Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis
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- dc.contributor.author Armengol i Dulcet, Lluísca
- dc.contributor.author Nevado, Juliánca
- dc.contributor.author Serra Juhé, Clara, 1984-ca
- dc.contributor.author Mediano, Carmenca
- dc.contributor.author García Santiago, Fe Amaliaca
- dc.contributor.author García Aragonés, Manelca
- dc.contributor.author Villa Marcos, Olayaca
- dc.contributor.author Mansilla, Elenaca
- dc.contributor.author Preciado, Cristinaca
- dc.contributor.author Fernández, Luisca
- dc.contributor.author Mori, María Ángelesca
- dc.contributor.author García Pérez, Lidiaca
- dc.contributor.author Lapunzina, Pablo Danielca
- dc.contributor.author Pérez Jurado, Luis Albertoca
- dc.date.accessioned 2015-12-09T15:52:52Z
- dc.date.available 2015-12-09T15:52:52Z
- dc.date.issued 2012
- dc.description.abstract Novel methodologies for detection of chromosomal abnormalities have been made available in the recent years but their clinical utility in prenatal settings is still unknown. We have conducted a comparative study of currently available methodologies for detection of chromosomal abnormalities after invasive prenatal sampling.A multicentric collection of a 1-year series of fetal samples with indication for prenatal invasive sampling was simultaneously evaluated using three screening methodologies: (1) karyotype and quantitative fluorescent polymerase chain reaction (QF-PCR), (2) two panels of multiplex ligation-dependent probe amplification (MLPA), and (3) chromosomal microarray-based analysis (CMA) with a targeted BAC microarray. A total of 900 pregnant women provided informed consent to participate (94% acceptance rate). Technical performance was excellent for karyotype, QF-PCR, and CMA (1% failure rate), but relatively poor for MLPA (10% failure). Mean turn-around time (TAT) was 7 days for CMA or MLPA, 25 for karyotype, and two for QF-PCR, with similar combined costs for the different approaches. A total of 57 clinically significant chromosomal aberrations were found (6.3%), with CMA yielding the highest detection rate (32% above other methods). The identification of variants of uncertain clinical significance by CMA (17, 1.9%) tripled that of karyotype and MLPA, but most alterations could be classified as likely benign after proving they all were inherited. High acceptability, significantly higher detection rate and lower TAT, could justify the higher cost of CMA and favor targeted CMA as the best method for detection of chromosomal abnormalities in at-risk pregnancies after invasive prenatal sampling.ca
- dc.format.mimetype application/pdfca
- dc.identifier.citation Armengol L, Nevado J, Serra-Juhé C, Plaja A, Mediano C, García-Santiago FA et al. Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis. Human genetics. 2012;131(3):513-23. DOI: 10.1007/s00439-011-1095-5ca
- dc.identifier.doi http://dx.doi.org/10.1007/s00439-011-1095-5
- dc.identifier.issn 0340-6717
- dc.identifier.uri http://hdl.handle.net/10230/25360
- dc.language.iso engca
- dc.publisher Springerca
- dc.relation.ispartof Human genetics. 2012;131(3):513-23
- dc.rights © The Author(s) 2011. This article is published with open access at Springerlink.com. This article is distributed under the terms of the Creative Commons Attribution Noncommercial License which permits any non commercial use, distribution, and reproduction in any medium, provided the original author(s) and source are credited.ca
- dc.rights.accessRights info:eu-repo/semantics/openAccessca
- dc.rights.uri https://creativecommons.org/licenses/by-nc/4.0/
- dc.subject.other Diagnòstic prenatalca
- dc.subject.other Oligonucleòtidsca
- dc.title Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosisca
- dc.type info:eu-repo/semantics/articleca
- dc.type.version info:eu-repo/semantics/publishedVersionca