Loading…
A near false-negative finding of mosaic trisomy 21-a cautionary tale
We report the finding of a mosaic trisomy 21 restricted to the long‐term culture of chorionic villi and to one amniotic fluid culture which, if interpreted according to the standard rules for the authentication of mosaicism, would have resulted in a false‐negative result. The definitive diagnosis of...
Saved in:
| Published in: | Prenatal diagnosis 1998-07, Vol.18 (7), p.742-746 |
|---|---|
| Main Authors: | , , , , , , , , , |
| Format: | Article |
| Language: | English |
| Subjects: | |
| Online Access: | Get full text |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| cited_by | |
|---|---|
| cites | |
| container_end_page | 746 |
| container_issue | 7 |
| container_start_page | 742 |
| container_title | Prenatal diagnosis |
| container_volume | 18 |
| creator | Beverstock, G. C. Hansson, Kerstin Helderman-Van Den Enden, Apollonia T. J. M. Bröcker-Vriends, Annette Klumper, F. Bartelings, Margot Dobbe-Van Meerendonk, Willemijn Roosmalen, J. V. Kolkman, P. H. Kanhai, H. H. H. |
| description | We report the finding of a mosaic trisomy 21 restricted to the long‐term culture of chorionic villi and to one amniotic fluid culture which, if interpreted according to the standard rules for the authentication of mosaicism, would have resulted in a false‐negative result. The definitive diagnosis of mosaic Down syndrome was eventually confirmed by cordocentesis and by post‐abortion fibroblast cultures. © 1998 John Wiley & Sons, Ltd. |
| doi_str_mv | 10.1002/(SICI)1097-0223(199807)18:7<742::AID-PD337>3.0.CO;2-R |
| format | article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_73847625</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>73847625</sourcerecordid><originalsourceid>FETCH-LOGICAL-c4307-a9373a2e7d02b73a0f5d8f2b9f7d6dd7d04d05d0f297e905cc51bc81d8b387ee3</originalsourceid><addsrcrecordid>eNqFkNtv0zAUhy0EGt3gT0DKA0Lbg4svSWyXi1SlsFWa1mncHo8c25kMuYw4HfS_x12qvIDE0zk6l58-fQi9o2ROCWGvTz-ti_UZJUpgwhg_pUpJIs6oXIi3ImWLxXK9wtcrzsV7PifzYvOG4ZtHaDZ9PEYzQmPPZUafouMQvsdYyZQ4QkdKkDzP5AytlknrdJ9Uug4Ot-5WD_7eJZVvrW9vk65Kmi5ob5Kh96FrdgmjWCdGbwfftbrfJYOu3TP05OH_-aGeoC8fP3wuLvDl5nxdLC-xSTkRWCsuuGZOWMLK2JEqs7JipaqEza2N49SSzJIqMjpFMmMyWhpJrSy5FM7xE_RqzL3ru59bFwZofDCurnXrum0AwWUqcpbxCcD0XQi9q-Cu903EBUpgbxdgbxf2rmDvCka7QCUIiHYBol14sAscCBQbYHATc18cALZl4-yUetAZ9y8Pex2Mrqtet8aH6YxxppSi8ezrePbL1273F9t_0P5FNg5iMB6DfRjc7ylY9z8gF1xk8O3qHC6oSPl1RuGK_wHSpa87</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>73847625</pqid></control><display><type>article</type><title>A near false-negative finding of mosaic trisomy 21-a cautionary tale</title><source>Wiley-Blackwell Read & Publish Collection</source><creator>Beverstock, G. C. ; Hansson, Kerstin ; Helderman-Van Den Enden, Apollonia T. J. M. ; Bröcker-Vriends, Annette ; Klumper, F. ; Bartelings, Margot ; Dobbe-Van Meerendonk, Willemijn ; Roosmalen, J. V. ; Kolkman, P. H. ; Kanhai, H. H. H.</creator><creatorcontrib>Beverstock, G. C. ; Hansson, Kerstin ; Helderman-Van Den Enden, Apollonia T. J. M. ; Bröcker-Vriends, Annette ; Klumper, F. ; Bartelings, Margot ; Dobbe-Van Meerendonk, Willemijn ; Roosmalen, J. V. ; Kolkman, P. H. ; Kanhai, H. H. H.</creatorcontrib><description>We report the finding of a mosaic trisomy 21 restricted to the long‐term culture of chorionic villi and to one amniotic fluid culture which, if interpreted according to the standard rules for the authentication of mosaicism, would have resulted in a false‐negative result. The definitive diagnosis of mosaic Down syndrome was eventually confirmed by cordocentesis and by post‐abortion fibroblast cultures. © 1998 John Wiley & Sons, Ltd.</description><identifier>ISSN: 0197-3851</identifier><identifier>EISSN: 1097-0223</identifier><identifier>DOI: 10.1002/(SICI)1097-0223(199807)18:7<742::AID-PD337>3.0.CO;2-R</identifier><identifier>PMID: 9706658</identifier><identifier>CODEN: PRDIDM</identifier><language>eng</language><publisher>Chichester, UK: John Wiley & Sons, Ltd</publisher><subject>Adult ; Amniocentesis ; Amniotic Fluid - cytology ; Biological and medical sciences ; Cells, Cultured ; Chorionic Villi Sampling ; Cordocentesis ; CVS ; Down Syndrome - diagnosis ; False Negative Reactions ; Female ; Gynecology. Andrology. Obstetrics ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Management. Prenatal diagnosis ; Medical sciences ; Mosaicism ; Pregnancy ; Pregnancy. Fetus. Placenta ; trisomy 21 mosaicism</subject><ispartof>Prenatal diagnosis, 1998-07, Vol.18 (7), p.742-746</ispartof><rights>Copyright © 1998 John Wiley & Sons, Ltd.</rights><rights>1998 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=2329991$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9706658$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Beverstock, G. C.</creatorcontrib><creatorcontrib>Hansson, Kerstin</creatorcontrib><creatorcontrib>Helderman-Van Den Enden, Apollonia T. J. M.</creatorcontrib><creatorcontrib>Bröcker-Vriends, Annette</creatorcontrib><creatorcontrib>Klumper, F.</creatorcontrib><creatorcontrib>Bartelings, Margot</creatorcontrib><creatorcontrib>Dobbe-Van Meerendonk, Willemijn</creatorcontrib><creatorcontrib>Roosmalen, J. V.</creatorcontrib><creatorcontrib>Kolkman, P. H.</creatorcontrib><creatorcontrib>Kanhai, H. H. H.</creatorcontrib><title>A near false-negative finding of mosaic trisomy 21-a cautionary tale</title><title>Prenatal diagnosis</title><addtitle>Prenat. Diagn</addtitle><description>We report the finding of a mosaic trisomy 21 restricted to the long‐term culture of chorionic villi and to one amniotic fluid culture which, if interpreted according to the standard rules for the authentication of mosaicism, would have resulted in a false‐negative result. The definitive diagnosis of mosaic Down syndrome was eventually confirmed by cordocentesis and by post‐abortion fibroblast cultures. © 1998 John Wiley & Sons, Ltd.</description><subject>Adult</subject><subject>Amniocentesis</subject><subject>Amniotic Fluid - cytology</subject><subject>Biological and medical sciences</subject><subject>Cells, Cultured</subject><subject>Chorionic Villi Sampling</subject><subject>Cordocentesis</subject><subject>CVS</subject><subject>Down Syndrome - diagnosis</subject><subject>False Negative Reactions</subject><subject>Female</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Humans</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Karyotyping</subject><subject>Management. Prenatal diagnosis</subject><subject>Medical sciences</subject><subject>Mosaicism</subject><subject>Pregnancy</subject><subject>Pregnancy. Fetus. Placenta</subject><subject>trisomy 21 mosaicism</subject><issn>0197-3851</issn><issn>1097-0223</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1998</creationdate><recordtype>article</recordtype><recordid>eNqFkNtv0zAUhy0EGt3gT0DKA0Lbg4svSWyXi1SlsFWa1mncHo8c25kMuYw4HfS_x12qvIDE0zk6l58-fQi9o2ROCWGvTz-ti_UZJUpgwhg_pUpJIs6oXIi3ImWLxXK9wtcrzsV7PifzYvOG4ZtHaDZ9PEYzQmPPZUafouMQvsdYyZQ4QkdKkDzP5AytlknrdJ9Uug4Ot-5WD_7eJZVvrW9vk65Kmi5ob5Kh96FrdgmjWCdGbwfftbrfJYOu3TP05OH_-aGeoC8fP3wuLvDl5nxdLC-xSTkRWCsuuGZOWMLK2JEqs7JipaqEza2N49SSzJIqMjpFMmMyWhpJrSy5FM7xE_RqzL3ru59bFwZofDCurnXrum0AwWUqcpbxCcD0XQi9q-Cu903EBUpgbxdgbxf2rmDvCka7QCUIiHYBol14sAscCBQbYHATc18cALZl4-yUetAZ9y8Pex2Mrqtet8aH6YxxppSi8ezrePbL1273F9t_0P5FNg5iMB6DfRjc7ylY9z8gF1xk8O3qHC6oSPl1RuGK_wHSpa87</recordid><startdate>199807</startdate><enddate>199807</enddate><creator>Beverstock, G. C.</creator><creator>Hansson, Kerstin</creator><creator>Helderman-Van Den Enden, Apollonia T. J. M.</creator><creator>Bröcker-Vriends, Annette</creator><creator>Klumper, F.</creator><creator>Bartelings, Margot</creator><creator>Dobbe-Van Meerendonk, Willemijn</creator><creator>Roosmalen, J. V.</creator><creator>Kolkman, P. H.</creator><creator>Kanhai, H. H. H.</creator><general>John Wiley & Sons, Ltd</general><general>Wiley</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>199807</creationdate><title>A near false-negative finding of mosaic trisomy 21-a cautionary tale</title><author>Beverstock, G. C. ; Hansson, Kerstin ; Helderman-Van Den Enden, Apollonia T. J. M. ; Bröcker-Vriends, Annette ; Klumper, F. ; Bartelings, Margot ; Dobbe-Van Meerendonk, Willemijn ; Roosmalen, J. V. ; Kolkman, P. H. ; Kanhai, H. H. H.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4307-a9373a2e7d02b73a0f5d8f2b9f7d6dd7d04d05d0f297e905cc51bc81d8b387ee3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1998</creationdate><topic>Adult</topic><topic>Amniocentesis</topic><topic>Amniotic Fluid - cytology</topic><topic>Biological and medical sciences</topic><topic>Cells, Cultured</topic><topic>Chorionic Villi Sampling</topic><topic>Cordocentesis</topic><topic>CVS</topic><topic>Down Syndrome - diagnosis</topic><topic>False Negative Reactions</topic><topic>Female</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Humans</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>Karyotyping</topic><topic>Management. Prenatal diagnosis</topic><topic>Medical sciences</topic><topic>Mosaicism</topic><topic>Pregnancy</topic><topic>Pregnancy. Fetus. Placenta</topic><topic>trisomy 21 mosaicism</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Beverstock, G. C.</creatorcontrib><creatorcontrib>Hansson, Kerstin</creatorcontrib><creatorcontrib>Helderman-Van Den Enden, Apollonia T. J. M.</creatorcontrib><creatorcontrib>Bröcker-Vriends, Annette</creatorcontrib><creatorcontrib>Klumper, F.</creatorcontrib><creatorcontrib>Bartelings, Margot</creatorcontrib><creatorcontrib>Dobbe-Van Meerendonk, Willemijn</creatorcontrib><creatorcontrib>Roosmalen, J. V.</creatorcontrib><creatorcontrib>Kolkman, P. H.</creatorcontrib><creatorcontrib>Kanhai, H. H. H.</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Prenatal diagnosis</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Beverstock, G. C.</au><au>Hansson, Kerstin</au><au>Helderman-Van Den Enden, Apollonia T. J. M.</au><au>Bröcker-Vriends, Annette</au><au>Klumper, F.</au><au>Bartelings, Margot</au><au>Dobbe-Van Meerendonk, Willemijn</au><au>Roosmalen, J. V.</au><au>Kolkman, P. H.</au><au>Kanhai, H. H. H.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A near false-negative finding of mosaic trisomy 21-a cautionary tale</atitle><jtitle>Prenatal diagnosis</jtitle><addtitle>Prenat. Diagn</addtitle><date>1998-07</date><risdate>1998</risdate><volume>18</volume><issue>7</issue><spage>742</spage><epage>746</epage><pages>742-746</pages><issn>0197-3851</issn><eissn>1097-0223</eissn><coden>PRDIDM</coden><abstract>We report the finding of a mosaic trisomy 21 restricted to the long‐term culture of chorionic villi and to one amniotic fluid culture which, if interpreted according to the standard rules for the authentication of mosaicism, would have resulted in a false‐negative result. The definitive diagnosis of mosaic Down syndrome was eventually confirmed by cordocentesis and by post‐abortion fibroblast cultures. © 1998 John Wiley & Sons, Ltd.</abstract><cop>Chichester, UK</cop><pub>John Wiley & Sons, Ltd</pub><pmid>9706658</pmid><doi>10.1002/(SICI)1097-0223(199807)18:7<742::AID-PD337>3.0.CO;2-R</doi><tpages>5</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0197-3851 |
| ispartof | Prenatal diagnosis, 1998-07, Vol.18 (7), p.742-746 |
| issn | 0197-3851 1097-0223 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_73847625 |
| source | Wiley-Blackwell Read & Publish Collection |
| subjects | Adult Amniocentesis Amniotic Fluid - cytology Biological and medical sciences Cells, Cultured Chorionic Villi Sampling Cordocentesis CVS Down Syndrome - diagnosis False Negative Reactions Female Gynecology. Andrology. Obstetrics Humans In Situ Hybridization, Fluorescence Karyotyping Management. Prenatal diagnosis Medical sciences Mosaicism Pregnancy Pregnancy. Fetus. Placenta trisomy 21 mosaicism |
| title | A near false-negative finding of mosaic trisomy 21-a cautionary tale |
| url | http://sfxeu10.hosted.exlibrisgroup.com/loughborough?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-28T11%3A56%3A58IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=A%20near%20false-negative%20finding%20of%20mosaic%20trisomy%2021-a%20cautionary%20tale&rft.jtitle=Prenatal%20diagnosis&rft.au=Beverstock,%20G.%20C.&rft.date=1998-07&rft.volume=18&rft.issue=7&rft.spage=742&rft.epage=746&rft.pages=742-746&rft.issn=0197-3851&rft.eissn=1097-0223&rft.coden=PRDIDM&rft_id=info:doi/10.1002/(SICI)1097-0223(199807)18:7%3C742::AID-PD337%3E3.0.CO;2-R&rft_dat=%3Cproquest_cross%3E73847625%3C/proquest_cross%3E%3Cgrp_id%3Ecdi_FETCH-LOGICAL-c4307-a9373a2e7d02b73a0f5d8f2b9f7d6dd7d04d05d0f297e905cc51bc81d8b387ee3%3C/grp_id%3E%3Coa%3E%3C/oa%3E%3Curl%3E%3C/url%3E&rft_id=info:oai/&rft_pqid=73847625&rft_id=info:pmid/9706658&rfr_iscdi=true |