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Article: Assessing discrepant findings between QF-PCR on uncultured prenatal samples and karyotyping on long-term culture

TitleAssessing discrepant findings between QF-PCR on uncultured prenatal samples and karyotyping on long-term culture
Authors
Issue Date2009
PublisherJohn Wiley & Sons Ltd. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/2252
Citation
Prenatal Diagnosis, 2009, v. 29 n. 2, p. 151-155 How to Cite?
AbstractObjective To assess the prevalence of discrepant results found between quantitative fluorescent polymerase chain reaction(QF-PCR) analysis on uncultured prenatal samples and karyotyping on long-term culture. Method Results of QF-PCR from 1932 amniotic fluid(AF) and 1132 chorionic villus(CV) samples collected from September 1999 to February 2008 were analyzed. Nature of discrepancies was categorized for normal or abnormal results from uncultured and cultured samples. Results A total of nine(0.8%) discrepant cases were found in the CV and six(0.3%) in AF samples. Three abnormal results involving trisomy 18 or mosaic trisomy 13 showed normal karyotype with one representing complete discordance. There were three QF-PCR reports with initial mosaic trisomy 21 and five cases involving sex chromosome aneuploidy showing complete trisomy 21 and 45,X, respectively, after long-term culture. Conclusions CV(0.8%) and AF(0.3%) samples showed discrepant results after culturing and 40% of discrepancy involved the sex chromosomes. QF-PCR on long-term culture was concordant with karyotyping results meaning that QF-PCR is technically sound. Discrepant PCR findings in uncultured prenatal samples likely arose from mosaicism or preferential cell culture. Limitations in abnormal QF-PCR results may be discussed with couples before further action. Copyright © 2009 John Wiley & Sons, Ltd.
Persistent Identifierhttp://hdl.handle.net/10722/180693
ISSN
2015 Impact Factor: 3.043
2015 SCImago Journal Rankings: 1.450
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorLau, ETen_US
dc.contributor.authorTang, Len_US
dc.contributor.authorWong, Cen_US
dc.contributor.authorHang, LYen_US
dc.contributor.authorGhosh, Aen_US
dc.contributor.authorCleung, Wen_US
dc.contributor.authorSin, WKen_US
dc.contributor.authorLau, TKen_US
dc.contributor.authorKung, YYen_US
dc.contributor.authorTang, MHYen_US
dc.date.accessioned2013-01-28T01:41:10Z-
dc.date.available2013-01-28T01:41:10Z-
dc.date.issued2009en_US
dc.identifier.citationPrenatal Diagnosis, 2009, v. 29 n. 2, p. 151-155en_US
dc.identifier.issn0197-3851en_US
dc.identifier.urihttp://hdl.handle.net/10722/180693-
dc.description.abstractObjective To assess the prevalence of discrepant results found between quantitative fluorescent polymerase chain reaction(QF-PCR) analysis on uncultured prenatal samples and karyotyping on long-term culture. Method Results of QF-PCR from 1932 amniotic fluid(AF) and 1132 chorionic villus(CV) samples collected from September 1999 to February 2008 were analyzed. Nature of discrepancies was categorized for normal or abnormal results from uncultured and cultured samples. Results A total of nine(0.8%) discrepant cases were found in the CV and six(0.3%) in AF samples. Three abnormal results involving trisomy 18 or mosaic trisomy 13 showed normal karyotype with one representing complete discordance. There were three QF-PCR reports with initial mosaic trisomy 21 and five cases involving sex chromosome aneuploidy showing complete trisomy 21 and 45,X, respectively, after long-term culture. Conclusions CV(0.8%) and AF(0.3%) samples showed discrepant results after culturing and 40% of discrepancy involved the sex chromosomes. QF-PCR on long-term culture was concordant with karyotyping results meaning that QF-PCR is technically sound. Discrepant PCR findings in uncultured prenatal samples likely arose from mosaicism or preferential cell culture. Limitations in abnormal QF-PCR results may be discussed with couples before further action. Copyright © 2009 John Wiley & Sons, Ltd.en_US
dc.languageengen_US
dc.publisherJohn Wiley & Sons Ltd. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/2252en_US
dc.relation.ispartofPrenatal Diagnosisen_US
dc.subject.meshAmniotic Fluid - Chemistryen_US
dc.subject.meshAneuploidyen_US
dc.subject.meshChorionic Villi - Chemistryen_US
dc.subject.meshDna - Chemistry - Geneticsen_US
dc.subject.meshFemaleen_US
dc.subject.meshHumansen_US
dc.subject.meshKaryotyping - Methodsen_US
dc.subject.meshPolymerase Chain Reaction - Methodsen_US
dc.subject.meshPregnancyen_US
dc.subject.meshTandem Repeat Sequencesen_US
dc.titleAssessing discrepant findings between QF-PCR on uncultured prenatal samples and karyotyping on long-term cultureen_US
dc.typeArticleen_US
dc.identifier.emailTang, MHY: mhytang@hkucc.hku.hken_US
dc.identifier.authorityTang, MHY=rp01701en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1002/pd.2194en_US
dc.identifier.pmid19180578-
dc.identifier.scopuseid_2-s2.0-59649122688en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-59649122688&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume29en_US
dc.identifier.issue2en_US
dc.identifier.spage151en_US
dc.identifier.epage155en_US
dc.identifier.isiWOS:000263578900007-
dc.publisher.placeUnited Kingdomen_US
dc.identifier.scopusauthoridLau, ET=36006491400en_US
dc.identifier.scopusauthoridTang, L=12781255600en_US
dc.identifier.scopusauthoridWong, C=55334074900en_US
dc.identifier.scopusauthoridHang, LY=41361335400en_US
dc.identifier.scopusauthoridGhosh, A=7403963873en_US
dc.identifier.scopusauthoridCLeung, W=41361051100en_US
dc.identifier.scopusauthoridSin, WK=36752630100en_US
dc.identifier.scopusauthoridLau, TK=24491963900en_US
dc.identifier.scopusauthoridKung, YY=8569546700en_US
dc.identifier.scopusauthoridTang, MHY=8943401300en_US

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