dc.creatorKessler, Rejane Gus
dc.creatorSanseverino, Maria Teresa Vieira
dc.creatorLeistner-Segal, Sandra
dc.creatorMagalhães, Jose Antonio de Azevedo
dc.creatorGiugliani, Roberto
dc.date2010-06-05T04:17:29Z
dc.date2008
dc.identifier1415-4757
dc.identifierhttp://hdl.handle.net/10183/23409
dc.identifier000675379
dc.descriptionThe 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.
dc.formatapplication/pdf
dc.languageeng
dc.relationGenetics and molecular biology. Ribeirão Preto, SP. Vol. 31, n. 4 (Dec. 2008), p. 829-833
dc.rightsOpen Access
dc.subjectPrenatal diagnosis
dc.subjectChromosomal abnormalities
dc.subjectFetal malformations
dc.subjectDiagnóstico pré-natal
dc.subjectGenética humana
dc.subjectGenética médica
dc.subjectHospitais públicos
dc.titlePrenatal diagnosis of fetal chromosomal abnormalities : report of an 18-year experience in a Brazilian public hospital
dc.typeArtigo de periódico
dc.typeNacional


Este ítem pertenece a la siguiente institución