/molehr\/gah108"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1196\/annals.1368.039"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970141109"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1093\/med\/9780195375336.001.0001"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002\/pd.2503"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970110103"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970120702"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1046\/j.1469-0705.2001.00340.x"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1002\/pd.2945"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(01)06183-9"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1002\/pd.3986"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.1.43"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1007\/BF01213097"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1369\/jhc.4B6409.2005"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-0528.2005.00695.x"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1002\/pd.3888"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(94)92404-X"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1093\/molehr\/5.12.1176"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1121"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1093\/molehr\/6.9.855"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970141107"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1002\/pd.2716"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(97)11090-X"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199911)19:11<1023::AID-PD690>3.0.CO;2-J"}],"container-title":["Cytogenetic and Genome Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/362524","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/362524","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T17:39:52Z","timestamp":1745429992000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000362524"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014]]},"references-count":26,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2014,6,1]]},"published-print":{"date-parts":[[2014,6,10]]}},"URL":"https:\/\/doi.org\/10.1159\/000362524","archive":["Portico"],"relation":{},"ISSN":["1424-8581","1424-859X"],"issn-type":[{"type":"print","value":"1424-8581"},{"type":"electronic","value":"1424-859X"}],"subject":[],"published":{"date-parts":[[2014]]}}}