Quistes de plexos coroideos y riesgo de cromosomopatía

Resumen

Introduccion

Desde su primera descripcion en 1984, la presencia de quistes de los plexos coroideos (QPC) en la gestacion ha suscitado un amplio debate en torno a su posible relacion con cromosomopatias, fundamentalmente la trisomia 18. Aun hoy persiste cierta controversia

Objetivo

Identificar que factores asociados (caracteristicas del quiste, anomalias asociadas y edad materna en el momento del diagnostico) deberian considerarse para justificar un estudio invasivo del cariotipo, teniendo en cuenta el riesgo de perdida fetal de estas tecnicas

Material y metodos

Se analizan los datos de una decada (enero de 1991-diciembre de 2000), correspondientes a 26.500 fetos examinados ecograficamente entre la 14 y 22 semanas de gestacion, considerandose como QPC una formacion econegativa de diametro ≥ 3 mm alojada en el espesor del plexo coroideo

Resultados

Se detectaron 366 fetos portadores de QPC (1,38%). Entre estos, 8 presentaron una cromosomopatia, de los que 6 casos se correspondieron con una trisomia 18; otros dos casos fueron una trisomia 21 y una delecion p- del par 6. En los 8 casos, los QPC fueron bilaterales, se hallaron anomalias asociadas y la edad media materna fue de 36,5 anos

Conclusiones

Ante la presencia de QPC durante el segundo trimestre de la gestacion se impone la exploracion fetal detallada en busca de otros posibles marcadores de cromosomopatias, asumiendo que algunos son de dificil identificacion ecografica. En ausencia de estos y a la luz de nuestros resultados, estimado el riesgo de perdida fetal tras amniocentesis en el 1% de los casos, no parece justificada su practica en gestantes sin otros factores de riesgo anadidos

Abstract

Introduction

Since they were first described in 1984, the presence of choroid plexus cysts during pregnancy have stimulated considerable debate concerning their possible relationship with chromosomal anomalies, mainly trisomy 18. Even today, the controversy persists

Objective

To identify which associated factors (cyst characteristics, associated anomalies and maternal age at diagnosis) should be considered to justify invasive karyotyping, bearing in mind that these techniques carry a risk of fetal loss

Material and methods

We analyzed data from one decade (January 1991-December 2000) corresponding to 26,500 fetuses who underwent ultrasound examination between weeks 14 and 22 of gestation. Choroid plexus cysts were considered as an ultrasound-negative formation of at least 3 mm in diameter located within the choroid plexus

Results

Choroid plexus cysts were found in 366 fetuses (1.38%). Of these, eight fetuses presented chromosomal anomalies: six presented trisomy 18, one presented trisomy 21 and one showed chromosomal deletion at 6p. In all eight patients, choroid plexus cysts were bilateral and associated anomalies were detected. Mean maternal age was 36.5 years

Conclusions

When choroid plexus cysts are detected in the second trimester, detailed fetal investigation must be performed to find other possible markers of chromosomal anomalies even though some are difficult to detect ultrasonographically. Because the risk of fetal loss after amniocentesis is estimated at 1%, when other markers are absent, our results suggest that invasive karyotyping does not seem justified in pregnant women without additional risk factors