Prenatal microarray analysis as second‐tier diagnostic test: single‐center prospective study
ABSTRACT Objective To evaluate the usefulness of chromosome microarrays as a second‐tier test in prenatal genetic testing. Methods We prospectively analyzed 75 high‐risk pregnancies undergoing invasive prenatal genetic testing in which the karyotype either was normal or had findings other than a com...
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| Veröffentlicht in: | Ultrasound in obstetrics & gynecology 2013-03, Vol.41 (3), p.267-273 |
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| creator | Schmid, M. Stary, S. Springer, S. Bettelheim, D. Husslein, P. Streubel, B. |
| description | ABSTRACT
Objective
To evaluate the usefulness of chromosome microarrays as a second‐tier test in prenatal genetic testing.
Methods
We prospectively analyzed 75 high‐risk pregnancies undergoing invasive prenatal genetic testing in which the karyotype either was normal or had findings other than a common non‐mosaic autosomal aneuploidy.
Results
Chromosomal microarray analysis (CMA) was performed successfully in all cases. Pathological copy‐number variations (CNVs) explaining the phenotypes were found in 11 cases (14.7%). Four cases were detected with an unbalanced translocation. In three of these cases, subsequent genetic analysis demonstrated that a parent was an unknown carrier of a balanced translocation. Among the 67 cases with normal karyo‐types, submicroscopic rearrangements with pathological significance were detected in five (7.5%) and CNVs of unclear significance were detected in one (1.5%). CMA was able to discriminate correctly between true mosaicism and confined or pseudomosaicism in all six mosaic cases.
Conclusion
CMA is a valuable second‐tier test in high‐risk pregnancies for which identification or further delineation of genetic aberrations is important. Its higher resolution results in a higher detection rate of aberrant cases, with a clear clinical benefit for estimation of risk of recurrence. Copyright © 2013 ISUOG. Published by John Wiley & Sons, Ltd. |
| doi_str_mv | 10.1002/uog.12389 |
| format | Article |
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Objective
To evaluate the usefulness of chromosome microarrays as a second‐tier test in prenatal genetic testing.
Methods
We prospectively analyzed 75 high‐risk pregnancies undergoing invasive prenatal genetic testing in which the karyotype either was normal or had findings other than a common non‐mosaic autosomal aneuploidy.
Results
Chromosomal microarray analysis (CMA) was performed successfully in all cases. Pathological copy‐number variations (CNVs) explaining the phenotypes were found in 11 cases (14.7%). Four cases were detected with an unbalanced translocation. In three of these cases, subsequent genetic analysis demonstrated that a parent was an unknown carrier of a balanced translocation. Among the 67 cases with normal karyo‐types, submicroscopic rearrangements with pathological significance were detected in five (7.5%) and CNVs of unclear significance were detected in one (1.5%). CMA was able to discriminate correctly between true mosaicism and confined or pseudomosaicism in all six mosaic cases.
Conclusion
CMA is a valuable second‐tier test in high‐risk pregnancies for which identification or further delineation of genetic aberrations is important. Its higher resolution results in a higher detection rate of aberrant cases, with a clear clinical benefit for estimation of risk of recurrence. Copyright © 2013 ISUOG. Published by John Wiley & Sons, Ltd.</description><identifier>ISSN: 0960-7692</identifier><identifier>EISSN: 1469-0705</identifier><identifier>DOI: 10.1002/uog.12389</identifier><identifier>PMID: 23292918</identifier><identifier>CODEN: UOGYFJ</identifier><language>eng</language><publisher>Chichester, UK: John Wiley & Sons, Ltd</publisher><subject>Chromosome Aberrations ; Chromosome Disorders - diagnosis ; Chromosome Disorders - genetics ; Female ; Fetal Diseases - diagnosis ; Fetal Diseases - genetics ; fetus ; genetic testing ; Genetic Testing - methods ; Humans ; Karyotype ; Karyotyping - methods ; microarray ; Microarray Analysis - methods ; mosaicism ; Pregnancy ; prenatal diagnosis ; Prenatal Diagnosis - methods ; Prospective Studies</subject><ispartof>Ultrasound in obstetrics & gynecology, 2013-03, Vol.41 (3), p.267-273</ispartof><rights>Copyright © 2013 ISUOG. Published by John Wiley & Sons, Ltd.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4219-a458cdab49f90e2b19dc0bf440a4a590c02d4aab53ddfff6b585d75ef671fe223</citedby><cites>FETCH-LOGICAL-c4219-a458cdab49f90e2b19dc0bf440a4a590c02d4aab53ddfff6b585d75ef671fe223</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fuog.12389$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fuog.12389$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,1433,27924,27925,45574,45575,46409,46833</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/23292918$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Schmid, M.</creatorcontrib><creatorcontrib>Stary, S.</creatorcontrib><creatorcontrib>Springer, S.</creatorcontrib><creatorcontrib>Bettelheim, D.</creatorcontrib><creatorcontrib>Husslein, P.</creatorcontrib><creatorcontrib>Streubel, B.</creatorcontrib><title>Prenatal microarray analysis as second‐tier diagnostic test: single‐center prospective study</title><title>Ultrasound in obstetrics & gynecology</title><addtitle>Ultrasound Obstet Gynecol</addtitle><description>ABSTRACT
Objective
To evaluate the usefulness of chromosome microarrays as a second‐tier test in prenatal genetic testing.
Methods
We prospectively analyzed 75 high‐risk pregnancies undergoing invasive prenatal genetic testing in which the karyotype either was normal or had findings other than a common non‐mosaic autosomal aneuploidy.
Results
Chromosomal microarray analysis (CMA) was performed successfully in all cases. Pathological copy‐number variations (CNVs) explaining the phenotypes were found in 11 cases (14.7%). Four cases were detected with an unbalanced translocation. In three of these cases, subsequent genetic analysis demonstrated that a parent was an unknown carrier of a balanced translocation. Among the 67 cases with normal karyo‐types, submicroscopic rearrangements with pathological significance were detected in five (7.5%) and CNVs of unclear significance were detected in one (1.5%). CMA was able to discriminate correctly between true mosaicism and confined or pseudomosaicism in all six mosaic cases.
Conclusion
CMA is a valuable second‐tier test in high‐risk pregnancies for which identification or further delineation of genetic aberrations is important. Its higher resolution results in a higher detection rate of aberrant cases, with a clear clinical benefit for estimation of risk of recurrence. Copyright © 2013 ISUOG. Published by John Wiley & Sons, Ltd.</description><subject>Chromosome Aberrations</subject><subject>Chromosome Disorders - diagnosis</subject><subject>Chromosome Disorders - genetics</subject><subject>Female</subject><subject>Fetal Diseases - diagnosis</subject><subject>Fetal Diseases - genetics</subject><subject>fetus</subject><subject>genetic testing</subject><subject>Genetic Testing - methods</subject><subject>Humans</subject><subject>Karyotype</subject><subject>Karyotyping - methods</subject><subject>microarray</subject><subject>Microarray Analysis - methods</subject><subject>mosaicism</subject><subject>Pregnancy</subject><subject>prenatal diagnosis</subject><subject>Prenatal Diagnosis - methods</subject><subject>Prospective Studies</subject><issn>0960-7692</issn><issn>1469-0705</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqF0b9u1EAQBvAVApEjUPACyBINFE5m_9pLh6IQkCKFgtRmvDt72shnH7s2yB2PwDPmSVhygQIJUU0xP30azcfYcw4nHECcLtP2hAvZ2gdsw5WxNTSgH7INWAN1Y6w4Yk9yvgEAo6R5zI6EFFZY3m7Y54-JRpxxqHbRpQlTwrXCEYc1x1xhrjK5afS333_MkVLlI27HKc_RVTPl-U2V47gdqKwdjXMB-zTlPbk5fqUqz4tfn7JHAYdMz-7nMbt-d_7p7H19eXXx4eztZe2U4LZGpVvnsVc2WCDRc-sd9EEpQIXaggPhFWKvpfchBNPrVvtGUzANDySEPGavDrnlgi9Lua3bxexoGHCkackdV1KBMBz0_6nkqrVaClnoy7_ozbSk8p471SgrjFJFvT6o8sGcE4Vun-IO09px6H411JWGuruGin1xn7j0O_J_5O9KCjg9gG9xoPXfSd311cUh8ifMNZ2X</recordid><startdate>201303</startdate><enddate>201303</enddate><creator>Schmid, M.</creator><creator>Stary, S.</creator><creator>Springer, S.</creator><creator>Bettelheim, D.</creator><creator>Husslein, P.</creator><creator>Streubel, B.</creator><general>John Wiley & Sons, Ltd</general><general>Wiley Subscription Services, Inc</general><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>7QO</scope><scope>8FD</scope><scope>FR3</scope><scope>K9.</scope><scope>P64</scope><scope>7X8</scope></search><sort><creationdate>201303</creationdate><title>Prenatal microarray analysis as second‐tier diagnostic test: single‐center prospective study</title><author>Schmid, M. ; Stary, S. ; Springer, S. ; Bettelheim, D. ; Husslein, P. ; Streubel, B.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4219-a458cdab49f90e2b19dc0bf440a4a590c02d4aab53ddfff6b585d75ef671fe223</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>Chromosome Aberrations</topic><topic>Chromosome Disorders - diagnosis</topic><topic>Chromosome Disorders - genetics</topic><topic>Female</topic><topic>Fetal Diseases - diagnosis</topic><topic>Fetal Diseases - genetics</topic><topic>fetus</topic><topic>genetic testing</topic><topic>Genetic Testing - methods</topic><topic>Humans</topic><topic>Karyotype</topic><topic>Karyotyping - methods</topic><topic>microarray</topic><topic>Microarray Analysis - methods</topic><topic>mosaicism</topic><topic>Pregnancy</topic><topic>prenatal diagnosis</topic><topic>Prenatal Diagnosis - methods</topic><topic>Prospective Studies</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Schmid, M.</creatorcontrib><creatorcontrib>Stary, S.</creatorcontrib><creatorcontrib>Springer, S.</creatorcontrib><creatorcontrib>Bettelheim, D.</creatorcontrib><creatorcontrib>Husslein, P.</creatorcontrib><creatorcontrib>Streubel, B.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Biotechnology Research Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Ultrasound in obstetrics & gynecology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Schmid, M.</au><au>Stary, S.</au><au>Springer, S.</au><au>Bettelheim, D.</au><au>Husslein, P.</au><au>Streubel, B.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Prenatal microarray analysis as second‐tier diagnostic test: single‐center prospective study</atitle><jtitle>Ultrasound in obstetrics & gynecology</jtitle><addtitle>Ultrasound Obstet Gynecol</addtitle><date>2013-03</date><risdate>2013</risdate><volume>41</volume><issue>3</issue><spage>267</spage><epage>273</epage><pages>267-273</pages><issn>0960-7692</issn><eissn>1469-0705</eissn><coden>UOGYFJ</coden><abstract>ABSTRACT
Objective
To evaluate the usefulness of chromosome microarrays as a second‐tier test in prenatal genetic testing.
Methods
We prospectively analyzed 75 high‐risk pregnancies undergoing invasive prenatal genetic testing in which the karyotype either was normal or had findings other than a common non‐mosaic autosomal aneuploidy.
Results
Chromosomal microarray analysis (CMA) was performed successfully in all cases. Pathological copy‐number variations (CNVs) explaining the phenotypes were found in 11 cases (14.7%). Four cases were detected with an unbalanced translocation. In three of these cases, subsequent genetic analysis demonstrated that a parent was an unknown carrier of a balanced translocation. Among the 67 cases with normal karyo‐types, submicroscopic rearrangements with pathological significance were detected in five (7.5%) and CNVs of unclear significance were detected in one (1.5%). CMA was able to discriminate correctly between true mosaicism and confined or pseudomosaicism in all six mosaic cases.
Conclusion
CMA is a valuable second‐tier test in high‐risk pregnancies for which identification or further delineation of genetic aberrations is important. Its higher resolution results in a higher detection rate of aberrant cases, with a clear clinical benefit for estimation of risk of recurrence. Copyright © 2013 ISUOG. Published by John Wiley & Sons, Ltd.</abstract><cop>Chichester, UK</cop><pub>John Wiley & Sons, Ltd</pub><pmid>23292918</pmid><doi>10.1002/uog.12389</doi><tpages>7</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Ultrasound in obstetrics & gynecology, 2013-03, Vol.41 (3), p.267-273 |
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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete; Wiley Free Content; EZB-FREE-00999 freely available EZB journals |
| subjects | Chromosome Aberrations Chromosome Disorders - diagnosis Chromosome Disorders - genetics Female Fetal Diseases - diagnosis Fetal Diseases - genetics fetus genetic testing Genetic Testing - methods Humans Karyotype Karyotyping - methods microarray Microarray Analysis - methods mosaicism Pregnancy prenatal diagnosis Prenatal Diagnosis - methods Prospective Studies |
| title | Prenatal microarray analysis as second‐tier diagnostic test: single‐center prospective study |
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