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dc.contributor.authorKessler, Rejane Guspt_BR
dc.contributor.authorSanseverino, Maria Teresa Vieirapt_BR
dc.contributor.authorLeistner-Segal, Sandrapt_BR
dc.contributor.authorMagalhães, Jose Antonio de Azevedopt_BR
dc.contributor.authorGiugliani, Robertopt_BR
dc.date.accessioned2010-06-05T04:17:29Zpt_BR
dc.date.issued2008pt_BR
dc.identifier.issn1415-4757pt_BR
dc.identifier.urihttp://hdl.handle.net/10183/23409pt_BR
dc.description.abstractThe study of the fetal karyotype became an important tool for the fetal diagnosis of genetic diseases in the 1970s. Although application of this test has remained very restricted in Brazil, we had 905 referrals for prenatal fetal karyotyping between 1989 and 2007. In 879 cases, a fetal karyotype was obtained. We detected 74 abnormal karyotypes (8.4%), the majority being found when the prior indication was fetal malformation. When obtaining amniotic fluid or chorionic villus samples was difficult, alternative fetal materials (urine, cystic hygroma, cystic lung, intreperitoneal and cerebrospinal fluids) were collected and we had success in obtaining karyotypes in all 13 cases. Although, the option of terminating abnormal pregnancies does not legally exist in Brazil, the information gained in assessing the prognosis of on-going pregnancies or estimating recurrence risks justifies prenatal diagnosis of chromosome abnormalities. We conclude that, in keeping with the policy in most other countries, prenatal cytogenetic analysis is strongly recommended in high-risk pregnancies for fetal abnormalities. However, the unique aspect of this type of study is not its rarity in world terms, but its rarity in Brazil. This argues that Brazilian health policy on prenatal diagnosis requires reforming to make it much more widely available within the public health care sector.en
dc.format.mimetypeapplication/pdf
dc.language.isoengpt_BR
dc.relation.ispartofGenetics and molecular biology. Ribeirão Preto, SP. Vol. 31, n. 4 (Dec. 2008), p. 829-833pt_BR
dc.rightsOpen Accessen
dc.subjectPrenatal diagnosisen
dc.subjectDiagnóstico pré-natalpt_BR
dc.subjectGenética humanapt_BR
dc.subjectChromosomal abnormalitiesen
dc.subjectFetal malformationsen
dc.subjectGenética médicapt_BR
dc.subjectHospitais públicospt_BR
dc.titlePrenatal diagnosis of fetal chromosomal abnormalities : report of an 18-year experience in a Brazilian public hospitalpt_BR
dc.typeArtigo de periódicopt_BR
dc.identifier.nrb000675379pt_BR
dc.type.originNacionalpt_BR


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