Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 1 de 1
Filtrar
Añadir filtros








Intervalo de año
1.
Korean Journal of Fertility and Sterility ; : 223-232, 2003.
Artículo en Coreano | WPRIM | ID: wpr-115411

RESUMEN

OBJECTIVE: The aim of the present study was to evaluate the clinical efficiency of fluorescent in situ hybridization (FISH) in the prenatal diagnosis of chromosomal aneuploidy. METHODS: We reviewed data of 268 cases to identify women undergoing genetic amniocentesis at cytogenetic laboratory, from January 2000 to December 2002. Amniotic fluid was submitted for both rapid FISH on uncultured interphase amniocytes using a commercially available DNA probe for chromosome 13, 18, 21, X, Y and standard karyotyping on cultured metaphase amniocytes. Results from FISH and full karyotype were compared. RESULTS: There were 251 cases (84%) normal and 17 cases (16%) abnormal in FISH results. All 17 cases of trisomy 13, 18, 21 including two cases of mosaicism and sex chromosome aneuploidies which are detected by FISH were confirmed with conventional cytogenetics and there was no false positive result. Twenty two cases had karyotypically proven abnormalities that could not have been detected by the targeted FISH. CONCLUSION: Interphase FISH analysis of uncultured amniotic fluid cells has been shown to be an effective and reliable technique for rapid fetal aneuploidy screening during pregnancy as an adjunctive test to conventional cytogenetics.


Asunto(s)
Femenino , Humanos , Embarazo , Amniocentesis , Líquido Amniótico , Aneuploidia , Cromosomas Humanos Par 13 , Citogenética , ADN , Fluorescencia , Hibridación in Situ , Hibridación Fluorescente in Situ , Interfase , Cariotipo , Cariotipificación , Tamizaje Masivo , Metafase , Mosaicismo , Diagnóstico Prenatal , Cromosomas Sexuales , Trisomía
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA