Noninvasive determination of fetal RHD status by examination of cell-free DNA in maternal plasma
BACKGROUND: Cell‐free fetal DNA in maternal plasma opens the way for routine risk‐free diagnosis of fetal D status of D– mothers. The focus was on accuracy of RHD typing and confirmation of fetal DNA in maternal plasma while RHD was not detected. STUDY DESIGN AND METHODS: Plasma DNA was extracted (b...
Gespeichert in:
| Veröffentlicht in: | Transfusion (Philadelphia, Pa.) Pa.), 2005-09, Vol.45 (9), p.1473-1480 |
|---|---|
| Hauptverfasser: | , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 1480 |
|---|---|
| container_issue | 9 |
| container_start_page | 1473 |
| container_title | Transfusion (Philadelphia, Pa.) |
| container_volume | 45 |
| creator | Brojer, E. Żupanska, B. Guz, K. Orziñska, A. Kaliñska, A. |
| description | BACKGROUND: Cell‐free fetal DNA in maternal plasma opens the way for routine risk‐free diagnosis of fetal D status of D– mothers. The focus was on accuracy of RHD typing and confirmation of fetal DNA in maternal plasma while RHD was not detected.
STUDY DESIGN AND METHODS: Plasma DNA was extracted (by manual and/or automatic method) from 255 D– pregnant women and amplified in exons 7 and 10 and intron 4 of RHD gene with real‐time polymerase chain reaction. The presence of fetal DNA was confirmed by testing SRY and, when negative, by one of 11 different polymorphisms found in the father but not in the mother. The results were compared with the D status of the newborns.
RESULTS: After exclusion of 25 cases (10%) because of material shortage, in 230 cases (90%) available for complete study, the predictive value of the procedure of fetal RHD testing (RHD genotyping plus confirmation of fetal DNA) was 99.6 percent. SRY detection confirmed fetal DNA presence in maternal plasma in all boys, whereas the detection of various polymorphisms in all girls but one.
CONCLUSIONS: Fetal RHD genotyping from maternal plasma may be used with confidence, although additional polymorphisms for confirmation of fetal DNA should be included for 100 percent predictive value (instead of 99.6%). |
| doi_str_mv | 10.1111/j.1537-2995.2005.00559.x |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_68537570</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>68537570</sourcerecordid><originalsourceid>FETCH-LOGICAL-c4369-b868f285be9abe6c8e859eefbe48ae63e26c6269e70022fad20d560d5804631a3</originalsourceid><addsrcrecordid>eNqNkE1vEzEQhi0EomnhLyBf4LaLP7Je-4JUpbRFCqFErXo0s5ux5LAfwd60yb_H20QtRyxZtuRnXs88hFDOcp7W53XOC1lmwpgiF4wVedqFyXevyOT54TWZMDblGedSnJDTGNeMMWEYf0tOuOKSS80m5Nei73z3ANE_IF3hgKH1HQy-72jvqMMBGrq8vqBxgGEbabWnuIN_kRqbJnMBkV4szqnvaAsppEtlmwZiC-_IGwdNxPfH84zcXX69nV1n8x9X32bn86yeSmWySivthC4qNFChqjXqwiC6CqcaUEkUqlZCGSzTEMLBSrBVodLWbKokB3lGPh1yN6H_s8U42NbHsTnosN9Gq3QSU5QsgfoA1qGPMaCzm-BbCHvLmR3t2rUdJdpRoh3t2ie7dpdKPxz_2FYtrl4KjzoT8PEIQKyhcQG62scXrmRGJzZxXw7co29w_98N2Nvl5dM1BWSHAB8H3D0HQPhtVZnmtPeLK7u8Ed9_zuba3si_1fmk9g</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>68537570</pqid></control><display><type>article</type><title>Noninvasive determination of fetal RHD status by examination of cell-free DNA in maternal plasma</title><source>MEDLINE</source><source>Access via Wiley Online Library</source><creator>Brojer, E. ; Żupanska, B. ; Guz, K. ; Orziñska, A. ; Kaliñska, A.</creator><creatorcontrib>Brojer, E. ; Żupanska, B. ; Guz, K. ; Orziñska, A. ; Kaliñska, A.</creatorcontrib><description>BACKGROUND: Cell‐free fetal DNA in maternal plasma opens the way for routine risk‐free diagnosis of fetal D status of D– mothers. The focus was on accuracy of RHD typing and confirmation of fetal DNA in maternal plasma while RHD was not detected.
STUDY DESIGN AND METHODS: Plasma DNA was extracted (by manual and/or automatic method) from 255 D– pregnant women and amplified in exons 7 and 10 and intron 4 of RHD gene with real‐time polymerase chain reaction. The presence of fetal DNA was confirmed by testing SRY and, when negative, by one of 11 different polymorphisms found in the father but not in the mother. The results were compared with the D status of the newborns.
RESULTS: After exclusion of 25 cases (10%) because of material shortage, in 230 cases (90%) available for complete study, the predictive value of the procedure of fetal RHD testing (RHD genotyping plus confirmation of fetal DNA) was 99.6 percent. SRY detection confirmed fetal DNA presence in maternal plasma in all boys, whereas the detection of various polymorphisms in all girls but one.
CONCLUSIONS: Fetal RHD genotyping from maternal plasma may be used with confidence, although additional polymorphisms for confirmation of fetal DNA should be included for 100 percent predictive value (instead of 99.6%).</description><identifier>ISSN: 0041-1132</identifier><identifier>EISSN: 1537-2995</identifier><identifier>DOI: 10.1111/j.1537-2995.2005.00559.x</identifier><identifier>PMID: 16131380</identifier><identifier>CODEN: TRANAT</identifier><language>eng</language><publisher>Oxford, UK and Malden, USA: Blackwell Science Inc</publisher><subject>Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy ; Biological and medical sciences ; Blood Grouping and Crossmatching ; Blood Preservation ; Blood Specimen Collection ; Blood. Blood and plasma substitutes. Blood products. Blood cells. Blood typing. Plasmapheresis. Apheresis ; Bone marrow, stem cells transplantation. Graft versus host reaction ; DNA - blood ; DNA - isolation & purification ; Female ; Fetal Blood ; Genotype ; Gynecology. Andrology. Obstetrics ; Humans ; Male ; Management. Prenatal diagnosis ; Maternal-Fetal Exchange ; Medical sciences ; Polymerase Chain Reaction - standards ; Polymorphism, Genetic ; Predictive Value of Tests ; Pregnancy ; Pregnancy. Fetus. Placenta ; Reproducibility of Results ; Rh-Hr Blood-Group System - blood ; Rh-Hr Blood-Group System - genetics ; Sex Factors ; Transfusions. Complications. Transfusion reactions. Cell and gene therapy</subject><ispartof>Transfusion (Philadelphia, Pa.), 2005-09, Vol.45 (9), p.1473-1480</ispartof><rights>2005 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4369-b868f285be9abe6c8e859eefbe48ae63e26c6269e70022fad20d560d5804631a3</citedby><cites>FETCH-LOGICAL-c4369-b868f285be9abe6c8e859eefbe48ae63e26c6269e70022fad20d560d5804631a3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fj.1537-2995.2005.00559.x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fj.1537-2995.2005.00559.x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>315,781,785,1418,27926,27927,45576,45577</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=17098613$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/16131380$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Brojer, E.</creatorcontrib><creatorcontrib>Żupanska, B.</creatorcontrib><creatorcontrib>Guz, K.</creatorcontrib><creatorcontrib>Orziñska, A.</creatorcontrib><creatorcontrib>Kaliñska, A.</creatorcontrib><title>Noninvasive determination of fetal RHD status by examination of cell-free DNA in maternal plasma</title><title>Transfusion (Philadelphia, Pa.)</title><addtitle>Transfusion</addtitle><description>BACKGROUND: Cell‐free fetal DNA in maternal plasma opens the way for routine risk‐free diagnosis of fetal D status of D– mothers. The focus was on accuracy of RHD typing and confirmation of fetal DNA in maternal plasma while RHD was not detected.
STUDY DESIGN AND METHODS: Plasma DNA was extracted (by manual and/or automatic method) from 255 D– pregnant women and amplified in exons 7 and 10 and intron 4 of RHD gene with real‐time polymerase chain reaction. The presence of fetal DNA was confirmed by testing SRY and, when negative, by one of 11 different polymorphisms found in the father but not in the mother. The results were compared with the D status of the newborns.
RESULTS: After exclusion of 25 cases (10%) because of material shortage, in 230 cases (90%) available for complete study, the predictive value of the procedure of fetal RHD testing (RHD genotyping plus confirmation of fetal DNA) was 99.6 percent. SRY detection confirmed fetal DNA presence in maternal plasma in all boys, whereas the detection of various polymorphisms in all girls but one.
CONCLUSIONS: Fetal RHD genotyping from maternal plasma may be used with confidence, although additional polymorphisms for confirmation of fetal DNA should be included for 100 percent predictive value (instead of 99.6%).</description><subject>Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy</subject><subject>Biological and medical sciences</subject><subject>Blood Grouping and Crossmatching</subject><subject>Blood Preservation</subject><subject>Blood Specimen Collection</subject><subject>Blood. Blood and plasma substitutes. Blood products. Blood cells. Blood typing. Plasmapheresis. Apheresis</subject><subject>Bone marrow, stem cells transplantation. Graft versus host reaction</subject><subject>DNA - blood</subject><subject>DNA - isolation & purification</subject><subject>Female</subject><subject>Fetal Blood</subject><subject>Genotype</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Humans</subject><subject>Male</subject><subject>Management. Prenatal diagnosis</subject><subject>Maternal-Fetal Exchange</subject><subject>Medical sciences</subject><subject>Polymerase Chain Reaction - standards</subject><subject>Polymorphism, Genetic</subject><subject>Predictive Value of Tests</subject><subject>Pregnancy</subject><subject>Pregnancy. Fetus. Placenta</subject><subject>Reproducibility of Results</subject><subject>Rh-Hr Blood-Group System - blood</subject><subject>Rh-Hr Blood-Group System - genetics</subject><subject>Sex Factors</subject><subject>Transfusions. Complications. Transfusion reactions. Cell and gene therapy</subject><issn>0041-1132</issn><issn>1537-2995</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2005</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkE1vEzEQhi0EomnhLyBf4LaLP7Je-4JUpbRFCqFErXo0s5ux5LAfwd60yb_H20QtRyxZtuRnXs88hFDOcp7W53XOC1lmwpgiF4wVedqFyXevyOT54TWZMDblGedSnJDTGNeMMWEYf0tOuOKSS80m5Nei73z3ANE_IF3hgKH1HQy-72jvqMMBGrq8vqBxgGEbabWnuIN_kRqbJnMBkV4szqnvaAsppEtlmwZiC-_IGwdNxPfH84zcXX69nV1n8x9X32bn86yeSmWySivthC4qNFChqjXqwiC6CqcaUEkUqlZCGSzTEMLBSrBVodLWbKokB3lGPh1yN6H_s8U42NbHsTnosN9Gq3QSU5QsgfoA1qGPMaCzm-BbCHvLmR3t2rUdJdpRoh3t2ie7dpdKPxz_2FYtrl4KjzoT8PEIQKyhcQG62scXrmRGJzZxXw7co29w_98N2Nvl5dM1BWSHAB8H3D0HQPhtVZnmtPeLK7u8Ed9_zuba3si_1fmk9g</recordid><startdate>200509</startdate><enddate>200509</enddate><creator>Brojer, E.</creator><creator>Żupanska, B.</creator><creator>Guz, K.</creator><creator>Orziñska, A.</creator><creator>Kaliñska, A.</creator><general>Blackwell Science Inc</general><general>Blackwell Publishing</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>200509</creationdate><title>Noninvasive determination of fetal RHD status by examination of cell-free DNA in maternal plasma</title><author>Brojer, E. ; Żupanska, B. ; Guz, K. ; Orziñska, A. ; Kaliñska, A.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4369-b868f285be9abe6c8e859eefbe48ae63e26c6269e70022fad20d560d5804631a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2005</creationdate><topic>Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy</topic><topic>Biological and medical sciences</topic><topic>Blood Grouping and Crossmatching</topic><topic>Blood Preservation</topic><topic>Blood Specimen Collection</topic><topic>Blood. Blood and plasma substitutes. Blood products. Blood cells. Blood typing. Plasmapheresis. Apheresis</topic><topic>Bone marrow, stem cells transplantation. Graft versus host reaction</topic><topic>DNA - blood</topic><topic>DNA - isolation & purification</topic><topic>Female</topic><topic>Fetal Blood</topic><topic>Genotype</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Humans</topic><topic>Male</topic><topic>Management. Prenatal diagnosis</topic><topic>Maternal-Fetal Exchange</topic><topic>Medical sciences</topic><topic>Polymerase Chain Reaction - standards</topic><topic>Polymorphism, Genetic</topic><topic>Predictive Value of Tests</topic><topic>Pregnancy</topic><topic>Pregnancy. Fetus. Placenta</topic><topic>Reproducibility of Results</topic><topic>Rh-Hr Blood-Group System - blood</topic><topic>Rh-Hr Blood-Group System - genetics</topic><topic>Sex Factors</topic><topic>Transfusions. Complications. Transfusion reactions. Cell and gene therapy</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Brojer, E.</creatorcontrib><creatorcontrib>Żupanska, B.</creatorcontrib><creatorcontrib>Guz, K.</creatorcontrib><creatorcontrib>Orziñska, A.</creatorcontrib><creatorcontrib>Kaliñska, A.</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>Transfusion (Philadelphia, Pa.)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Brojer, E.</au><au>Żupanska, B.</au><au>Guz, K.</au><au>Orziñska, A.</au><au>Kaliñska, A.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Noninvasive determination of fetal RHD status by examination of cell-free DNA in maternal plasma</atitle><jtitle>Transfusion (Philadelphia, Pa.)</jtitle><addtitle>Transfusion</addtitle><date>2005-09</date><risdate>2005</risdate><volume>45</volume><issue>9</issue><spage>1473</spage><epage>1480</epage><pages>1473-1480</pages><issn>0041-1132</issn><eissn>1537-2995</eissn><coden>TRANAT</coden><abstract>BACKGROUND: Cell‐free fetal DNA in maternal plasma opens the way for routine risk‐free diagnosis of fetal D status of D– mothers. The focus was on accuracy of RHD typing and confirmation of fetal DNA in maternal plasma while RHD was not detected.
STUDY DESIGN AND METHODS: Plasma DNA was extracted (by manual and/or automatic method) from 255 D– pregnant women and amplified in exons 7 and 10 and intron 4 of RHD gene with real‐time polymerase chain reaction. The presence of fetal DNA was confirmed by testing SRY and, when negative, by one of 11 different polymorphisms found in the father but not in the mother. The results were compared with the D status of the newborns.
RESULTS: After exclusion of 25 cases (10%) because of material shortage, in 230 cases (90%) available for complete study, the predictive value of the procedure of fetal RHD testing (RHD genotyping plus confirmation of fetal DNA) was 99.6 percent. SRY detection confirmed fetal DNA presence in maternal plasma in all boys, whereas the detection of various polymorphisms in all girls but one.
CONCLUSIONS: Fetal RHD genotyping from maternal plasma may be used with confidence, although additional polymorphisms for confirmation of fetal DNA should be included for 100 percent predictive value (instead of 99.6%).</abstract><cop>Oxford, UK and Malden, USA</cop><pub>Blackwell Science Inc</pub><pmid>16131380</pmid><doi>10.1111/j.1537-2995.2005.00559.x</doi><tpages>8</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0041-1132 |
| ispartof | Transfusion (Philadelphia, Pa.), 2005-09, Vol.45 (9), p.1473-1480 |
| issn | 0041-1132 1537-2995 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_68537570 |
| source | MEDLINE; Access via Wiley Online Library |
| subjects | Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy Biological and medical sciences Blood Grouping and Crossmatching Blood Preservation Blood Specimen Collection Blood. Blood and plasma substitutes. Blood products. Blood cells. Blood typing. Plasmapheresis. Apheresis Bone marrow, stem cells transplantation. Graft versus host reaction DNA - blood DNA - isolation & purification Female Fetal Blood Genotype Gynecology. Andrology. Obstetrics Humans Male Management. Prenatal diagnosis Maternal-Fetal Exchange Medical sciences Polymerase Chain Reaction - standards Polymorphism, Genetic Predictive Value of Tests Pregnancy Pregnancy. Fetus. Placenta Reproducibility of Results Rh-Hr Blood-Group System - blood Rh-Hr Blood-Group System - genetics Sex Factors Transfusions. Complications. Transfusion reactions. Cell and gene therapy |
| title | Noninvasive determination of fetal RHD status by examination of cell-free DNA in maternal plasma |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-18T12%3A17%3A20IST&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=Noninvasive%20determination%20of%20fetal%20RHD%20status%20by%20examination%20of%20cell-free%20DNA%20in%20maternal%20plasma&rft.jtitle=Transfusion%20(Philadelphia,%20Pa.)&rft.au=Brojer,%20E.&rft.date=2005-09&rft.volume=45&rft.issue=9&rft.spage=1473&rft.epage=1480&rft.pages=1473-1480&rft.issn=0041-1132&rft.eissn=1537-2995&rft.coden=TRANAT&rft_id=info:doi/10.1111/j.1537-2995.2005.00559.x&rft_dat=%3Cproquest_cross%3E68537570%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=68537570&rft_id=info:pmid/16131380&rfr_iscdi=true |