Short and long term chorion villi culture discordance. Presentation of a case and theme review

We present a prenatal diagnosis case with false negative result in long term villi culture discordant with short term villi culture showing trisomy 21. We discuss possible causes of discordance in this and similar cases and the best way to proceed to ensure correct diagnosis.

Detalhes bibliográficos
Autores: Quiroga de Michelena, María, Huertas, Erasmo, Paredes, Denisse, Diaz, Alicia
Formato: artículo
Estado:Versión publicada
Fecha de publicación:2008
País:Perú
Recursos:Universidad Nacional Mayor de San Marcos
Repositorio:Revistas - Universidad Nacional Mayor de San Marcos
Idioma:español
OAI Identifier:oai:revistasinvestigacion.unmsm.edu.pe:article/1178
Acesso em linha:https://revistasinvestigacion.unmsm.edu.pe/index.php/anales/article/view/1178
Access Level:acceso abierto
Palavra-chave:Biopsia de la vellosidad coriónica
diagnóstico prenatal
anomalías cromosómicas sexuales
síndrome de Down
Chorionic villi sampling
prenatal diagnosis
sex chromosome aberrations
Down syndrome
Descrição
Resumo:We present a prenatal diagnosis case with false negative result in long term villi culture discordant with short term villi culture showing trisomy 21. We discuss possible causes of discordance in this and similar cases and the best way to proceed to ensure correct diagnosis.