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Article: Rapid aneuploidy testing (knowing less) versus traditional karyotyping (knowing more) for advanced maternal age: What would be missed, who should decide?

TitleRapid aneuploidy testing (knowing less) versus traditional karyotyping (knowing more) for advanced maternal age: What would be missed, who should decide?
Authors
KeywordsAbortion, induced
Amniocentesis
Aneuploidy
Karyotyping
Prenatal diagnosis
Issue Date2008
PublisherHong Kong Academy of Medicine Press. The Journal's web site is located at http://www.hkmj.org.hk
Citation
Hong Kong Medical Journal, 2008, v. 14 n. 1, p. 6-13 How to Cite?
AbstractObjectives The application of rapid aneuploidy testing as a stand-alone approach in prenatal diagnosis is much debated. The major criticism of this targeted approach is that it will not detect other chromosomal abnormalities that will be picked up by traditional karyotyping. This study aimed to study the nature of such chromosomal abnormalities and whether parents would choose to terminate affected pregnancies. Design Retrospective study on a cytogenetic database. Setting Eight public hospitals in Hong Kong. Participants The karyotype results of 19 517 amniotic fluid cultures performed for advanced maternal age (≥35 years) from 1997 to 2002 were classified according to whether they were detectable by rapid aneuploidy testing. The outcomes of pregnancies with abnormal karyotypes were reviewed from patient records. Results In all, 333 (1.7%) amniotic fluid cultures yielded abnormal karyotypes; 175 (52.6%) of these were detected by rapid aneuploidy testing, and included trisomy 21 (n=94, 28.2%), trisomy 18 or 13 (n=21, 6.3%), and sex chromosome abnormalities (n=60, 18.0%). The other 158 (47.4%) chromosomal abnormalities were not detectable by rapid aneuploidy testing, of which 63 (18.9%) were regarded to be of potential clinical significance and 95 (28.5%) of no clinical significance. Pregnancy outcomes in 327/333 (98.2%) of these patients were retrieved. In total, 143 (42.9%) of these pregnancies were terminated: 93/94 (98.9%) for trisomy 21, 20/21 (95.2%) for trisomy 18 or 13, 19/60 (31.7%) for sex chromosome abnormalities, and 11/63 (17.5%) for other chromosomal abnormalities with potential clinical significance. There were no terminations in the 95 pregnancies in which karyotyping results were regarded to be of no clinical significance. Conclusions 'Knowing less' by the rapid aneuploidy stand-alone testing could miss about half of all chromosomal abnormalities detectable by amniocentesis performed for advanced maternal age. Findings from two fifths of the latter were of potential clinical significance, and the parents chose to terminate one out of six of the corresponding pregnancies. If both techniques are available, parents could have enhanced autonomy to choose.
Persistent Identifierhttp://hdl.handle.net/10722/57403
ISSN
2015 Impact Factor: 0.887
2015 SCImago Journal Rankings: 0.279
References

 

DC FieldValueLanguage
dc.contributor.authorLeung, WCen_HK
dc.contributor.authorLau, ETen_HK
dc.contributor.authorLau, WLen_HK
dc.contributor.authorTang, Ren_HK
dc.contributor.authorWong, SFen_HK
dc.contributor.authorLau, TKen_HK
dc.contributor.authorTse, KTen_HK
dc.contributor.authorWong, SFen_HK
dc.contributor.authorTo, WKen_HK
dc.contributor.authorNg, LKLen_HK
dc.contributor.authorLao, TTen_HK
dc.contributor.authorTang, MHYen_HK
dc.date.accessioned2010-04-12T01:35:36Z-
dc.date.available2010-04-12T01:35:36Z-
dc.date.issued2008en_HK
dc.identifier.citationHong Kong Medical Journal, 2008, v. 14 n. 1, p. 6-13en_HK
dc.identifier.issn1024-2708en_HK
dc.identifier.urihttp://hdl.handle.net/10722/57403-
dc.description.abstractObjectives The application of rapid aneuploidy testing as a stand-alone approach in prenatal diagnosis is much debated. The major criticism of this targeted approach is that it will not detect other chromosomal abnormalities that will be picked up by traditional karyotyping. This study aimed to study the nature of such chromosomal abnormalities and whether parents would choose to terminate affected pregnancies. Design Retrospective study on a cytogenetic database. Setting Eight public hospitals in Hong Kong. Participants The karyotype results of 19 517 amniotic fluid cultures performed for advanced maternal age (≥35 years) from 1997 to 2002 were classified according to whether they were detectable by rapid aneuploidy testing. The outcomes of pregnancies with abnormal karyotypes were reviewed from patient records. Results In all, 333 (1.7%) amniotic fluid cultures yielded abnormal karyotypes; 175 (52.6%) of these were detected by rapid aneuploidy testing, and included trisomy 21 (n=94, 28.2%), trisomy 18 or 13 (n=21, 6.3%), and sex chromosome abnormalities (n=60, 18.0%). The other 158 (47.4%) chromosomal abnormalities were not detectable by rapid aneuploidy testing, of which 63 (18.9%) were regarded to be of potential clinical significance and 95 (28.5%) of no clinical significance. Pregnancy outcomes in 327/333 (98.2%) of these patients were retrieved. In total, 143 (42.9%) of these pregnancies were terminated: 93/94 (98.9%) for trisomy 21, 20/21 (95.2%) for trisomy 18 or 13, 19/60 (31.7%) for sex chromosome abnormalities, and 11/63 (17.5%) for other chromosomal abnormalities with potential clinical significance. There were no terminations in the 95 pregnancies in which karyotyping results were regarded to be of no clinical significance. Conclusions 'Knowing less' by the rapid aneuploidy stand-alone testing could miss about half of all chromosomal abnormalities detectable by amniocentesis performed for advanced maternal age. Findings from two fifths of the latter were of potential clinical significance, and the parents chose to terminate one out of six of the corresponding pregnancies. If both techniques are available, parents could have enhanced autonomy to choose.en_HK
dc.languageengen_HK
dc.publisherHong Kong Academy of Medicine Press. The Journal's web site is located at http://www.hkmj.org.hken_HK
dc.relation.ispartofHong Kong Medical Journalen_HK
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.rightsHong Kong Medical Journal. Copyright © Hong Kong Medical Association.en_HK
dc.subjectAbortion, induceden_HK
dc.subjectAmniocentesisen_HK
dc.subjectAneuploidyen_HK
dc.subjectKaryotypingen_HK
dc.subjectPrenatal diagnosisen_HK
dc.subject.meshAneuploidyen_HK
dc.subject.meshChromosome Disorders - diagnosis - geneticsen_HK
dc.subject.meshDecision Makingen_HK
dc.subject.meshGenetic Screening - methodsen_HK
dc.subject.meshPregnancy Complications - geneticsen_HK
dc.titleRapid aneuploidy testing (knowing less) versus traditional karyotyping (knowing more) for advanced maternal age: What would be missed, who should decide?en_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1024-2708&volume=14&issue=1&spage=6&epage=13&date=2008&atitle=Rapid+aneuploidy+testing+(knowing+less)+versus+traditional+karyotyping+(knowing+more)+for+advanced+maternal+age:+what+would+be+missed,+who+should+decide?en_HK
dc.identifier.emailTang, MHY: mhytang@hkucc.hku.hken_HK
dc.identifier.authorityTang, MHY=rp01701en_HK
dc.description.naturepublished_or_final_versionen_HK
dc.identifier.pmid18239237en_HK
dc.identifier.scopuseid_2-s2.0-41649104904en_HK
dc.identifier.hkuros146645-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-41649104904&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume14en_HK
dc.identifier.issue1en_HK
dc.identifier.spage6en_HK
dc.identifier.epage13en_HK
dc.publisher.placeHong Kongen_HK
dc.identifier.scopusauthoridLeung, WC=7201504435en_HK
dc.identifier.scopusauthoridLau, ET=7103086081en_HK
dc.identifier.scopusauthoridLau, WL=12142218500en_HK
dc.identifier.scopusauthoridTang, R=7202300287en_HK
dc.identifier.scopusauthoridWong, SF=55451151100en_HK
dc.identifier.scopusauthoridLau, TK=34768523800en_HK
dc.identifier.scopusauthoridTse, KT=55166469900en_HK
dc.identifier.scopusauthoridWong, SF=7404591050en_HK
dc.identifier.scopusauthoridTo, WK=36933508800en_HK
dc.identifier.scopusauthoridNg, LKL=25630698100en_HK
dc.identifier.scopusauthoridLao, TT=7005722132en_HK
dc.identifier.scopusauthoridTang, MHY=8943401300en_HK

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