Circulating nucleic acids in plasma and serum: applications in diagnostic techniques for noninvasive prenatal diagnosis

References

• MendelPMétaisPLes acides nucleiques du plasma sanguine chez l’homme. [Nucleic acids in human blood plasma]C R Acad Sci Paris1948142241243 French
   Google Scholar
• WatsonJDCrickFHCA Structure for deoxyribose nucleic acidNature195317173773813054692
   PubMed Web of Science ®Google Scholar
• WilkinsMFHStokesARWilsonHRMolecular structure of deoxypentose nucleic acidsNature195317173813054693
   PubMed Web of Science ®Google Scholar
• SinsheimerRLFirst Steps toward a genetic chemistryScience19571251123112813432771
   PubMed Web of Science ®Google Scholar
• KofflerDAgnelloVWinchesterRThe occurrence of single stranded DNA in the serum of patients with systemic lupus erythematosus and other diseasesJ Clin Invest1973521982044629907
   PubMed Web of Science ®Google Scholar
• LeonSAShapiroBSklaroffDFree DNA in the serum of cancer patients and the effect of therapyCancer Res197737646650837366
   PubMed Web of Science ®Google Scholar
• StrounMAnkerPMauricePNeoplastic characteristics of the DNA found in the plasma of cancer patientsOncology1989463187122779946
   PubMed Web of Science ®Google Scholar
• GahanPBStrounMThe biology of circulating nucleic acids in plasma and serumRykovaEYKikuchiYExtracellular Nucleic Acids In NAMB series “Nucleic Acids and Molecular Biology”BerlinSpringer2010
   Google Scholar
• WataganaraTLeShaneESChenAYPlasma gamma-globulin gene expression suggest that fetal hemapoietic cells contribute to the pool of circulating cell-free fetal nucleic acids during pregnancyClin Chem20045068915044329
   PubMed Web of Science ®Google Scholar
• WataganaraTLeshaneESChenAYCirculating cell-free fetal nucleic acids may be a model marker of fetomaternal hemorrhage after elective first = trimester termination of pregnancyAnn N Y Acad Sci2004102212913415251951
   PubMed Web of Science ®Google Scholar
• LoYMDTowards the development of noninvasive prenatal diagnosis of fetal chromosomal aneuploidiesAnn N Y Acad Sci2008113714014318837938
   PubMed Web of Science ®Google Scholar
• BianchiDWLeshaneESCowanJMLarge amounts of cell-free fetal DNA are present in amniotic fluidClin Chem2001471867186911568107
   PubMed Web of Science ®Google Scholar
• ChanKCAZhangJHuiABYSize distributions of maternal and fetal DNA in maternal plasmaClin Chem200450889214709639
   PubMed Web of Science ®Google Scholar
• LiYZimmermannBRusterholzBSize separation of circulatory DNA in maternal plasma permits ready detection of fetal DNA polymorphismsClin Chem2004501002101115073090
   PubMed Web of Science ®Google Scholar
• American College of Obstetricians and GynecologistsACOG Practice Bulletin No 88, December 2007. Invasive prenatal testing for aneuploidyObstet Gynecol20071101459146718055749
   PubMedGoogle Scholar
• OdehMGraninVKaisMSonographic fetal sex determinationObstet Gynecol Surv200964505719099612
   PubMed Web of Science ®Google Scholar
• LoYMDCorbettaNChamberlainPFPresence of fetal DNA in maternal plasma and serumLancet19973504854879274585
   PubMed Web of Science ®Google Scholar
• WalknowskaJConteFAGrumbachMMPractical and theoretical implications of fetal/maternal lymphocyte transferLancet19691111911224181601
   PubMed Web of Science ®Google Scholar
• LoYMDPatelPWainscoatJSPrenatal sex determination by DNA amplification from maternal peripheral bloodLancet19892136313652574306
   PubMed Web of Science ®Google Scholar
• ChaDHKhosrotehraniKBianchiDWThe utility of an erythroblast scoring system and gender-independent short tandem repeat (STR) analysis for the detection of aneuploid fetal cells in maternal bloodPrenat Diagn20052558659116032770
   PubMed Web of Science ®Google Scholar
• BianchiDWFetal cells in the maternal circulation: feasibility for prenatal diagnosis [Review]Br J Haematol199910557458310354115
   PubMed Web of Science ®Google Scholar
• BianchiDWSimpsonJLJacksonLGFetal gender and aneuploidy detection using fetal cells in maternal blood: analyses of NIFTY I dataPrenatal Diag20022260961512124698
   PubMed Web of Science ®Google Scholar
• SmidMLagonaFde BenassutiLEvaluation of different approaches for fetal DNA analysis from maternal plasma and nucleated blood cellsClin Chem1999451570157210471665
   PubMed Web of Science ®Google Scholar
• Houfflin-DebargeVO’DonnellHOvertonTHigh sensitivity of fetal DNA in plasma compared to serum and nucleated cells using unnested PCR in maternal bloodFetal Diagn Ther20001510210710720875
   PubMed Web of Science ®Google Scholar
• LoYMDTeinMSCLauTKQuantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosisAm J Hum Genet1998627687759529358
   PubMed Web of Science ®Google Scholar
• LoYMZhangJLeungTNRapid clearance of fetal DNA from maternal plasmaAm J Hum Genet1999642182249915961
   PubMed Web of Science ®Google Scholar
• TsuiNBYJiangPChowKCKHigh resolution size analysis of fetal DNA in the urine of pregnant women by paired-end massively parallel sequencingPLoS One20127e4831923118982
   PubMed Web of Science ®Google Scholar
• KorbelJOUrbanAEAffourtitJPPaired-end mapping reveals extensive structural variation in the human genomeScience200731842042617901297
   PubMed Web of Science ®Google Scholar
• KiddJMCooperGMDonahueWFMapping and sequencing of structural variation from eight human genomesNature2008453566418451855
   PubMed Web of Science ®Google Scholar
• LevySSuttonGNgPCThe diploid genome sequence of an individual humanPLoS Biol20075e25417803354
   PubMed Web of Science ®Google Scholar
• WangJWangWLiRThe diploid genome sequence of an Asian individualNature2008456606518987735
   PubMed Web of Science ®Google Scholar
• LoYMDChiuRWKPlasma nucleic acid analysis by massively parallel sequencing: pathological insights and diagnostic implicationsJ Path201125318323
   Web of Science ®Google Scholar
• LoYMDChanKCASunHMaternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetusSci Transl Med2010261ra91
   PubMed Web of Science ®Google Scholar
• FanHCBlumenfeldYJChitkaraUNoninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal bloodProc Natl Acad Sci USA2008105162661627118838674
   PubMed Web of Science ®Google Scholar
• FanCGuWWangJNon-invasive prenatal measurement of the fetal genomeNature Epub8182012
   Web of Science ®Google Scholar
• HuiLBianchiDWCell-free fetal nucleic acids in amniotic fluidHum Reprod Update20111736237120923874
   PubMed Web of Science ®Google Scholar
• LarrabeePBJohnsonKLPestovaEMicroarray analysis of cell-free fetal DNA in amniotic fluid: a prenatal molecular karyotypeAm J Hum Genet20047548549115252756
   PubMed Web of Science ®Google Scholar
• MiuraSMiuraKMasuzakiHMicroarray comparative genomic hybridization (CGH)-based prenatal diagnosis for chromosome abnormalities using cell-free fetal DNA in amniotic fluidJ Hum Genet20065141241716622586
   PubMed Web of Science ®Google Scholar
• PoonLLMLeungTNLauTKPresence of fetal RNA in maternal plasmaClin Chem2000461832183411067820
   PubMed Web of Science ®Google Scholar
• NgEKTsuiNBLauTKmRNA of placental origin is readily detectable in maternal plasmaProc Natl Acad Sci USA20031004748475312644709
   PubMed Web of Science ®Google Scholar
• ReddiKKHollandJFElevated serum ribonuclease in patients with pancreatic cancerProc Natl Acad Sci USA197673230823101065880
   PubMed Web of Science ®Google Scholar
• GahanPBStrounMThe virtosome – a novel cytosolic informative entity and intracellular messengerCell Biochem Funct20102852953820941743
   PubMed Web of Science ®Google Scholar
• NgEKLeungTNTsuiNBThe concentration of circulating corticotropin-releasing hormone mRNA in maternal plasma is increased in preeclampsiaClin Chem20034972773112709362
   PubMed Web of Science ®Google Scholar
• GoATVisserAMuldersMADetection of placental transcription factor mRNA in maternal plasmaClin Chem2004501413141415277347
   PubMed Web of Science ®Google Scholar
• LarrabeePBJohnsonKLLaiCGlobal gene expression analysis of the living human fetus using cell-free messenger RNA in amniotic fluidJ Am Med Assoc2005293836842
   PubMed Web of Science ®Google Scholar
• SlonimDKKoideKJohnsonKLFunctional genomic analysis of amniotic fluid cell-free mRNA implies that oxidative stress is significant in Down syndrome fetusesProc Natl Acad Sci USA20091069425942919474297
   PubMed Web of Science ®Google Scholar
• HuiLSlonimDKWickHCThe amniotic fluid transcriptome: a source of novel information about human fetal developmentObstet Gynecol201211911111822183218
   PubMed Web of Science ®Google Scholar
• MaronJLJohnsonKLRockeDMNeonatal salivary analysis reveals global developmental gene expression: changes in the premature infantClin Chem20105640941619959617
   PubMed Web of Science ®Google Scholar
• VainerOBKatokhinAVKhustovSMA new Y chromosome marker for non-invasive fetal gender determinationAnn N Y Acad Sci2008113715716118837941
   PubMed Web of Science ®Google Scholar
• VecchioneGTomaiuoloMSarnoMFetal identification in maternal plasma by means of short tandem repeats on chromosome XAnn N Y Acad Sci2008113714815618837940
   PubMed Web of Science ®Google Scholar
• WrightCFBurtonHThe use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosisHum Reprod Update20091513915118945714
   PubMed Web of Science ®Google Scholar
• TangNLSLeungTNZhangJDetection of fetal-derived paternally inherited X-chromosome polymorphisms in maternal plasmaClin Chem1999452033203510545084
   PubMed Web of Science ®Google Scholar
• ChenC-PChernS-RWangWFetal DNA analyzed in plasma from a mother’s three consecutive pregnancies to detect paternally inherited aneuploidyClin Chem20014793793911325900
   PubMed Web of Science ®Google Scholar
• GhorbianSApplications of cell free fetal DNA in maternal serumInt J Fertility Fetal Med201233339
   Google Scholar
• LoYMHjelmNMFidlerCPrenatal diagnosis of fetal RhD status by molecular analysis of maternal plasmaN Engl J Med1998339173417389845707
   PubMed Web of Science ®Google Scholar
• BischoffFZNguyenDDMarquéz-DoDNoninvasive determination of fetal RhD status using fetal DNA in maternal serum and PCRJ Soc Gynecol Investig199966469
   PubMedGoogle Scholar
• FinningKMartinPDanielsGA clinical service in the UK to predict fetal Rh (Rhesus) D blood group using free fetal DNA in maternal plasmaAnn N Y Acad Sci2004102211912415251949
   PubMed Web of Science ®Google Scholar
• DanielsGFinningKMartinPFetal blood group genotyping. Present and futureAnn N Y Acad Sci20061075889517108196
   PubMed Web of Science ®Google Scholar
• FinningKMartinPSummersJEffect of high throughput RHD typing of fetal DNA in maternal plasma on use of anti-RhD immunoglobulin in RhD negative pregnant women: prospective feasibility studyBMJ200833681682618390496
   PubMed Web of Science ®Google Scholar
• CardoLGarciaBPAlvarezFVNon-invasive fetal RDH genotyping in the first trimester of pregnancyClin Chem Lab Med2010481121112620482298
   PubMed Web of Science ®Google Scholar
• SedrakLMHashadDAdelHUse of free fetal DNA in prenatal noninvasive detection of fetal RhD status and fetal gender by molecular analysis of maternal plasmaGenet Test Mol Biomarkers20111562763121488716
   PubMed Web of Science ®Google Scholar
• BombardATAkolekarRFarkasDHFetal RHD genotype detection from circulating cell-free fetal DNA in maternal plasma in non-sensitised RhD negative womenPrenat Diagn20113180282821626507
   PubMed Web of Science ®Google Scholar
• AkolekarRFarkasDHVanAgtmaelALFetal sex determination using circulating cell-free fetal DNA (ccffDNA) at 11 to 13 weeks of gestationPrenat Diagn20103091892320721878
   PubMed Web of Science ®Google Scholar
• KotzolDBundschererGBernasconiFIsochromosome 18P results from maternal meiosis-II nondisjunctionEur J Hum Genet199641681748840117
   PubMed Web of Science ®Google Scholar
• YangYHKimIKOhSHRapid prenatal diagnosis of trisomy 21 by polymerase chain reaction associated analysis of small tandem repeats and S100B in chromosome 21Fetal Diagn Ther1998133613669933820
   PubMed Web of Science ®Google Scholar
• YangYHNamMSYangESRapid prenatal diagnosis of trisomy 21 by real-time quantitative polymerase chain reaction with amplification of small tandem repeats and S100B in chromosome 21Yonsei Med J20054619319715861490
   PubMed Web of Science ®Google Scholar
• LoYMDChiuRWKNoninvasive prenatal diagnosis of fetal chromosome aneuploidies by maternal plasma nucleic analysisClin Chem20085446146618202154
   PubMed Web of Science ®Google Scholar
• GoATvan VugtJMOudejansCBNon-invasive aneuploidy detection using free fetal DNA and RNA in maternal plasma: recent progress and future possibilitiesHum Reprod Update20111737238221076134
   PubMed Web of Science ®Google Scholar
• PapageorgiouEAFieglerHRakyanVSites of differential DNA methylation between placenta and peripheral blood: molecular markers for noninvasive prenatal diagnosis of aneuploidiesAm J Pathol20091741609161819349366
   PubMed Web of Science ®Google Scholar
• PapageorgiouEAKaragrigoriouATsalikiEFetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21Nat Med20111751051321378977
   PubMed Web of Science ®Google Scholar
• ChiuRWKAkolakarRZhengYWLNon-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity studyBMJ2011342c740121224326
   PubMed Web of Science ®Google Scholar
• EhrichMDsciuCZwieelhoferTNoninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical settingAm J Obstet Gynecol201120420520821310373
   PubMed Web of Science ®Google Scholar
• BianchiDWPlattLDGoldbergJDMatErnal BLood IS Source to Accurately diagnose fetal aneuploidy (MELISSA) Study GroupGenome-wide fetal aneuploidy detection by maternal plasma DNA sequencingObstet Gynecol201211989090122362253
   PubMed Web of Science ®Google Scholar
• CanickJAKlozaEMLambert-MesserlianGMDNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestationsPrenat Diagn20123273073422585317
   PubMed Web of Science ®Google Scholar
• PalomakiGEKlozaEMLambert-MesserlianGMDNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation studyGenet Med20111391392022005709
   PubMed Web of Science ®Google Scholar
• PalomakiGEDeciuCKlozaEMDNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative studyGenet Med20121429630522281937
   PubMed Web of Science ®Google Scholar
• NortonMEBrarHWeissJNon-Invasive Chromosomal Evaluation (NICE) study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18Am J Obstet Gynecol2012207137e1e822742782
   PubMed Web of Science ®Google Scholar
• SparksAWangEStrubleCSelective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomyPrenat Diagn20123217
   Web of Science ®Google Scholar
• SparksABStrubleCAWangENoninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18Am J Obstet Gynecol2012206319e1e922464072
   PubMed Web of Science ®Google Scholar
• ChiuRWLauTKLeungTNPrenatal exclusion of beta thalassaemia major by examination of maternal plasmaLancet2002360998100012383672
   PubMed Web of Science ®Google Scholar
• PapasavvaTKalikasIKyrriANoninvasive prenatal diagnostic assay for the detection of β-thalassemiaAnn N Y Acad Sci200610714815317108205
   PubMed Web of Science ®Google Scholar
• PapasavvaTKalikasIKyrriAArrayed primer extension for the noninvasive prenatal diagnosis of β-thalassemia based on detection of single nucleotide polymorphismsAnn N Y Acad Sci2008113730233018837964
   PubMed Web of Science ®Google Scholar
• PapassavaTvan EickenWKockxCHigh throughput sequencing enables non-invasive prenatal diagnosis of beta thalassemia using SNPsJ Nucleic Acids Invest2011256
   Google Scholar
• YanT-ZMoQ-HCaiRReliable detection of paternal SNPs within deletion breakpoints for non-invasive prenatal exclusion of homozygous α0-thalassemia in maternal plasmaPLoS One20116e2477921980356
   PubMed Web of Science ®Google Scholar
• HoSSChongSSKoayESMicrosatellite markers within --SEA breakpoints for prenatal diagnosis of HbBarts hydrops fetalisClin Chem20075317317917158194
   PubMed Web of Science ®Google Scholar
• HoSSChongSSKoayESNoninvasive prenatal exclusion of haemoglobin Bart’s using foetal DNA from maternal plasmaPrenat Diagn201030657319960446
   PubMed Web of Science ®Google Scholar
• LiYPage-ChristiaensCGGilleJJNon-invasive prenatal detection of achondroplasia in size-fractionated cell-free DNA by MALDI-TOF MS assayPrenat Diagn200727111717154237
   PubMed Web of Science ®Google Scholar
• LimJHLKimMJKimSYNon-invasive prenatal detection of achondroplasia using circulating fetal DNA in maternal plasmaJ Assist Reprod Genet20112816717220963478
   PubMed Web of Science ®Google Scholar
• González-GonzálezMCGarcia-HoyosMTrujilloMJPrenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasmaPrenat Diag200222946948
   PubMed Web of Science ®Google Scholar
• TsuiNBYKadirRAChanKCAPCR analysis of maternal plasma DNA Noninvasive prenatal diagnosis of hemophiliaBlood20111173684369121263151
   PubMed Web of Science ®Google Scholar
• González-GonzálezMCGarcia-HoyosMTrujillo-TiebasMJImprovement in strategies for the non-invasive prenatal diagnosis of Huntington diseaseJ Assist Reprod Genet20082547748118853247
   PubMed Web of Science ®Google Scholar
• AmicucciPGennarelliMNovelliGPrenatal diagnosis of myotonic dystrophy using fetal DNA obtained from maternal plasmaClin Chem20004630130210657396
   PubMed Web of Science ®Google Scholar
• BonifaziEGullottaFValloLUse of RNA fluorescence in situ hybridization in the prenatal molecular diagnosis of myotonic dystrophy type IClin Chem20065231932216449216
   PubMed Web of Science ®Google Scholar
• BarrettANMcDonnellTCRChanKCADigital PCR analysis of maternal plasma for noninvasive detection of sickle cell anemiaClin Chem2012581026103222451622
   PubMed Web of Science ®Google Scholar
• SifakisSZaravinosAMaizNFirst-trimester maternal plasma cell-free fetal DNA and preeclampsiaAm J Obstet Gynecol2009201472e1e719631923
   PubMed Web of Science ®Google Scholar
• SwaminathanRButtACirculating nucleic acids in plasma and serum: recent developmentsAnn N Y Acad Sci200610751917108186
   PubMed Web of Science ®Google Scholar
• ChimSSTongYKChiuRWDetection of the epigenetic signature of the maspin gene in maternal plasmaProc Natl Acad Sci USA2005102147531475816203989
   PubMed Web of Science ®Google Scholar
• WongBCChiuRWTsuiNBCirculating placental RNA in maternal plasma is associated with a preponderance of 5′ mRNA fragments: implications for non-invasive prenatal diagnosis and monitoringClin Chem2005511786179516081506
   PubMed Web of Science ®Google Scholar
• LázárLNagyBMorvarecAThe correlation of circulating cell-free DNA, cell-free fetal DNA and microRNA 325 levels to clinical characteristics and laboratory parameters in pre-eclampsiaGahanPBCirculating Nucleic Acids in Plasma and SerumBerlinSpringer2010155158
   Google Scholar
• DeansZHillMChittyLSNon-invasive prenatal testing for single gene disorders: exploring the ethicsEur J Hum Genet Epub11282012
   Web of Science ®Google Scholar
• LeglerTJMavrouAFinningKWorkshop report on the extraction of foetal DNA from maternal plasmaPrenat Diagn20072782482917604339
   PubMed Web of Science ®Google Scholar
• EuroGentest [homepage on the Internet] Available from: http://www.eurogentest.orgAccessed March 19, 2013
   Google Scholar
• RAPID [homepage on the Internet] Available from: http://www.rapid.nhs.ukAccessed March 19, 2013
   Google Scholar
• UK NEQAS [homepage on the Internet] Available from: http://www.ukneqas.org.ukAccessed March 19, 2013
   Google Scholar