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Article: Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma dna sequencing

TitleNoninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma dna sequencing
Authors
Issue Date2011
PublisherPublic Library of Science. The Journal's web site is located at http://www.plosone.org/home.action
Citation
Plos One, 2011, v. 6 n. 7 How to Cite?
AbstractMassively parallel sequencing of DNA molecules in the plasma of pregnant women has been shown to allow accurate and noninvasive prenatal detection of fetal trisomy 21. However, whether the sequencing approach is as accurate for the noninvasive prenatal diagnosis of trisomy 13 and 18 is unclear due to the lack of data from a large sample set. We studied 392 pregnancies, among which 25 involved a trisomy 13 fetus and 37 involved a trisomy 18 fetus, by massively parallel sequencing. By using our previously reported standard z-score approach, we demonstrated that this approach could identify 36.0% and 73.0% of trisomy 13 and 18 at specificities of 92.4% and 97.2%, respectively. We aimed to improve the detection of trisomy 13 and 18 by using a non-repeat-masked reference human genome instead of a repeat-masked one to increase the number of aligned sequence reads for each sample. We then applied a bioinformatics approach to correct GC content bias in the sequencing data. With these measures, we detected all (25 out of 25) trisomy 13 fetuses at a specificity of 98.9% (261 out of 264 non-trisomy 13 cases), and 91.9% (34 out of 37) of the trisomy 18 fetuses at 98.0% specificity (247 out of 252 non-trisomy 18 cases). These data indicate that with appropriate bioinformatics analysis, noninvasive prenatal diagnosis of trisomy 13 and trisomy 18 by maternal plasma DNA sequencing is achievable. © 2011 Chen et al.
Persistent Identifierhttp://hdl.handle.net/10722/164817
ISSN
2015 Impact Factor: 3.057
2015 SCImago Journal Rankings: 1.395
PubMed Central ID
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorChen, EZen_HK
dc.contributor.authorChiu, RWKen_HK
dc.contributor.authorSun, Hen_HK
dc.contributor.authorAkolekar, Ren_HK
dc.contributor.authorChan, KCAen_HK
dc.contributor.authorLeung, TYen_HK
dc.contributor.authorJiang, Pen_HK
dc.contributor.authorZheng, YWLen_HK
dc.contributor.authorLun, FMFen_HK
dc.contributor.authorChan, LYSen_HK
dc.contributor.authorJin, Yen_HK
dc.contributor.authorGo, ATJIen_HK
dc.contributor.authorLau, ETen_HK
dc.contributor.authorTo, WWKen_HK
dc.contributor.authorLeung, WCen_HK
dc.contributor.authorTang, RYKen_HK
dc.contributor.authorAuYeung, SKCen_HK
dc.contributor.authorLam, Hen_HK
dc.contributor.authorKung, YYen_HK
dc.contributor.authorZhang, Xen_HK
dc.contributor.authorvan Vugt, JMGen_HK
dc.contributor.authorMinekawa, Ren_HK
dc.contributor.authorTang, MHYen_HK
dc.contributor.authorWang, Jen_HK
dc.contributor.authorOudejans, CBMen_HK
dc.contributor.authorLau, TKen_HK
dc.contributor.authorNicolaides, KHen_HK
dc.contributor.authorLo, YMDen_HK
dc.date.accessioned2012-09-20T08:10:09Z-
dc.date.available2012-09-20T08:10:09Z-
dc.date.issued2011en_HK
dc.identifier.citationPlos One, 2011, v. 6 n. 7en_HK
dc.identifier.issn1932-6203en_HK
dc.identifier.urihttp://hdl.handle.net/10722/164817-
dc.description.abstractMassively parallel sequencing of DNA molecules in the plasma of pregnant women has been shown to allow accurate and noninvasive prenatal detection of fetal trisomy 21. However, whether the sequencing approach is as accurate for the noninvasive prenatal diagnosis of trisomy 13 and 18 is unclear due to the lack of data from a large sample set. We studied 392 pregnancies, among which 25 involved a trisomy 13 fetus and 37 involved a trisomy 18 fetus, by massively parallel sequencing. By using our previously reported standard z-score approach, we demonstrated that this approach could identify 36.0% and 73.0% of trisomy 13 and 18 at specificities of 92.4% and 97.2%, respectively. We aimed to improve the detection of trisomy 13 and 18 by using a non-repeat-masked reference human genome instead of a repeat-masked one to increase the number of aligned sequence reads for each sample. We then applied a bioinformatics approach to correct GC content bias in the sequencing data. With these measures, we detected all (25 out of 25) trisomy 13 fetuses at a specificity of 98.9% (261 out of 264 non-trisomy 13 cases), and 91.9% (34 out of 37) of the trisomy 18 fetuses at 98.0% specificity (247 out of 252 non-trisomy 18 cases). These data indicate that with appropriate bioinformatics analysis, noninvasive prenatal diagnosis of trisomy 13 and trisomy 18 by maternal plasma DNA sequencing is achievable. © 2011 Chen et al.en_HK
dc.languageengen_US
dc.publisherPublic Library of Science. The Journal's web site is located at http://www.plosone.org/home.actionen_HK
dc.relation.ispartofPLoS ONEen_HK
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.subject.meshChromosomes, Human, Pair 13 - genetics-
dc.subject.meshChromosomes, Human, Pair 18 - genetics-
dc.subject.meshFetus - pathology-
dc.subject.meshPrenatal Diagnosis - methods-
dc.subject.meshTrisomy - diagnosis - genetics-
dc.titleNoninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma dna sequencingen_HK
dc.typeArticleen_HK
dc.identifier.emailTang, MHY: mhytang@hkucc.hku.hken_HK
dc.identifier.authorityTang, MHY=rp01701en_HK
dc.description.naturepublished_or_final_version-
dc.identifier.doi10.1371/journal.pone.0021791en_HK
dc.identifier.pmid21755002-
dc.identifier.pmcidPMC3130771-
dc.identifier.scopuseid_2-s2.0-79959937504en_HK
dc.identifier.hkuros209004en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-79959937504&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume6en_HK
dc.identifier.issue7en_HK
dc.identifier.isiWOS:000292632000029-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridChen, EZ=37030636300en_HK
dc.identifier.scopusauthoridChiu, RWK=7103038413en_HK
dc.identifier.scopusauthoridSun, H=14043861000en_HK
dc.identifier.scopusauthoridAkolekar, R=25724167500en_HK
dc.identifier.scopusauthoridChan, KCA=13403797200en_HK
dc.identifier.scopusauthoridLeung, TY=7202110959en_HK
dc.identifier.scopusauthoridJiang, P=36705929000en_HK
dc.identifier.scopusauthoridZheng, YWL=36877216800en_HK
dc.identifier.scopusauthoridLun, FMF=16205320200en_HK
dc.identifier.scopusauthoridChan, LYS=27171564800en_HK
dc.identifier.scopusauthoridJin, Y=9246670300en_HK
dc.identifier.scopusauthoridGo, ATJI=7005837665en_HK
dc.identifier.scopusauthoridLau, ET=7103086081en_HK
dc.identifier.scopusauthoridTo, WWK=7004294510en_HK
dc.identifier.scopusauthoridLeung, WC=7201504435en_HK
dc.identifier.scopusauthoridTang, RYK=7202300287en_HK
dc.identifier.scopusauthoridAuYeung, SKC=36981160400en_HK
dc.identifier.scopusauthoridLam, H=16022602300en_HK
dc.identifier.scopusauthoridKung, YY=8569546700en_HK
dc.identifier.scopusauthoridZhang, X=35249930300en_HK
dc.identifier.scopusauthoridvan Vugt, JMG=7006760999en_HK
dc.identifier.scopusauthoridMinekawa, R=6506332729en_HK
dc.identifier.scopusauthoridTang, MHY=8943401300en_HK
dc.identifier.scopusauthoridWang, J=8716933500en_HK
dc.identifier.scopusauthoridOudejans, CBM=7003663097en_HK
dc.identifier.scopusauthoridLau, TK=24491963900en_HK
dc.identifier.scopusauthoridNicolaides, KH=7203078780en_HK
dc.identifier.scopusauthoridLo, YMD=7401935391en_HK

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