Diagnostic accuracy of noninvasive polymerase chain reaction testing for the determination of fetal rhesus C, c and E status in early pregnancy

Please cite this paper as: Gutensohn K, Müller S, Thomann K, Stein W, Suren A, Körtge‐Jung S, Schlüter G, Legler T. Diagnostic accuracy of noninvasive polymerase chain reaction testing for the determination of fetal rhesus C, c and E status in early pregnancy. BJOG 2010; DOI: 10.1111/j.1471‐0528.201...

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Veröffentlicht in:BJOG : an international journal of obstetrics and gynaecology 2010-05, Vol.117 (6), p.722-729
Hauptverfasser: Gutensohn, K, Müller, SP, Thomann, K, Stein, W, Suren, A, Körtge‐Jung, S, Schlüter, G, Legler, TJ
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container_end_page 729
container_issue 6
container_start_page 722
container_title BJOG : an international journal of obstetrics and gynaecology
container_volume 117
creator Gutensohn, K
Müller, SP
Thomann, K
Stein, W
Suren, A
Körtge‐Jung, S
Schlüter, G
Legler, TJ
description Please cite this paper as: Gutensohn K, Müller S, Thomann K, Stein W, Suren A, Körtge‐Jung S, Schlüter G, Legler T. Diagnostic accuracy of noninvasive polymerase chain reaction testing for the determination of fetal rhesus C, c and E status in early pregnancy. BJOG 2010; DOI: 10.1111/j.1471‐0528.2010.02518.x. Objective  The aim of the study was to determine the sensitivity, specificity and accuracy of noninvasive tests for the fetal rhesus CcEc (RHCE) alleles C, c and E in early pregnancy. Design  A prospective clinical trial was carried out to evaluate diagnostic accuracy. Setting  Women were recruited at four centres specialising in prenatal diagnosis. Peripheral blood and amniotic fluid samples were obtained and sent to a single laboratory for analysis. Sample  A total of 233 tests (46 for C, 87 for c and 100 for E) were performed on 181 specimens obtained from pregnant women at weeks 12 to 28 (median week 16) of gestation. Methods  Following automated extraction of fetal DNA from maternal plasma, two different real‐time polymerase chain reaction (PCR) protocols were used for the detection of the C, c and E alleles of RHCE. The results of the PCR were compared with genotyping results for the amniotic fluid. Main outcome measures  Failure rate, sensitivity, specificity and accuracy were the main outcome measures. Results  Unequivocal results were obtained for all specimens. With the first PCR protocol, the sensitivity was 100% for C, 38% for c and 59% for E. In contrast, with the second protocol, the sensitivity for C, c and E was 100%. The specificity for all assays was found to be between 99% and 100%. Conclusions  A highly accurate protocol has been identified for the detection of fetal RHCE alleles in maternal plasma in early pregnancy. This noninvasive approach can be considered as a useful test in the management of pregnancies with anti‐c, anti‐E or anti‐C alloimmunisation.
doi_str_mv 10.1111/j.1471-0528.2010.02518.x
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Diagnostic accuracy of noninvasive polymerase chain reaction testing for the determination of fetal rhesus C, c and E status in early pregnancy. BJOG 2010; DOI: 10.1111/j.1471‐0528.2010.02518.x. Objective  The aim of the study was to determine the sensitivity, specificity and accuracy of noninvasive tests for the fetal rhesus CcEc (RHCE) alleles C, c and E in early pregnancy. Design  A prospective clinical trial was carried out to evaluate diagnostic accuracy. Setting  Women were recruited at four centres specialising in prenatal diagnosis. Peripheral blood and amniotic fluid samples were obtained and sent to a single laboratory for analysis. Sample  A total of 233 tests (46 for C, 87 for c and 100 for E) were performed on 181 specimens obtained from pregnant women at weeks 12 to 28 (median week 16) of gestation. Methods  Following automated extraction of fetal DNA from maternal plasma, two different real‐time polymerase chain reaction (PCR) protocols were used for the detection of the C, c and E alleles of RHCE. The results of the PCR were compared with genotyping results for the amniotic fluid. Main outcome measures  Failure rate, sensitivity, specificity and accuracy were the main outcome measures. Results  Unequivocal results were obtained for all specimens. With the first PCR protocol, the sensitivity was 100% for C, 38% for c and 59% for E. In contrast, with the second protocol, the sensitivity for C, c and E was 100%. The specificity for all assays was found to be between 99% and 100%. Conclusions  A highly accurate protocol has been identified for the detection of fetal RHCE alleles in maternal plasma in early pregnancy. This noninvasive approach can be considered as a useful test in the management of pregnancies with anti‐c, anti‐E or anti‐C alloimmunisation.</description><identifier>ISSN: 1470-0328</identifier><identifier>EISSN: 1471-0528</identifier><identifier>DOI: 10.1111/j.1471-0528.2010.02518.x</identifier><identifier>PMID: 20175873</identifier><identifier>CODEN: BIOGFQ</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Publishing Ltd</publisher><subject>Accuracy ; Adolescent ; Adult ; Biological and medical sciences ; Diagnostic tests ; Female ; Genes ; Genetic Markers - genetics ; Genotype ; Genotype &amp; phenotype ; Genotyping ; Gynecology. Andrology. 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Diagnostic accuracy of noninvasive polymerase chain reaction testing for the determination of fetal rhesus C, c and E status in early pregnancy. BJOG 2010; DOI: 10.1111/j.1471‐0528.2010.02518.x. Objective  The aim of the study was to determine the sensitivity, specificity and accuracy of noninvasive tests for the fetal rhesus CcEc (RHCE) alleles C, c and E in early pregnancy. Design  A prospective clinical trial was carried out to evaluate diagnostic accuracy. Setting  Women were recruited at four centres specialising in prenatal diagnosis. Peripheral blood and amniotic fluid samples were obtained and sent to a single laboratory for analysis. Sample  A total of 233 tests (46 for C, 87 for c and 100 for E) were performed on 181 specimens obtained from pregnant women at weeks 12 to 28 (median week 16) of gestation. Methods  Following automated extraction of fetal DNA from maternal plasma, two different real‐time polymerase chain reaction (PCR) protocols were used for the detection of the C, c and E alleles of RHCE. The results of the PCR were compared with genotyping results for the amniotic fluid. Main outcome measures  Failure rate, sensitivity, specificity and accuracy were the main outcome measures. Results  Unequivocal results were obtained for all specimens. With the first PCR protocol, the sensitivity was 100% for C, 38% for c and 59% for E. In contrast, with the second protocol, the sensitivity for C, c and E was 100%. The specificity for all assays was found to be between 99% and 100%. Conclusions  A highly accurate protocol has been identified for the detection of fetal RHCE alleles in maternal plasma in early pregnancy. 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Obstetrics</subject><subject>Humans</subject><subject>maternal</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Phenotype</subject><subject>Polymerase chain reaction</subject><subject>Polymerase Chain Reaction - methods</subject><subject>Polymerase Chain Reaction - standards</subject><subject>Pregnancy</subject><subject>Pregnancy Trimester, First</subject><subject>Pregnancy Trimester, Second</subject><subject>Prenatal Diagnosis - methods</subject><subject>Prenatal Diagnosis - standards</subject><subject>Rh Isoimmunization - diagnosis</subject><subject>Rh Isoimmunization - embryology</subject><subject>Rh-Hr Blood-Group System - genetics</subject><subject>RHCE gene</subject><subject>sensitivity</subject><subject>Sensitivity and Specificity</subject><subject>specificity</subject><subject>Young Adult</subject><issn>1470-0328</issn><issn>1471-0528</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2010</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkU1v1DAQhiMEoqXwF5CFhLiQxR9x7Rw4wFK-VKkXOFuOM9n1KrEXOynNr-AvM9ldisSJuXg088zrsd-iIIyuGMab3YpVipVUcr3iFKuUS6ZXdw-K8_vGw0NOSyq4Piue5LyjlF1yKh4XZzijpFbivPj1wdtNiHn0jljnpmTdTGJHQgw-3Nrsb4HsYz8PkGwG4rbWB5LAutHHQEbAwbAhXUxk3AJpYYQ0-GAPXZTpYLQ9SVvIUybr1wQvCS25Inm0I1ZQC2zqZ7JPsAk2uPlp8aizfYZnp_Oi-P7x6tv6c3l98-nL-t116SoudclFpZqqblpdi9a1DYhO8cYxWtmmqTVXtpaVY1oiTCspuKoZkoIzymTHmLgoXh119yn-mPAZZvDZQd_bAHHKRgkhKsGURvLFP-QuTingcoZzeUklyiOkj5BLMecEndknP9g0G0bNYpnZmcUZszhjFsvMwTJzh6PPT_pTM0B7P_jHIwRengCbne27hP_k81-OK0UxkHt75H76Hub_XsC8_3qzZOI3YXixoA</recordid><startdate>201005</startdate><enddate>201005</enddate><creator>Gutensohn, K</creator><creator>Müller, SP</creator><creator>Thomann, K</creator><creator>Stein, W</creator><creator>Suren, A</creator><creator>Körtge‐Jung, S</creator><creator>Schlüter, G</creator><creator>Legler, TJ</creator><general>Blackwell Publishing Ltd</general><general>Blackwell</general><general>Wiley Subscription Services, Inc</general><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>7QP</scope><scope>ASE</scope><scope>FPQ</scope><scope>K6X</scope><scope>K9.</scope><scope>7X8</scope></search><sort><creationdate>201005</creationdate><title>Diagnostic accuracy of noninvasive polymerase chain reaction testing for the determination of fetal rhesus C, c and E status in early pregnancy</title><author>Gutensohn, K ; Müller, SP ; Thomann, K ; Stein, W ; Suren, A ; Körtge‐Jung, S ; Schlüter, G ; Legler, TJ</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4258-2347b49bd893dcdbe3f72bc104abb9827a954c1852580453279193d321015f113</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2010</creationdate><topic>Accuracy</topic><topic>Adolescent</topic><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>Diagnostic tests</topic><topic>Female</topic><topic>Genes</topic><topic>Genetic Markers - genetics</topic><topic>Genotype</topic><topic>Genotype &amp; phenotype</topic><topic>Genotyping</topic><topic>Gynecology. 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Obstetrics</topic><topic>Humans</topic><topic>maternal</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Phenotype</topic><topic>Polymerase chain reaction</topic><topic>Polymerase Chain Reaction - methods</topic><topic>Polymerase Chain Reaction - standards</topic><topic>Pregnancy</topic><topic>Pregnancy Trimester, First</topic><topic>Pregnancy Trimester, Second</topic><topic>Prenatal Diagnosis - methods</topic><topic>Prenatal Diagnosis - standards</topic><topic>Rh Isoimmunization - diagnosis</topic><topic>Rh Isoimmunization - embryology</topic><topic>Rh-Hr Blood-Group System - genetics</topic><topic>RHCE gene</topic><topic>sensitivity</topic><topic>Sensitivity and Specificity</topic><topic>specificity</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Gutensohn, K</creatorcontrib><creatorcontrib>Müller, SP</creatorcontrib><creatorcontrib>Thomann, K</creatorcontrib><creatorcontrib>Stein, W</creatorcontrib><creatorcontrib>Suren, A</creatorcontrib><creatorcontrib>Körtge‐Jung, S</creatorcontrib><creatorcontrib>Schlüter, G</creatorcontrib><creatorcontrib>Legler, TJ</creatorcontrib><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>Calcium &amp; Calcified Tissue Abstracts</collection><collection>British Nursing Index</collection><collection>British Nursing Index (BNI) (1985 to Present)</collection><collection>British Nursing Index</collection><collection>ProQuest Health &amp; Medical Complete (Alumni)</collection><collection>MEDLINE - Academic</collection><jtitle>BJOG : an international journal of obstetrics and gynaecology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Gutensohn, K</au><au>Müller, SP</au><au>Thomann, K</au><au>Stein, W</au><au>Suren, A</au><au>Körtge‐Jung, S</au><au>Schlüter, G</au><au>Legler, TJ</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Diagnostic accuracy of noninvasive polymerase chain reaction testing for the determination of fetal rhesus C, c and E status in early pregnancy</atitle><jtitle>BJOG : an international journal of obstetrics and gynaecology</jtitle><addtitle>BJOG</addtitle><date>2010-05</date><risdate>2010</risdate><volume>117</volume><issue>6</issue><spage>722</spage><epage>729</epage><pages>722-729</pages><issn>1470-0328</issn><eissn>1471-0528</eissn><coden>BIOGFQ</coden><abstract>Please cite this paper as: Gutensohn K, Müller S, Thomann K, Stein W, Suren A, Körtge‐Jung S, Schlüter G, Legler T. Diagnostic accuracy of noninvasive polymerase chain reaction testing for the determination of fetal rhesus C, c and E status in early pregnancy. BJOG 2010; DOI: 10.1111/j.1471‐0528.2010.02518.x. Objective  The aim of the study was to determine the sensitivity, specificity and accuracy of noninvasive tests for the fetal rhesus CcEc (RHCE) alleles C, c and E in early pregnancy. Design  A prospective clinical trial was carried out to evaluate diagnostic accuracy. Setting  Women were recruited at four centres specialising in prenatal diagnosis. Peripheral blood and amniotic fluid samples were obtained and sent to a single laboratory for analysis. Sample  A total of 233 tests (46 for C, 87 for c and 100 for E) were performed on 181 specimens obtained from pregnant women at weeks 12 to 28 (median week 16) of gestation. Methods  Following automated extraction of fetal DNA from maternal plasma, two different real‐time polymerase chain reaction (PCR) protocols were used for the detection of the C, c and E alleles of RHCE. The results of the PCR were compared with genotyping results for the amniotic fluid. Main outcome measures  Failure rate, sensitivity, specificity and accuracy were the main outcome measures. Results  Unequivocal results were obtained for all specimens. With the first PCR protocol, the sensitivity was 100% for C, 38% for c and 59% for E. In contrast, with the second protocol, the sensitivity for C, c and E was 100%. The specificity for all assays was found to be between 99% and 100%. Conclusions  A highly accurate protocol has been identified for the detection of fetal RHCE alleles in maternal plasma in early pregnancy. This noninvasive approach can be considered as a useful test in the management of pregnancies with anti‐c, anti‐E or anti‐C alloimmunisation.</abstract><cop>Oxford, UK</cop><pub>Blackwell Publishing Ltd</pub><pmid>20175873</pmid><doi>10.1111/j.1471-0528.2010.02518.x</doi><tpages>8</tpages></addata></record>
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subjects Accuracy
Adolescent
Adult
Biological and medical sciences
Diagnostic tests
Female
Genes
Genetic Markers - genetics
Genotype
Genotype & phenotype
Genotyping
Gynecology. Andrology. Obstetrics
Humans
maternal
Medical sciences
Middle Aged
Phenotype
Polymerase chain reaction
Polymerase Chain Reaction - methods
Polymerase Chain Reaction - standards
Pregnancy
Pregnancy Trimester, First
Pregnancy Trimester, Second
Prenatal Diagnosis - methods
Prenatal Diagnosis - standards
Rh Isoimmunization - diagnosis
Rh Isoimmunization - embryology
Rh-Hr Blood-Group System - genetics
RHCE gene
sensitivity
Sensitivity and Specificity
specificity
Young Adult
title Diagnostic accuracy of noninvasive polymerase chain reaction testing for the determination of fetal rhesus C, c and E status in early pregnancy
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