Ventriculomegalia leve fetal aislada. Comunicación de un caso

La ventriculomegalia es un marcador del desarrollo cerebral anormal por lo cual es causa de preocupación cuando está presente. Tiene una prevalencia de 0,3 a 1/1000 nacidos vivos y es más frecuente en fetos varones. La ventriculomegalia es definida como el diámetro atrioventricular de los ventrículos laterales mayor o igual a 10 mm. La medida de 10-15 mm constituye la ventriculomegalia leve mientras valores > 15 mm constituye la ventriculomegalia severa. La ventriculomegalia puede ser aislada o estar asociada con otras anomalías incluyendo hallazgos estructurales anormales, anomalías cromosómicas o infecciones prenatales en cerca del 50-84% de los casos. Si la ventriculomegalia es leve y aislada, el resultado más frecuente es la normalidad. La sobrevida de los recién nacidos con ventriculomegalia leve aislada es alta, con reportes del 93-98%. La probabilidad de un neurodesarrollo normal es mayor al 90% y no será diferente al de la población general, por lo cual, ante una ventriculomegalia leve aislada, después de una completa evaluación, la gestante debe ser informada que el pronóstico es favorable y que probablemente el niño será considerado normal. Presentamos un caso de ventriculomegalia leve fetal izquierda aislada detectada en la ecografía prenatal de las 20 semanas, a quien se le realizó controles neurosonográficos seriados, amniocentesis genética y estudio de infecciones prenatales, siendo estos dos últimos normales y evidenciándose resolución de la ventriculomegalia, así como control posparto dentro de los límites de la normalidad.

Ventriculomegaly is a marker of abnormal brain development and is a cause for concern when present. It has a prevalence of 0.3-1/1000 live births and is more frequent in male fetuses. Ventriculomegaly is defined as the atrioventricular diameter of the lateral ventricles greater than or equal to 10 mm. A measurement of 10-15 mm constitutes mild ventriculomegaly while values >15 mm constitute severe ventriculomegaly. Ventriculomegaly may be isolated or associated with other anomalies including abnormal structural findings, chromosomal abnormalities or prenatal infections in about 50-84% of cases. If ventriculomegaly is mild and isolated, the most frequent outcome is normal. Survival of newborns with isolated mild ventriculomegaly is high, with reports of 93-98%. The probability of normal neurodevelopment is greater than 90% and will not be different from that of the general population. Therefore, in the presence of isolated mild ventriculomegaly, after a complete evaluation, the pregnant woman should be informed that the prognosis is favorable, and that the child will probably be considered normal. We present a case of isolated mild left ventriculomegaly detected in the prenatal ultrasound at 20 weeks, who underwent serial neurosonographic controls, genetic amniocentesis and study of prenatal infections, the latter two being normal and showing resolution of ventriculomegaly, as well as postpartum control within the limits of normality.

Diagnóstico prenatal de ventriculomegalia e hidrocefalia fetal / Prenatal diagnosis of ventriculomegalia and fetal hydrocephalia

La Ventriculomegalia y la hidrocefalia fetal son enfermedades complejas y multifactoriales. El tamaño del sistema ventricular cambia durante el embarazo excepto el atrio que se mantiene estable entre 6 a 8 mm, desde la 15 a las 40 semanas gestacionales. Cuya incidencia es de hasta 2 por 1000 nacimientos. Puede asociarse con hidrocefalia, pero también puede estar relacionado con disminución del tejido cerebral normal. El desarrollo neurológico puede correlacionarse con la gravedad de la ampliación ventricular, la cual varía según a causa y la presencia de otras malformaciones asociadas. Las causas de ventriculomegalia, son casi las misma de la hidrocefalia, ya que en ambos existe un aumento del perímetro cefálico, pero existe también casos de ventriculomegalia, sin problemas con la cantidad de líquido cefalorraquídeo, como en la atrofia cerebral por infección intracraneana, daño de sustancia blanca y hemorragia focal. Dentro de los criterios prenatales debe destacarse, antecedentes de madre con polihidramnios, hallazgos ultrasonográficos fetales de ventriculomegalia, niveles altos de alfa feto proteína sérica materna o del líquido amniótico. El diagnóstico prenatal se realiza gracias al advenimiento de la ecografía prenatal de alta resolución, logrando observarse la dilatación ventricular de rutina dentro del útero. Ayudado por la resonancia magnética y es confirmado al nacimiento.

Ventriculomegalyand fetal hydrocephalus are complex and multifactorial diseases. The size of the ventricular system changes during pregnancy and the atrium remains between 6 to 8 mm, from 15 to 40 gestational weeks. Whose incidence is up to 2 per 1000 births. It may be associated with hydrocephalus, but it may also be related to the injury of normal brain tissue. Neurological development can be correlated with the severity of ventricular enlargement, which varies according to the cause and the presence of other associatedmalformations. The causes of ventriculomegaly are almost the same as hydrocephalus, and in both cases there is an increase in the cephalic perimeter, but there are also cases of ventriculomegaly, without problems with the amount of cerebrospinal fluid, asin the cerebral atrium due to intracranial infection, damage of white matter and focal hemorrhage. Within the prenatal criteria should be noted, mother's history with polyhydramnios, fetal ultrasound findings of ventriculomegaly, high levels of alpha fetus, maternal serum protein or amniotic fluid. The prenatal diagnosis is made thanks to the advent of high resolution prenatal ultrasound, making it possible to observe routine ventricular dilatation within the uterus. Helped by magnetic resonance and is confirmed at birth.

Defecto amplio del tubo neural: A propósito de un caso / Open neural tube defect: A case report

Los defectos del tubo neural representan la segunda causa de malformación congénita más frecuentes del desarrollo prenatal y constituyen el 10% de las mismas. Su origen suele ser multifactorial, dando lugar a un cierre incompleto o defectuoso del neuroporo anterior y/o posterior, y ocasionando diferentes niveles de defectos en el sistema nervioso central. A pesar de toda la investigación realizada, nuestros conocimientos sobre la etiología genética de esta malformación son todavía muy limitados. Se desconoce cuántos genes pueden conferir riesgo de anomalía en el desarrollo del tubo neural. El diagnóstico se basa principalmente en el estudio ecográfico del sistema nervioso central en el segundo trimestre de la gestación, aunque su valoración en el primer trimestre nos permite una aproximación diagnóstica bastante confiable por la presencia de marcadores ecográficos descritos hace pocos años. Una vez confirmado el diagnóstico el manejo depende (en países como España en donde se permite el aborto) de la voluntad de los padres de continuar o no con la gestación; y en caso de continuar, existen opciones de tratamiento quirúrgico intrauterino o posterior al nacimiento. El pronóstico de esta malformación suele ser variable y depende de localización, tamaño y su asociación o no con hidrocefalia.

Neural tube defects are the second most frequent cause of congenital malformation during prenatal development. They constitute 10% of them. The origin is usually multifactorial, and it results in an incomplete or defective closure of the anterior or posterior neuropore, causing different levels of defects in the central nervous system. Despite all the research done, our knowledge of genetics in this topic is very limited so we don't know how many genes can confer risk of anomaly in the development of the neural tube. Diagnosis is mainly based on the ultrasound study of the central nervous system generally during the second trimester. Nevertheless, assessment in the first trimester allows us a fairly reliable diagnostic approach by means of the echographic markers described a few years ago. Once the diagnosis is confirmed, and if abortion is allowed in the country, the management depends on the parents' willingness to continue or not with the gestation. In case of continuing with it, there are options for intrauterine or post-natal surgical treatment. The prognosis of this malformation is usually variable and depends on location, size and its association or not with hydrocephalus.

Neurological Outcome in Fetuses with Mild and Moderate Ventriculomegaly / Resultado neurológico em fetos com ventriculomegalia leve e moderada

Abstract Introduction Ventriculomegaly (VM) is one the most frequent anomalies detected on prenatal ultrasound. Magnetic resonance imaging (MRI) may enhance diagnostic accuracy and prediction of developmental outcome in newborns. Purpose The aim of this study was to assess the correlation between ultrasound and MRI in fetuses with isolated mild and moderate VM. The secondary aim was to report the neurodevelopmental outcome at 4 years of age. Methods Fetuses with a prenatal ultrasound (brain scan) diagnosis of VM were identified over a 4-year period. Ventriculomegaly was defined as an atrial width of 10- 15 mm that was further divided as mild (10.1-12.0 mm) and moderate (12.1-15.0 mm). Fetuses with VM underwent antenatal as well as postnatal follow-ups by brain scan and MRI. Neurodevelopmental outcome was performed using the Griffiths Mental Development Scales and conducted, where indicated, until 4 years into the postnatal period. Results Sixty-two fetuses were identified. Ventriculomegaly was bilateral in 58% of cases. A stable dilatation was seen in 45% of cases, progression was seen in 13%, and regression of VM was seen in 4.5% respectively. Fetal MRI was performed in 54 fetuses and was concordant with brain scan findings in 85% of cases. Abnormal neurodevelopmental outcomes were seen in 9.6% of cases. Conclusion Fetuses in whom a progression of VM is seen are at a higher risk of developing an abnormal neurodevelopmental outcome. Although brain scan and MRI are substantially in agreement in defining the grade of ventricular dilatation, a low correlation was seen in the evaluation of VM associated with central nervous system (CNS) or non-CNS abnormalities.

Resumo Introdução Ventriculomegalia (VM) é uma das anomalias mais frequente no ultrassom pre-natal. Ressonâncias magnéticas (RM) melhoram a precisão do diagnóstico e previsão do desenvolvimento em recém-nascidos. Objetivo A proposta deste estudo foi avaliar a correlação entre ultrassom e RM em fetos com leve e moderada VM isolada. O objetivo secundário foi reportar o resultado neurológico na idade de 4 anos. Métodos Fetos com diagnóstico pré-natal pelo ultrassom de VM foram identificados na idade de 4 anos. Ventriculomegalia foi definida como medida do átrio do ventrículo lateral entre 10-15 mm, a qual foi subdividida em leve (10,1-12,0 mm) e moderada (12,1-15,0 mm). Fetos com VM foram seguidos nos períodos pré-natal e pós-natal por ultrassom e RM. O resultado neurológico foi realizado usando a escala de desenvolvimento mental de Griffiths, quando indicada, até a idade de 4 anos. Resultados Sessenta e dois fetos foram identificados. Ventriculomegalia bilateral ocorreu sem 58% dos casos. Uma dilatação estável foi observada em 45%, progressiva em 13% e regressiva em 4,5% dos casos, respectivamente. Ressonância magnética fetal foi realizada em 54 fetos, e foi concordante com os achados do ultrassom em 85% dos casos. Desenvolvimento neurológico anormal foi observado em 9,6% dos casos. Conclusão Fetos nos quais ocorreu progressão da VM são de alto risco para desenvolvimento neurológico anormal. Apesar do ultrassom e da RM mostrarem substancial concordância na definição do grau de dilatação ventricular, uma baixa correlação foi vista na avaliação da VM associada ou não com anomalias do sistema nervoso central.

Reference Ranges of Fetal Cerebral Lateral Ventricle Parameters by Ultrasonography / Intervalos de referência para parâmetros do ventrículo lateral de cérebros fetais por ultrassonografia

Abstract Objectives This study was done to evaluate the normal fetal cerebral lateral ventricle dimensions with transabdominal ultrasonography. The atrial width (AW), ventricle-tochoroid measurement (V-C), ventricle-to-hemisphere ratio (VHR), and combined anterior horn measurement (CAHM) were taken. Methods This was a cross-sectional study involving 400 normal singleton pregnant subjects whose gestational ages were between 14 and 40 weeks. Transabdominal sonography was performed to obtain the values of the fetal cerebral lateral ventricle (FCLV) parameters. Data were reported as mean standard deviation (SD) for continuous variables. The degrees of correlation between FCLV parameters and the estimated gestational age (EGA) were obtained using Pearson's correlation. Regression equations were used to generate the reference limits for the FCLV measurements. Results The values of AW, V-C measurements and CAHM increased with advancing gestation. The mean values of the AW, V-C and CAHM from 14 to 40 weeks increased from 6.60 0.94 mm to 9.75 0.07 mm (R2 = 0.114), 0.80 0.00 mm to 1.90 0.14 mm (R2= 0.266), and 6.95 0.06 mm to 23.07 4.02 mm (R2= 0.692) respectively, while the mean VHR decreased from 61.20 1.60% to 42.84 2.91% (R2 = 0.706) over the same period. Conclusion The AW, V-C, and CAHM increase, while VHR decreases with advancing gestation.

Resumo Objetivos O presente estudo objetiva avaliar as dimensões do ventrículo lateral de cérebros fetais por meio de ultrassonografia transabdominal. Foram medidos a largura do átrio (LA), a medida do ventrículo ao coroide (V-C), a razão ventrículo/ hemisfério (RVH), e a medida dos cornos anteriores combinados ( CAC ). Métodos Estudo transversal com 400 grávidas de único feto com idades gestacionais entre 14 e 40 semanas. Sonografias transabdominais foram realizadas para obter os valores dos parâmetros do ventrículo lateral de cérebros fetais (VLCF). Dados foram apresentados em média desvio padrão para variáveis contínuas. Os graus de correlação entre parâmetros de VLCF e idade gestacional estimada foram obtidos usando a correlação de Pearson. Equações de regressão foram usadas para gerar as referências-limite para medidas de VLCF. Resultados Os valores de LA, medida do V-C e CAC aumentaram com o avanço da gestação. Os valores médios de LA, V-C e CAC de 14 a 40 semanas aumentaram de 6,60 0,94 mm a 9,75 0,07 mm (R2 = 0,114), de 0,80 0,00 mm a 1,90 0,14 mm (R2 = 0,266), e de 6,95 0,06 mm a 23,07 4,02 mm (R2 = 0,692), respectivamente, enquanto a RVH média diminuiu de 61,20 1,60% para 42,84 2,91% (R2 = 0,706) no mesmo período. Conclusão A LA, V-C, e CAC aumentaram, enquanto a RVH diminuiu com o avanço da gestação.

Enfoque perinatal de la ventriculomegalia / Perinatal approach of ventriculomegaly

La Ventriculomegalia Fetal es relevante dado que tiene una alta prevalencia e importante asociación con otras anomalías en el Sistema Nervioso Central. El enfoque perinatal está íntimamente ligado al desarrollo de la Medicina Materno Fetal e implica una evaluación precoz de la anatomía del SNC fetal, utilizando como herramienta de apoyo la ultrasonografía, se debe tener un claro conocimiento de la anatomía cerebral fetal, de los criterios diagnósticos y protocolos estandarizados de manejo clínico actual. Considerar el uso de Resonancia Nuclear Magnética Fetal como técnica complementaria, y proporcionar Consejo Médico a los padres apoyado en Equipos Multidisciplinarios. La presente Revisión tiene el propósito de ser una puesta al día, que sea útil para los profesionales clínicos.

The Fetal ventriculomegaly is relevant since it has a high prevalence and association with other anomalies in the Central Nervous System. The perinatal approach is closely linked to the development of Maternal-Fetal Medicine and involves an early assessment of the anatomy of fetal CNS, using as a support tool ultrasonography, one must have a clear understanding of the fetal brain anatomy, diagnostic criteria and standardized protocols current clinical management. Consider using Nuclear Magnetic Resonance Fetal as a complementary technique, and provide parents Medical Council supported by multidisciplinary teams. This review is an update that is useful for clinicians.

Detección ecográfica y pronóstico de la ventriculomegalia fetal / Ultrasound detection and prognosis of fetal ventriculomegaly

Antecedentes: La ventriculomegalia fetal es un signo ecográfico muy sensible para las alteraciones del sistema nervioso central fetal. La morbilidad asociada a la misma depende principalmente de la etiología y de la presencia de otras malformaciones asociadas. Si es aislada y no progresiva se puede preveer un resultado posnatal favorable hasta en el 70 por ciento de los casos aunque hay una gran disparidad de cifras entre distintos centros y autores. Objetivo: Establecer la relación entre ventriculomegalia y pronóstico perinatal. Método: Se han revisado 60 casos diagnosticados mediante ecografía prenatal en el Hospital Universitario de Canarias siguiendo los criterios ecográficos de ventriculomegalia (astas posteriores mayores de 10 mm). Se realizaron cariotipos y serología materna y en líquido amniótico para completar el estudio. Resultados: Hubo un total de 23 interrupciones voluntarias de la gestación y 28 recién nacidos sin secuelas (47 por ciento). Un 70 por ciento de las ventriculomegalias aisladas correspondieron a recién nacidos sin secuelas. El 10 por ciento de las ventriculomegalias aparecieron en fetos con aneuploidías. Conclusión: El pronóstico fue favorable en los casos de ventriculomegalia no progresiva y aislada. La medida de la ventriculomegalia no predice el resultado. La variabilidad de resultados en la literatura obliga a cada centro a disponer de sus protocolos y datos para aconsejar a la pareja que ha de tomar una decisión sobre el futuro de su embarazo.

Background: Fetal ventriculomegaly is the most sensitive sonographic sign for central nervous system anomalies. Neonatal morbidity and mortality depends on the etiology of the ventriculomegaly and the presence of other malformations. Isolated non-progressive ventriculomegaly is associated with 70 percent favorable results, with a great disparity among studies. Aims: To establish the relationships between ventriculomegaly and perinatal outcome. Methods: The authors reviewed 60 cases of prenatally diagnosed fetal ventriculomegaly in the Canary Islands University Hospital. An ultrasonographic measurement of the lateral ventricles of 10 mm or more was considered as ventriculomegaly. Fetal and maternal serology was performed as well as fetal karyotyping. Results: 23 patients decided to terminate the pregnancy due to unfavorable prognosis. In 28 cases outcome was favorable. 70 percent of isolated ventriculomegaly corresponded to healthy newborns. 10 percent of the fetuses had aneuploidies. Conclusion: Prognosis is favorable if ventriculomegaly is isolated and non-progressive. Measurement of the lateral ventricle does not predict outcome. Disparity of results in literature makes it necessary for each Hospital to rely on their own data and guidelines to assess parents on the fate of the pregnancy.