Repositório Digital

A- A A+

Prenatal diagnosis of fetal chromosomal abnormalities : report of an 18-year experience in a Brazilian public hospital

.

Prenatal diagnosis of fetal chromosomal abnormalities : report of an 18-year experience in a Brazilian public hospital

Mostrar registro completo

Estatísticas

Título Prenatal diagnosis of fetal chromosomal abnormalities : report of an 18-year experience in a Brazilian public hospital
Autor Kessler, Rejane Gus
Sanseverino, Maria Teresa Vieira
Leistner-Segal, Sandra
Magalhães, Jose Antonio de Azevedo
Giugliani, Roberto
Abstract 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.
Contido em Genetics and molecular biology. Ribeirão Preto, SP. Vol. 31, n. 4 (Dec. 2008), p. 829-833
Assunto Diagnóstico pré-natal
Genética humana
Genetica medica
Hospitais públicos
[en] Chromosomal abnormalities
[en] Fetal malformations
[en] Prenatal diagnosis
Origem Nacional
Tipo Artigo de periódico
URI http://hdl.handle.net/10183/23409
Arquivos Descrição Formato
000675379.pdf (58.60Kb) Texto completo (inglês) Adobe PDF Visualizar/abrir

Este item está licenciado na Creative Commons License

Este item aparece na(s) seguinte(s) coleção(ões)


Mostrar registro completo

Percorrer



  • O autor é titular dos direitos autorais dos documentos disponíveis neste repositório e é vedada, nos termos da lei, a comercialização de qualquer espécie sem sua autorização prévia.
    Projeto gráfico elaborado pelo Caixola - Clube de Criação Fabico/UFRGS Powered by DSpace software, Version 1.8.1.