The Early Amniocentesis: Cytogenetic Study in 505 Pregnant Amniocentese Precoce: Estudo Citogenético Em 505 Gestantes

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

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Bernal Parra, Luz Mery

Gollop, Thomaz Rafael

Naccache, Nadyr

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Universidad Colegio Mayor de Cundinamarca

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Abstract

El diagnóstico citogenético en líquido amniótico obtenido por amniocentesis precoz (AP) es una alternativa a la embarazada de primer trimestre. El objetivo de este trabajo fue investigar el tipo y la frecuencia de anormalidades cromosómicas encontradas en muestras de líquido amniótico obtenido por medio de esa técnica de colecta. En un periodo de 5 años, 531 AP fueron realizadas en 505 pacientes (479 gestaciones únicas y 26 gemelares), con edad gestacional variando de 12 0/7 a 14 6/7 semanas. La principal indicación para la realización del procedimiento fue edad materna avanzada (66,3% de los casos). Los cultivos fueron establecidos en medio Chang y Amniomax (cultivo en frasco). El tiempo de colecta para la obtención de las preparaciones citogenéticas varió de 7 a 22 días (15,5 ± 2,8). Por lo menos 25 células fueron analizadas por paciente. El tiempo de entrega de resultados varió de 12 a 25 días (18,7±2,8 días). La frecuencia de éxito de cultivo fue del 98,7%. Cariotipos anormales fueron identificados en 22 casos (4,2%), siendo tres (0,6%) rearreglos cromosómicos equilibrados y 19 (3,6%) anomalías cromosómicas no equilibradas. De estas, la anormalidad cromosómica más frecuente fue la trisomía del cromosoma 21 (27,3%). Fueron identificados cinco casos de cromosomas marcadores, tres en forma de mosaico. Fueron confirmados seis (18,2%) resultados anormales detectados en Vellosidad Corial (VC). La frecuencia de pseudomosaicismo encontrada fue del 2,3%. Nuestros datos confirman la precisión del estudio citogenético en líquido amniótico obtenido por AP. Con procedimientos de rutina bien establecidos y protocolos adecuadamente estandarizados en el laboratorio de diagnóstico prenatal, se aumenta el éxito de los cultivos de células de líquido amniótico obtenido por AP y se reduce ...

Cytogenetic diagnosis in amniotic fluid after early amniocentesis is an alternative to woman in the first trimester of pregnancy. The aim of this study was to ascertain the type and frequency of chromosomal aberrations in amniotic fluid samples collected after early amniocentesis (EA). In the period of five years, 531 EA were carried out in 505 patients (479 single and 26 multiple gestations) the gestational age of whom varied between 12 + 0/7 - 14 + 6/7 weeks + days. The main indication for offering the procedure was advanced maternal age (66.3% cases). Cultures were established in Chang or Amniomax media, using flask incubation. The time to obtain the cytogenetic preparations ranged from 7 to 22 days (15,5± 2.8m ±s.d.). At least 25 cells were analyzed per patient. The time to provide the cytogenetic results ranged from 12 to 25 days (18.7± 2.8 days, m ±s.d). The culture success rate was 98.7%. Abnormal karyotypes were identified in 22 cases (4.2%); three (0.6%) of these were balanced and 19 (3.6%) were unbalanced chromosomal rearrangements. The most frequent unbalanced chromosomal aberration was trisomy 21 (27.3%). Five cases of marker chromosomes were identified, three of which were mosaic. Six abnormal results found in chorionic villus sampling were confirmed. The frequency of pseudomosaicism was 2.3%. Our data confirm the accuracy of cytogenetic studies on amniotic fluid collected through EA. When established routine procedures and standardized protocols are used, the incidence of culture success increases significantly, and the mean time to deliver the results decreases.

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Amniocentesis Precoz: Estudio Citogenético en 505 Embarazadas