Fluorescence in Situ Hybridization (Fish) in Samples of Amniotic Fluid Obtained By Early Amniocentesis

Bernal Parra, Luz Mery; Gollop, Thomaz Rafael; Naccache, Nadyr

dc.creator	Bernal Parra, Luz Mery
dc.creator	Gollop, Thomaz Rafael
dc.creator	Naccache, Nadyr
dc.date	2011-12-15
dc.date.accessioned	2019-11-08T21:24:49Z
dc.date.available	2019-11-08T21:24:49Z
dc.identifier	http://hemeroteca.unad.edu.co/index.php/nova/article/view/495
dc.identifier	10.22490/24629448.495
dc.identifier.uri	https://repository.unad.edu.co/handle/10596/29984
dc.description	Fluorescent in situ hybridization can be used to diagnose prenatally the most frequent aneuploidies. Nucleic from non-cultivated fetal cells are used. This is an important advance in prenatal diagnosis. We describe the application of FISH in 15 non-cultivated amniotic fluid samples collected between 12 ± 5/7 and 14 6/7 weeks (m ± 1 s.d. = 13.63 ± 0,52). Amniotic fluid volume ranged from 2 to 4 ml (3,16 ± 0.58). All indications were advanced maternal age. The time to obtain the results ranged from 1 to 5 days (2.13 ± 1.55 days). The times to deliver the cytogenetic results ranged from 13 to 22 days (18.4 ± 3.2). In total, 14 cases (93.33%) were informative. The five aneuploidies diagnosed by FISH were confirmed after the traditional cytogenetic analysis. However, the cytogenetic analysis identified one balanced chromosomal rearrangement [46,XY,t(16;17)(q24;q12)pat] and a case of mosaicism 46.XX/47.XX,+mar. Conducting FISH requires many steps that may prevent results from being obtained; the most important of these steps is to obtain an enough number of nucleic for hybridization. We conclude that the study of aneuploidies in non-cultivated amniocytes should be introduced to the prenatal diagnosis protocol in pregnant women with an increased risk of conceiving an aneuploid fetus.	en-US
dc.description	La hibridación in situ por fluorescencia (FISH) se puede utilizar para diagnosticar prenatalmente las aneuploidías más frecuentes. Se utilizan núcleos interfásicos de células fetales no cultivadas. Este es un avance importante en el diagnóstico prenatal. Se describe la aplicación de la FISH en 15 muestras de líquido amniótico no cultivado extraído entre la 12 ± 7.5 y 14 6/7 semanas de gestación (m ± 1 sd = 13,63 ± 0,52). El volumen de líquido amniótico recolectado oscilo entre de 2 y 4ml (3,16 ± 0,58). Todas las pacientes presentaban como principal indicación para la realización del procedimiento la edad materna avanzada. El tiempo para obtener los resultados varió de 1 a 5 días (2,13 ± 1,55 días). El tiempo de entrega de los resultados citogenéticos osciló entre 13 y 22 días (18,4 ± 3,2). En total, 14 casos (93,33%) fueron informativos. Las cinco aneuploidías diagnosticadas por FISH fueron confirmadas por citogenética tradicional, sin embargo, el análisis citogenético tradicional identificó un caso de rearreglo cromosómico equilibrado: [46, XY, t (16; 17) (q24; q12) pat] y un caso de mosaicismo: 46,XX/47,XX,+mar. La realización de FISH requiere muchos pasos que pueden impedir que los resultados sean obtenidos, es importante obtener un número suficiente de núcleos para la hibridación. El estudio de aneuploidías en amniocitos no cultivados debe ser introducido en el protocolo de diagnóstico prenatal en mujeres embarazadas con riesgo aumentado de concebir un feto con aneuploidias.	es-ES
dc.format	application/pdf
dc.language	spa
dc.publisher	Universidad Colegio Mayor de Cundinamarca	es-ES
dc.relation	http://hemeroteca.unad.edu.co/index.php/nova/article/view/495/1068
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dc.rights	Copyright (c) 2011 NOVA Publicación en Ciencias Biomédicas	es-ES
dc.rights	http://creativecommons.org/licenses/by/4.0	es-ES
dc.source	NOVA Biomedical Sciences Journal; Vol. 9, Núm. 16 (2011); 129-137	en-US
dc.source	Nova; Vol. 9, Núm. 16 (2011); 129-137	es-ES
dc.source	NOVA Ciências Biomédicas Publicação; Vol. 9, Núm. 16 (2011); 129-137	pt-BR
dc.source	2462-9448
dc.source	1794-2470
dc.subject	Ciencias Naturales,Ciencias Biológicas,Genética y Herencia	es-ES
dc.subject	diagnóstico prenatal; la amniocentesis temprana; la interfase FISH.	es-ES
dc.subject	prenatal diagnosis; early amniocentesis; interphase FISH.	en-US
dc.title	Fluorescence in Situ Hybridization (Fish) in Samples of Amniotic Fluid Obtained By Early Amniocentesis	en-US
dc.title	Hibridación in Situ por Fluorescencia (Fish) en Muestras de Líquido Amniótico Obtenido por Amniocentesis Precoz	es-ES
dc.type	info:eu-repo/semantics/article
dc.type	info:eu-repo/semantics/publishedVersion
dc.type	info:eu-repo/article/published	en-US
dc.type	info:eu-repo/article/published	es-ES
dc.type	info:eu-repo/article/published	pt-BR