Array-CGH analysis of cell-free fetal DNA in 10 mL of amniotic fluid supernatant
Background Previously, we showed that analysis of amniotic fluid (AF) supernatant cell‐free fetal (cff) DNA using DNA microarrays (array‐CGH) allows for detection of whole chromosome differences between test and reference DNA. Subsequent technical advances have increased both the yield and quality o...
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| Veröffentlicht in: | Prenatal diagnosis 2007-07, Vol.27 (7), p.616-621 |
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| creator | Lapaire, Olav Lu, Xin-Yan Johnson, Kirby L. Jarrah, Zina Stroh, Helene Cowan, Janet M. Tantravahi, Umadevi Bianchi, Diana W. |
| description | Background
Previously, we showed that analysis of amniotic fluid (AF) supernatant cell‐free fetal (cff) DNA using DNA microarrays (array‐CGH) allows for detection of whole chromosome differences between test and reference DNA. Subsequent technical advances have increased both the yield and quality of extracted cffDNA. Here we determined whether array‐CGH using smaller volumes of both fresh and frozen AF cffDNA could identify fetal aneuploidy.
Methods
CffDNA was extracted from 10 mL of residual AF supernatant. The test AF samples (n = 10) included one with a normal karyotype, and nine with the following fetal aneuploidies: trisomies 13 (n = 1), 18 (n = 3), 21 (n = 2), trisomy 9 mosaicism (47,XX,+ 9[18]/46,XX[2]), triploidy (69,XXY) and Turner syndrome (45,X).
Results
Array‐CGH using AF cffDNA from aneuploid fetuses, compared to euploid reference AF cffDNA, detected whole chromosome aneuploidy in 8 of 9 cases tested, including the case of trisomy 9 mosaicism. The case of triploidy was not detected.
Conclusions
CffDNA extracted from 10 mL AF supernatant can be analyzed using array‐CGH to correctly identify human chromosome abnormalities. This technology allows for rapid screening of AF samples for whole chromosomal changes by using routinely discarded supernatant, and may augment standard prenatal karyotyping techniques by providing additional molecular information. Copyright © 2007 John Wiley & Sons, Ltd. |
| doi_str_mv | 10.1002/pd.1752 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_70705213</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>70705213</sourcerecordid><originalsourceid>FETCH-LOGICAL-c3832-d91ac6e2fe348f67135a03c2a6c67fc83e19e141c9e90c924d9a5d398e788df03</originalsourceid><addsrcrecordid>eNp10F1rFDEUBuBQlHZbxX8gudFelKn52Jkkl8vWboW1VtlS8CYcMycQna8mM-j--86wQ3vlVQ7k4T2Hl5B3nF1yxsSnrrzkKhdHZMGZURkTQr4iC8bHWeqcn5DTlH6PUAujjsnJaEcn5ILcrWKEfbbe3FBooNqnkGjrqcOqynxEpB57qOjV7YqGhnJG6-30D3UT2j446qshlDQNHcYGemj6N-S1hyrh2_k9I_fXn3frm2z7bfNlvdpmTmopstJwcAUKj3KpfaG4zIFJJ6BwhfJOS-QG-ZI7g4Y5I5algbyURqPSuvRMnpGPh9wuto8Dpt7WIU1nQ4PtkKxiiuWCyxGeH6CLbUoRve1iqCHuLWd2Ks92pZ3KG-X7OXL4VWP54ua2RvBhBpAcVD5C40J6cdowXiynoIuD-xsq3P9vn727mtdmBx1Sj_-eNcQ_tlBS5fbhdmO__jBqt_up7Hf5BFg3kPY</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>70705213</pqid></control><display><type>article</type><title>Array-CGH analysis of cell-free fetal DNA in 10 mL of amniotic fluid supernatant</title><source>MEDLINE</source><source>Access via Wiley Online Library</source><creator>Lapaire, Olav ; Lu, Xin-Yan ; Johnson, Kirby L. ; Jarrah, Zina ; Stroh, Helene ; Cowan, Janet M. ; Tantravahi, Umadevi ; Bianchi, Diana W.</creator><creatorcontrib>Lapaire, Olav ; Lu, Xin-Yan ; Johnson, Kirby L. ; Jarrah, Zina ; Stroh, Helene ; Cowan, Janet M. ; Tantravahi, Umadevi ; Bianchi, Diana W.</creatorcontrib><description>Background
Previously, we showed that analysis of amniotic fluid (AF) supernatant cell‐free fetal (cff) DNA using DNA microarrays (array‐CGH) allows for detection of whole chromosome differences between test and reference DNA. Subsequent technical advances have increased both the yield and quality of extracted cffDNA. Here we determined whether array‐CGH using smaller volumes of both fresh and frozen AF cffDNA could identify fetal aneuploidy.
Methods
CffDNA was extracted from 10 mL of residual AF supernatant. The test AF samples (n = 10) included one with a normal karyotype, and nine with the following fetal aneuploidies: trisomies 13 (n = 1), 18 (n = 3), 21 (n = 2), trisomy 9 mosaicism (47,XX,+ 9[18]/46,XX[2]), triploidy (69,XXY) and Turner syndrome (45,X).
Results
Array‐CGH using AF cffDNA from aneuploid fetuses, compared to euploid reference AF cffDNA, detected whole chromosome aneuploidy in 8 of 9 cases tested, including the case of trisomy 9 mosaicism. The case of triploidy was not detected.
Conclusions
CffDNA extracted from 10 mL AF supernatant can be analyzed using array‐CGH to correctly identify human chromosome abnormalities. This technology allows for rapid screening of AF samples for whole chromosomal changes by using routinely discarded supernatant, and may augment standard prenatal karyotyping techniques by providing additional molecular information. Copyright © 2007 John Wiley & Sons, Ltd.</description><identifier>ISSN: 0197-3851</identifier><identifier>EISSN: 1097-0223</identifier><identifier>DOI: 10.1002/pd.1752</identifier><identifier>PMID: 17510923</identifier><identifier>CODEN: PRDIDM</identifier><language>eng</language><publisher>Chichester, UK: John Wiley & Sons, Ltd</publisher><subject>Amniotic Fluid - chemistry ; amniotic fluid supernatant ; array-CGH ; Biological and medical sciences ; cell-free fetal DNA ; DNA - analysis ; Fundamental and applied biological sciences. Psychology ; Gynecology. Andrology. Obstetrics ; Humans ; Management. Prenatal diagnosis ; Medical sciences ; Molecular and cellular biology ; Oligonucleotide Array Sequence Analysis ; Ploidies ; Pregnancy. Fetus. Placenta ; prenatal diagnosis ; Prenatal Diagnosis - methods ; Specimen Handling ; Trisomy - diagnosis ; Turner Syndrome - diagnosis</subject><ispartof>Prenatal diagnosis, 2007-07, Vol.27 (7), p.616-621</ispartof><rights>Copyright © 2007 John Wiley & Sons, Ltd.</rights><rights>2007 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3832-d91ac6e2fe348f67135a03c2a6c67fc83e19e141c9e90c924d9a5d398e788df03</citedby><cites>FETCH-LOGICAL-c3832-d91ac6e2fe348f67135a03c2a6c67fc83e19e141c9e90c924d9a5d398e788df03</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%2Fpd.1752$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fpd.1752$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=18901642$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/17510923$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Lapaire, Olav</creatorcontrib><creatorcontrib>Lu, Xin-Yan</creatorcontrib><creatorcontrib>Johnson, Kirby L.</creatorcontrib><creatorcontrib>Jarrah, Zina</creatorcontrib><creatorcontrib>Stroh, Helene</creatorcontrib><creatorcontrib>Cowan, Janet M.</creatorcontrib><creatorcontrib>Tantravahi, Umadevi</creatorcontrib><creatorcontrib>Bianchi, Diana W.</creatorcontrib><title>Array-CGH analysis of cell-free fetal DNA in 10 mL of amniotic fluid supernatant</title><title>Prenatal diagnosis</title><addtitle>Prenat. Diagn</addtitle><description>Background
Previously, we showed that analysis of amniotic fluid (AF) supernatant cell‐free fetal (cff) DNA using DNA microarrays (array‐CGH) allows for detection of whole chromosome differences between test and reference DNA. Subsequent technical advances have increased both the yield and quality of extracted cffDNA. Here we determined whether array‐CGH using smaller volumes of both fresh and frozen AF cffDNA could identify fetal aneuploidy.
Methods
CffDNA was extracted from 10 mL of residual AF supernatant. The test AF samples (n = 10) included one with a normal karyotype, and nine with the following fetal aneuploidies: trisomies 13 (n = 1), 18 (n = 3), 21 (n = 2), trisomy 9 mosaicism (47,XX,+ 9[18]/46,XX[2]), triploidy (69,XXY) and Turner syndrome (45,X).
Results
Array‐CGH using AF cffDNA from aneuploid fetuses, compared to euploid reference AF cffDNA, detected whole chromosome aneuploidy in 8 of 9 cases tested, including the case of trisomy 9 mosaicism. The case of triploidy was not detected.
Conclusions
CffDNA extracted from 10 mL AF supernatant can be analyzed using array‐CGH to correctly identify human chromosome abnormalities. This technology allows for rapid screening of AF samples for whole chromosomal changes by using routinely discarded supernatant, and may augment standard prenatal karyotyping techniques by providing additional molecular information. Copyright © 2007 John Wiley & Sons, Ltd.</description><subject>Amniotic Fluid - chemistry</subject><subject>amniotic fluid supernatant</subject><subject>array-CGH</subject><subject>Biological and medical sciences</subject><subject>cell-free fetal DNA</subject><subject>DNA - analysis</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Humans</subject><subject>Management. Prenatal diagnosis</subject><subject>Medical sciences</subject><subject>Molecular and cellular biology</subject><subject>Oligonucleotide Array Sequence Analysis</subject><subject>Ploidies</subject><subject>Pregnancy. Fetus. Placenta</subject><subject>prenatal diagnosis</subject><subject>Prenatal Diagnosis - methods</subject><subject>Specimen Handling</subject><subject>Trisomy - diagnosis</subject><subject>Turner Syndrome - diagnosis</subject><issn>0197-3851</issn><issn>1097-0223</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2007</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp10F1rFDEUBuBQlHZbxX8gudFelKn52Jkkl8vWboW1VtlS8CYcMycQna8mM-j--86wQ3vlVQ7k4T2Hl5B3nF1yxsSnrrzkKhdHZMGZURkTQr4iC8bHWeqcn5DTlH6PUAujjsnJaEcn5ILcrWKEfbbe3FBooNqnkGjrqcOqynxEpB57qOjV7YqGhnJG6-30D3UT2j446qshlDQNHcYGemj6N-S1hyrh2_k9I_fXn3frm2z7bfNlvdpmTmopstJwcAUKj3KpfaG4zIFJJ6BwhfJOS-QG-ZI7g4Y5I5algbyURqPSuvRMnpGPh9wuto8Dpt7WIU1nQ4PtkKxiiuWCyxGeH6CLbUoRve1iqCHuLWd2Ks92pZ3KG-X7OXL4VWP54ua2RvBhBpAcVD5C40J6cdowXiynoIuD-xsq3P9vn727mtdmBx1Sj_-eNcQ_tlBS5fbhdmO__jBqt_up7Hf5BFg3kPY</recordid><startdate>200707</startdate><enddate>200707</enddate><creator>Lapaire, Olav</creator><creator>Lu, Xin-Yan</creator><creator>Johnson, Kirby L.</creator><creator>Jarrah, Zina</creator><creator>Stroh, Helene</creator><creator>Cowan, Janet M.</creator><creator>Tantravahi, Umadevi</creator><creator>Bianchi, Diana W.</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>200707</creationdate><title>Array-CGH analysis of cell-free fetal DNA in 10 mL of amniotic fluid supernatant</title><author>Lapaire, Olav ; Lu, Xin-Yan ; Johnson, Kirby L. ; Jarrah, Zina ; Stroh, Helene ; Cowan, Janet M. ; Tantravahi, Umadevi ; Bianchi, Diana W.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3832-d91ac6e2fe348f67135a03c2a6c67fc83e19e141c9e90c924d9a5d398e788df03</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2007</creationdate><topic>Amniotic Fluid - chemistry</topic><topic>amniotic fluid supernatant</topic><topic>array-CGH</topic><topic>Biological and medical sciences</topic><topic>cell-free fetal DNA</topic><topic>DNA - analysis</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Humans</topic><topic>Management. Prenatal diagnosis</topic><topic>Medical sciences</topic><topic>Molecular and cellular biology</topic><topic>Oligonucleotide Array Sequence Analysis</topic><topic>Ploidies</topic><topic>Pregnancy. Fetus. Placenta</topic><topic>prenatal diagnosis</topic><topic>Prenatal Diagnosis - methods</topic><topic>Specimen Handling</topic><topic>Trisomy - diagnosis</topic><topic>Turner Syndrome - diagnosis</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Lapaire, Olav</creatorcontrib><creatorcontrib>Lu, Xin-Yan</creatorcontrib><creatorcontrib>Johnson, Kirby L.</creatorcontrib><creatorcontrib>Jarrah, Zina</creatorcontrib><creatorcontrib>Stroh, Helene</creatorcontrib><creatorcontrib>Cowan, Janet M.</creatorcontrib><creatorcontrib>Tantravahi, Umadevi</creatorcontrib><creatorcontrib>Bianchi, Diana W.</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>Lapaire, Olav</au><au>Lu, Xin-Yan</au><au>Johnson, Kirby L.</au><au>Jarrah, Zina</au><au>Stroh, Helene</au><au>Cowan, Janet M.</au><au>Tantravahi, Umadevi</au><au>Bianchi, Diana W.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Array-CGH analysis of cell-free fetal DNA in 10 mL of amniotic fluid supernatant</atitle><jtitle>Prenatal diagnosis</jtitle><addtitle>Prenat. Diagn</addtitle><date>2007-07</date><risdate>2007</risdate><volume>27</volume><issue>7</issue><spage>616</spage><epage>621</epage><pages>616-621</pages><issn>0197-3851</issn><eissn>1097-0223</eissn><coden>PRDIDM</coden><abstract>Background
Previously, we showed that analysis of amniotic fluid (AF) supernatant cell‐free fetal (cff) DNA using DNA microarrays (array‐CGH) allows for detection of whole chromosome differences between test and reference DNA. Subsequent technical advances have increased both the yield and quality of extracted cffDNA. Here we determined whether array‐CGH using smaller volumes of both fresh and frozen AF cffDNA could identify fetal aneuploidy.
Methods
CffDNA was extracted from 10 mL of residual AF supernatant. The test AF samples (n = 10) included one with a normal karyotype, and nine with the following fetal aneuploidies: trisomies 13 (n = 1), 18 (n = 3), 21 (n = 2), trisomy 9 mosaicism (47,XX,+ 9[18]/46,XX[2]), triploidy (69,XXY) and Turner syndrome (45,X).
Results
Array‐CGH using AF cffDNA from aneuploid fetuses, compared to euploid reference AF cffDNA, detected whole chromosome aneuploidy in 8 of 9 cases tested, including the case of trisomy 9 mosaicism. The case of triploidy was not detected.
Conclusions
CffDNA extracted from 10 mL AF supernatant can be analyzed using array‐CGH to correctly identify human chromosome abnormalities. This technology allows for rapid screening of AF samples for whole chromosomal changes by using routinely discarded supernatant, and may augment standard prenatal karyotyping techniques by providing additional molecular information. Copyright © 2007 John Wiley & Sons, Ltd.</abstract><cop>Chichester, UK</cop><pub>John Wiley & Sons, Ltd</pub><pmid>17510923</pmid><doi>10.1002/pd.1752</doi><tpages>6</tpages></addata></record> |
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| ispartof | Prenatal diagnosis, 2007-07, Vol.27 (7), p.616-621 |
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| source | MEDLINE; Access via Wiley Online Library |
| subjects | Amniotic Fluid - chemistry amniotic fluid supernatant array-CGH Biological and medical sciences cell-free fetal DNA DNA - analysis Fundamental and applied biological sciences. Psychology Gynecology. Andrology. Obstetrics Humans Management. Prenatal diagnosis Medical sciences Molecular and cellular biology Oligonucleotide Array Sequence Analysis Ploidies Pregnancy. Fetus. Placenta prenatal diagnosis Prenatal Diagnosis - methods Specimen Handling Trisomy - diagnosis Turner Syndrome - diagnosis |
| title | Array-CGH analysis of cell-free fetal DNA in 10 mL of amniotic fluid supernatant |
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