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Article: Full karyotyping, rapid aneuploidy diagnosis or both when invasive prenatal testing is performed for diagnosis of thalassaemia?

TitleFull karyotyping, rapid aneuploidy diagnosis or both when invasive prenatal testing is performed for diagnosis of thalassaemia?
Authors
KeywordsKaryotyping
Rapid aneuploidy diagnosis
Thalassaemia
Issue Date2006
PublisherOxford University Press. The Journal's web site is located at http://molehr.oxfordjournals.org/
Citation
Molecular Human Reproduction, 2006, v. 12 n. 1, p. 55-59 How to Cite?
AbstractA retrospective study was performed to compare the detection rate of chromosomal abnormalities by different approaches of full karyotyping, rapid aneuploidy diagnosis (RAD) or both when invasive prenatal testing is performed for diagnosis of thalassaemia. The karyotype results of 1120 prenatal samples obtained from thalassaemia couples from January 1985 to December 2002 in a referral centre for prenatal diagnosis were studied. The detection rate of chromosomal abnormalities by four different approaches were compared: (i) karyotyping for all samples; (ii) RAD (21,18,13,X,Y) for all samples; (iii) RAD for all samples + karyotyping for cases with ultrasound abnormalities; and (iv) RAD (21,18,13) for all + RAD (X,Y) for cases with ultrasound abnormalities consistent with Turner syndrome + karyotyping for cases with ultrasound abnormalities. Normal karyotypes were found in 1103 samples (98.5%). There were 17 cases (1.5%) of chromosomal abnormalities: four cases (0.36%) were clinically significant, eight cases (0.7%) were of borderline clinical significance and five cases (0.44%) were not confirmed by subsequent prenatal or postnatal tests. The incidences of autosomal (7/1120 = 0.63%) and sex chromosomal (5/1120 = 0.45%) abnormalities were not higher than those (0.41 and 0.22%, respectively) from newborn surveys (Hook and Hamerton, 1977) (T=P = 0.398 and 0.216, respectively). Approach 1 would detect all 17 chromosomal abnormalities. Approach 2 would detect three of four clinically significant chromosomal abnormalities but not detect six of eight chromosomal abnormalities of borderline clinical significance and three of five chromosomal abnormalities not confirmed by subsequent prenatal or postnatal tests. Approach 3, in addition, would be able to detect all four clinically significant chromosomal abnormalities. Approach 4 would detect all four clinically significant chromosomal abnormalities but would not detect seven of eight chromosomal abnormalities of borderline clinical significance and four of five chromosomal abnormalities not confirmed by subsequent prenatal or postnatal tests. RAD (21,18,13) for all + RAD (X,Y) for cases with ultrasound abnormalities consistent with Turner syndrome + karyotyping for cases with ultrasound abnormalities seemed to be the best approach for the detection of chromosomal abnormalities when invasive prenatal testing is performed for diagnosis of thalassaemia. © 2006 Oxford University Press.
Persistent Identifierhttp://hdl.handle.net/10722/77929
ISSN
2015 Impact Factor: 3.943
2015 SCImago Journal Rankings: 1.611
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorTse, KYen_HK
dc.contributor.authorLeung, WCen_HK
dc.contributor.authorLeung, KYen_HK
dc.contributor.authorLee, CPen_HK
dc.contributor.authorNg, LKLen_HK
dc.contributor.authorLau, ETen_HK
dc.contributor.authorChan, Ven_HK
dc.contributor.authorTang, MHYen_HK
dc.date.accessioned2010-09-06T07:37:18Z-
dc.date.available2010-09-06T07:37:18Z-
dc.date.issued2006en_HK
dc.identifier.citationMolecular Human Reproduction, 2006, v. 12 n. 1, p. 55-59en_HK
dc.identifier.issn1360-9947en_HK
dc.identifier.urihttp://hdl.handle.net/10722/77929-
dc.description.abstractA retrospective study was performed to compare the detection rate of chromosomal abnormalities by different approaches of full karyotyping, rapid aneuploidy diagnosis (RAD) or both when invasive prenatal testing is performed for diagnosis of thalassaemia. The karyotype results of 1120 prenatal samples obtained from thalassaemia couples from January 1985 to December 2002 in a referral centre for prenatal diagnosis were studied. The detection rate of chromosomal abnormalities by four different approaches were compared: (i) karyotyping for all samples; (ii) RAD (21,18,13,X,Y) for all samples; (iii) RAD for all samples + karyotyping for cases with ultrasound abnormalities; and (iv) RAD (21,18,13) for all + RAD (X,Y) for cases with ultrasound abnormalities consistent with Turner syndrome + karyotyping for cases with ultrasound abnormalities. Normal karyotypes were found in 1103 samples (98.5%). There were 17 cases (1.5%) of chromosomal abnormalities: four cases (0.36%) were clinically significant, eight cases (0.7%) were of borderline clinical significance and five cases (0.44%) were not confirmed by subsequent prenatal or postnatal tests. The incidences of autosomal (7/1120 = 0.63%) and sex chromosomal (5/1120 = 0.45%) abnormalities were not higher than those (0.41 and 0.22%, respectively) from newborn surveys (Hook and Hamerton, 1977) (T=P = 0.398 and 0.216, respectively). Approach 1 would detect all 17 chromosomal abnormalities. Approach 2 would detect three of four clinically significant chromosomal abnormalities but not detect six of eight chromosomal abnormalities of borderline clinical significance and three of five chromosomal abnormalities not confirmed by subsequent prenatal or postnatal tests. Approach 3, in addition, would be able to detect all four clinically significant chromosomal abnormalities. Approach 4 would detect all four clinically significant chromosomal abnormalities but would not detect seven of eight chromosomal abnormalities of borderline clinical significance and four of five chromosomal abnormalities not confirmed by subsequent prenatal or postnatal tests. RAD (21,18,13) for all + RAD (X,Y) for cases with ultrasound abnormalities consistent with Turner syndrome + karyotyping for cases with ultrasound abnormalities seemed to be the best approach for the detection of chromosomal abnormalities when invasive prenatal testing is performed for diagnosis of thalassaemia. © 2006 Oxford University Press.en_HK
dc.languageengen_HK
dc.publisherOxford University Press. The Journal's web site is located at http://molehr.oxfordjournals.org/en_HK
dc.relation.ispartofMolecular Human Reproductionen_HK
dc.rightsMolecular Human Reproduction. Copyright © Oxford University Press.en_HK
dc.subjectKaryotypingen_HK
dc.subjectRapid aneuploidy diagnosisen_HK
dc.subjectThalassaemiaen_HK
dc.subject.meshAdolescenten_HK
dc.subject.meshAdulten_HK
dc.subject.meshAneuploidyen_HK
dc.subject.meshFemaleen_HK
dc.subject.meshHumansen_HK
dc.subject.meshKaryotypingen_HK
dc.subject.meshMiddle Ageden_HK
dc.subject.meshPregnancyen_HK
dc.subject.meshPrenatal Diagnosisen_HK
dc.subject.meshRetrospective Studiesen_HK
dc.subject.meshThalassemia - diagnosis - geneticsen_HK
dc.titleFull karyotyping, rapid aneuploidy diagnosis or both when invasive prenatal testing is performed for diagnosis of thalassaemia?en_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1360-9947&volume=12&issue=1&spage=55&epage=59&date=2006&atitle=Full+karyotyping,+rapid+aneuploidy+diagnosis+or+both+when+invasive+prenatal+testing+is+performed+for+diagnosis+of+thalassaemia?en_HK
dc.identifier.emailChan, V: vnychana@hkucc.hku.hken_HK
dc.identifier.emailTang, MHY: mhytang@hkucc.hku.hken_HK
dc.identifier.authorityChan, V=rp00320en_HK
dc.identifier.authorityTang, MHY=rp01701en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1093/molehr/gal003en_HK
dc.identifier.pmid16421217en_HK
dc.identifier.scopuseid_2-s2.0-33645105183en_HK
dc.identifier.hkuros117269en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-33645105183&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume12en_HK
dc.identifier.issue1en_HK
dc.identifier.spage55en_HK
dc.identifier.epage59en_HK
dc.identifier.isiWOS:000235923200010-
dc.publisher.placeUnited Kingdomen_HK
dc.identifier.scopusauthoridTse, KY=8876026900en_HK
dc.identifier.scopusauthoridLeung, WC=7201504435en_HK
dc.identifier.scopusauthoridLeung, KY=8247106900en_HK
dc.identifier.scopusauthoridLee, CP=25621639100en_HK
dc.identifier.scopusauthoridNg, LKL=25630698100en_HK
dc.identifier.scopusauthoridLau, ET=7103086081en_HK
dc.identifier.scopusauthoridChan, V=7202654865en_HK
dc.identifier.scopusauthoridTang, MHY=8943401300en_HK
dc.identifier.citeulike551649-

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