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A 26-Year Experience in Chorionic Villus Sampling Prenatal Genetic Diagnosis

2014Journal article Open access
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dc.contributor.authorJorge, P.
dc.contributor.authorMota-Freitas, M.
dc.contributor.authorSantos, R.
dc.contributor.authorSilva, M.
dc.contributor.authorSoares, G.
dc.contributor.authorFortuna, A.
dc.date.accessioned2014-11-04T13:30:39Z
dc.date.available2014-11-04T13:30:39Z
dc.date.issued2014
dc.description.abstractAbstract: This report describes the trends of chorionic villus sampling (CVS) referred for prenatal genetic diagnosis in the past two and a half decades in a Portuguese Center. Our cohort of 491 CVS was mostly performed by the transcervical method at the 12th gestational week. Data collected within the framework of this study relate to the following: sampling method, referral reason versus abnormality and incidence of procedure-related pregnancy loss, that declined to about 0.5% over the last 15 years. The year 2000 represented a change in referral reasons for chorionic tissue collection, shifting from almost exclusively for cytogenetic testing to an increasing number of molecular tests for monogenic disorders. Herein, success rates as well as cytogenetic and/or molecular DNA results are presented. These latter include not only tests for several monogenic disorders, but also aneuploidy and maternal cell contamination screening. This retrospective analysis reiterates that CVS is a safe and reliable first trimester technique for prenatal diagnosis in high genetic risk pregnancies.por
dc.identifier.citationJ. Clin. Med. 2014, 3, 838-848; doi:10.3390/jcm3030838por
dc.identifier.doi10.3390/jcm3030838
dc.identifier.issn2077-0383
dc.identifier.urihttp://hdl.handle.net/10400.16/1724
dc.language.isoengpor
dc.peerreviewedyespor
dc.publisherMDPI - Open Access Publishingpor
dc.relation.publisherversionhttp://www.mdpi.com/2077-0383/3/3/838por
dc.subjectchorionic villus samplingpor
dc.subjectprenatal diagnosispor
dc.subjectprenatal referralspor
dc.subjectmaternal agepor
dc.subjectfetal losspor
dc.subjectchromosomal abnormality/aneuploidypor
dc.subjectmaternal cell contaminationpor
dc.subjectmonogenic disorderspor
dc.titleA 26-Year Experience in Chorionic Villus Sampling Prenatal Genetic Diagnosispor
dc.typejournal article
dspace.entity.typePublication
oaire.citation.conferencePlaceSwitzerlandpor
oaire.citation.endPage848por
oaire.citation.startPage838por
oaire.citation.titleJournal of Clinical Medicinepor
oaire.citation.volume2014(3)por
person.familyNameJorge
person.familyNameFortuna
person.givenNamePaula
person.givenNameAna
person.identifier.ciencia-idFD15-9412-CF3F
person.identifier.orcid0000-0002-6507-222X
person.identifier.orcid0000-0002-1296-5366
person.identifier.scopus-author-id7005566496
person.identifier.scopus-author-id35974338400
rcaap.rightsopenAccesspor
rcaap.typearticlepor
relation.isAuthorOfPublication0c5af743-da0c-4063-b8f2-ba0a859e7229
relation.isAuthorOfPublicationb65d1d1e-7f2c-4f84-8189-2c37e7a2632f
relation.isAuthorOfPublication.latestForDiscoveryb65d1d1e-7f2c-4f84-8189-2c37e7a2632f

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