Prenatal diagnosis of fetal chromosomal abnormalities : report of an 18-year experience in a Brazilian public hospital
Autor(a) principal: | |
---|---|
Data de Publicação: | 2008 |
Outros Autores: | , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UFRGS |
Texto Completo: | http://hdl.handle.net/10183/23409 |
Resumo: | The 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. |
id |
UFRGS-2_325e9e7db93a1e89e20f4fbb30bc1ec9 |
---|---|
oai_identifier_str |
oai:www.lume.ufrgs.br:10183/23409 |
network_acronym_str |
UFRGS-2 |
network_name_str |
Repositório Institucional da UFRGS |
repository_id_str |
|
spelling |
Kessler, Rejane GusSanseverino, Maria Teresa VieiraLeistner-Segal, SandraMagalhães, Jose Antonio de AzevedoGiugliani, Roberto2010-06-05T04:17:29Z20081415-4757http://hdl.handle.net/10183/23409000675379The 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.application/pdfengGenetics and molecular biology. Ribeirão Preto, SP. Vol. 31, n. 4 (Dec. 2008), p. 829-833Diagnóstico pré-natalGenética humanaGenética médicaHospitais públicosPrenatal diagnosisChromosomal abnormalitiesFetal malformationsPrenatal diagnosis of fetal chromosomal abnormalities : report of an 18-year experience in a Brazilian public hospitalinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/otherinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFRGSinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSORIGINAL000675379.pdf000675379.pdfTexto completo (inglês)application/pdf58602http://www.lume.ufrgs.br/bitstream/10183/23409/1/000675379.pdf4d711604e1793a7d72d679a8d7d2d928MD51TEXT000675379.pdf.txt000675379.pdf.txtExtracted Texttext/plain22020http://www.lume.ufrgs.br/bitstream/10183/23409/2/000675379.pdf.txt645cce5a616541c5682b6f2f214c6079MD52THUMBNAIL000675379.pdf.jpg000675379.pdf.jpgGenerated Thumbnailimage/jpeg1832http://www.lume.ufrgs.br/bitstream/10183/23409/3/000675379.pdf.jpg66b860befe3c2b7e93a962c13d34717cMD5310183/234092018-10-11 08:38:03.124oai:www.lume.ufrgs.br:10183/23409Repositório de PublicaçõesPUBhttps://lume.ufrgs.br/oai/requestopendoar:2018-10-11T11:38:03Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS)false |
dc.title.pt_BR.fl_str_mv |
Prenatal diagnosis of fetal chromosomal abnormalities : report of an 18-year experience in a Brazilian public hospital |
title |
Prenatal diagnosis of fetal chromosomal abnormalities : report of an 18-year experience in a Brazilian public hospital |
spellingShingle |
Prenatal diagnosis of fetal chromosomal abnormalities : report of an 18-year experience in a Brazilian public hospital Kessler, Rejane Gus Diagnóstico pré-natal Genética humana Genética médica Hospitais públicos Prenatal diagnosis Chromosomal abnormalities Fetal malformations |
title_short |
Prenatal diagnosis of fetal chromosomal abnormalities : report of an 18-year experience in a Brazilian public hospital |
title_full |
Prenatal diagnosis of fetal chromosomal abnormalities : report of an 18-year experience in a Brazilian public hospital |
title_fullStr |
Prenatal diagnosis of fetal chromosomal abnormalities : report of an 18-year experience in a Brazilian public hospital |
title_full_unstemmed |
Prenatal diagnosis of fetal chromosomal abnormalities : report of an 18-year experience in a Brazilian public hospital |
title_sort |
Prenatal diagnosis of fetal chromosomal abnormalities : report of an 18-year experience in a Brazilian public hospital |
author |
Kessler, Rejane Gus |
author_facet |
Kessler, Rejane Gus Sanseverino, Maria Teresa Vieira Leistner-Segal, Sandra Magalhães, Jose Antonio de Azevedo Giugliani, Roberto |
author_role |
author |
author2 |
Sanseverino, Maria Teresa Vieira Leistner-Segal, Sandra Magalhães, Jose Antonio de Azevedo Giugliani, Roberto |
author2_role |
author author author author |
dc.contributor.author.fl_str_mv |
Kessler, Rejane Gus Sanseverino, Maria Teresa Vieira Leistner-Segal, Sandra Magalhães, Jose Antonio de Azevedo Giugliani, Roberto |
dc.subject.por.fl_str_mv |
Diagnóstico pré-natal Genética humana Genética médica Hospitais públicos |
topic |
Diagnóstico pré-natal Genética humana Genética médica Hospitais públicos Prenatal diagnosis Chromosomal abnormalities Fetal malformations |
dc.subject.eng.fl_str_mv |
Prenatal diagnosis Chromosomal abnormalities Fetal malformations |
description |
The 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. |
publishDate |
2008 |
dc.date.issued.fl_str_mv |
2008 |
dc.date.accessioned.fl_str_mv |
2010-06-05T04:17:29Z |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/other |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10183/23409 |
dc.identifier.issn.pt_BR.fl_str_mv |
1415-4757 |
dc.identifier.nrb.pt_BR.fl_str_mv |
000675379 |
identifier_str_mv |
1415-4757 000675379 |
url |
http://hdl.handle.net/10183/23409 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.ispartof.pt_BR.fl_str_mv |
Genetics and molecular biology. Ribeirão Preto, SP. Vol. 31, n. 4 (Dec. 2008), p. 829-833 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.source.none.fl_str_mv |
reponame:Repositório Institucional da UFRGS instname:Universidade Federal do Rio Grande do Sul (UFRGS) instacron:UFRGS |
instname_str |
Universidade Federal do Rio Grande do Sul (UFRGS) |
instacron_str |
UFRGS |
institution |
UFRGS |
reponame_str |
Repositório Institucional da UFRGS |
collection |
Repositório Institucional da UFRGS |
bitstream.url.fl_str_mv |
http://www.lume.ufrgs.br/bitstream/10183/23409/1/000675379.pdf http://www.lume.ufrgs.br/bitstream/10183/23409/2/000675379.pdf.txt http://www.lume.ufrgs.br/bitstream/10183/23409/3/000675379.pdf.jpg |
bitstream.checksum.fl_str_mv |
4d711604e1793a7d72d679a8d7d2d928 645cce5a616541c5682b6f2f214c6079 66b860befe3c2b7e93a962c13d34717c |
bitstream.checksumAlgorithm.fl_str_mv |
MD5 MD5 MD5 |
repository.name.fl_str_mv |
Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS) |
repository.mail.fl_str_mv |
|
_version_ |
1801224718559215616 |