Prediction of fetal D status from maternal plasma: introduction of a new noninvasive fetal<i>RHD</i>genotyping service

Finning, Kirstin; Martin, Pauline; Soothill, Peter; Avent, Neil D.

doi:10.1046/j.1537-2995.2002.00165.x

Cited by 303 publications

(277 citation statements)

References 27 publications

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“…The method has been used effectively to determine fetal sex, and since 2001 a molecular diagnostic service for fetal RHD genotyping has existed in the UK. 8,9,17 Testing for the prediction of C, c, E and Kell phenotypes has also been performed. [12][13][14][15] As early analysis during pregnancy allows timely and effective clinical treatment, we focused on women in early pregnancy (median 16 weeks of gestation).…”

Section: Discussionmentioning

confidence: 99%

“…[8][9][10][11] Whereas numerous studies reporting data for several thousand pregnancies have demonstrated the accuracy of noninvasive prenatal diagnosis of the fetal D type, tests for C, c and E have been investigated in only a few studies with relatively small sample sizes, in which samples were mainly collected later in pregnancy. [12][13][14][15][16] DNA testing earlier in pregnancy has now been established for RhD determination.…”

Section: Introductionmentioning

confidence: 99%

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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

Gutensohn¹,

Müller

Thomann

et al. 2010

BJOG

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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.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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

Gutensohn¹,

Müller

Thomann

et al. 2010

BJOG

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“…During pregnancy, the placenta undergoes apoptosis and releases fragmented DNA that circulates as cell-free DNA (cfDNA) in the maternal plasma, together with the much larger amounts released from maternal cells. Early in pregnancy, small amounts of fetally derived cfDNA exist, but the fraction of fetal cfDNA in the maternal circulation increases with advancing gestational age (Finning et al 2002). Only a small amount of placentally derived template material in a large surplus of maternal cfDNA is available for PCR amplification.…”

Section: Fetal Blood Group Typingmentioning

confidence: 99%

Noninvasive Antenatal Determination of Fetal Blood Group Using Next-Generation Sequencing

Rieneck

Clausen

Dziegiel

2015

Cold Spring Harb Perspect Med

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“…Azokban az esetekben, ahol az anyai és magzati eredetű fragmentumok között különbség van, például fi ú magzat vagy RhD-negatív anya RhD-pozitív magzata, a plazmában keringő szabad DNS megbízhatóan használható nem invazív diagnosztikai céllal [15,16,17,18,19,20]. Az esetek más részében egy adott génre nézve az anyai és magzati, valamint apai allélok nem feltétlenül különbözőek.…”

Section: A Magzati Aneuploidiák Nem Invazív Vizsgálataunclassified

Cell-free nucleic acid based non-invasive prenatal diagnosis of fetal aneuploidies

et al. 2012

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A magzati aneuploidiák kizárása a korszerű praenatalis diagnosztika egyik legfontosabb kihívása. Az elmúlt évtize-dekben, köszönhetően az ultrahangos vizsgálóberendezések, valamint a molekuláris biológiai módszerek fejlődésé-nek, a magzati kromoszóma-rendellenességek szűrése jelentős fejlődésen ment keresztül. Pozitív szűrővizsgálati eredmények esetében azonban a várandósoknak továbbra is szembe kell nézniük az invazív diagnosztika által jelentett vetélés kockázatával. Az invazív mintavételi módszerek vetéléskockázatát fi gyelembe véve érthető, hogy egyre nagyobb igény van olyan vizsgálómódszerek fejlesztésére, amelyek során úgy juthatunk magzati eredetű mintához, hogy a vetéléskockázatot kiküszöböljük, ugyanakkor a vizsgálómódszer érzékenysége és specifi citása megközelíti vagy eléri az invazív mintavétel során nyert minták vizsgálati eredményeinek megbízhatóságát. Az anyai vérben keringő, magzati eredetű szabad nukleinsavak vizsgálata reális esélyt jelent e cél elérésére, lehetőséget teremtve az invazív mintavételek számának ésszerű/megalapozott csökkentésére. Jelen közleményünkben röviden összefoglal-juk a magzati aneuploidiák nem invazív diagnosztikájának hátterét és lehetőségeit. Orv. Hetil., 2012, 153, 1687-1691. Kulcsszavak: praenatalis diagnosztika, szabad magzati nukleinsavak, digitális PCR Cell-free nucleic acid based non-invasive prenatal diagnosis of fetal aneuploidiesPrenatal detection of fetal aneuploidies is one of the main goals of the prenatal diagnostic approach. As a benefi t of the development of advanced ultrasound equipment and advances in molecular biology in the last decade, there is a signifi cant progress in screening methods for fetal aneuploidies, although invasive methods remain the gold standard for aneuploidy detection. Non-invasive prenatal diagnosis has substantial medical impact as it targets the development of safer and more effective methods to avoid the risk of fetal loss associated with currently used invasive methods. Identifi cation of fetal-specifi c messenger ribonucleic acids, digital polymerase chain reaction and next-generation sequencing give the real chance for non-invasive prenatal diagnosis of fetal aneuploidies. Although all these methods have both advantages and limitations, some of them are moving closer to clinical implementation. In this review the authors highlight the most recent advances in methods for non-invasive prenatal diagnosis of aneuploidies. Orv. Hetil., 2012Hetil., , 153, 1687Hetil., -1691 Keywords: prenatal diagnosis, cell-free fetal nucleic acids, digital PCR (Beérkezett: 2012. szeptember 3.; elfogadva: 2012. szeptember 27.) Rövidítések AFP = alfa-fötoprotein; b-HCG = humán béta-koriogonadotropin; CGH = komparatív genomiális hibridizációs array; CVS-mintavétel = lepényboholy-mintavétel; GAC-mintavétel = magzatvíz-mintavétel; GE = genomekvivalens; FISH = fl uoreszcens in situ hibridizáció; fl uoreszcens PCR = fl uoreszcens polimeráz láncreakció; NT = nyaki redő; SNP = single nucleotide polimorfi zmus A terhesség során végzett szűrő-és diagnosz...

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Prediction of fetal D status from maternal plasma: introduction of a new noninvasive fetalRHDgenotyping service

Abstract: Combination of the sensitivity of real-time PCR with an improved RHD typing assay to distinguish RHD from RHDpsi enables highly accurate prediction of fetal D status from maternal plasma. This has resulted in the implementation of a clinical noninvasive fetal RHD genotyping service.

Cited by 303 publications

References 27 publications

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

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

Noninvasive Antenatal Determination of Fetal Blood Group Using Next-Generation Sequencing

Cell-free nucleic acid based non-invasive prenatal diagnosis of fetal aneuploidies

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