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.

Three Cases of Spina Bifida by Antenatal Ultrasonogram / 대한산부인과학회잡지

The prenatal diagnosis of spina bifida includes the combined use of maternal serum alpha-fetoprotein (MSAFP) screening and fetal sonography. On ultrasonogram, spina bifida is characterizd by visualization of the spinal defect and associated cranial abnomalities: the Lemon sign, the Banana sign, ventriculomegaly, small biparietal diameter, and obliteration of the cisterna magna. We should now be able to rely on ultrasound as the main technique for diagnosis of spina bifida when MSAFP is elevated. Recently, we have experienced three cases of spina bifida diagnosed with meningomyelocele, lemon sign, banana sign and ventriculomegaly on ultrasonogram at respectively 18+3, 18, and 18+6 weeks of gestation. We present these cases with a brief review of literatures.

Three cases of spina bifida, which was Antenatally Diagnosed by Ultrasonograghy / 대한산부인과학회잡지

"The prenatal diagnosis of spine bifida include the combined use of maternal serum alpha-fetoprotein (MSAFP) screening and fetal sonography. Sonographically, spina bifida is characterized by direct signs of the visualization of the spinal defect, and indirect signs of the cranial markers : the lemon sign, the banana sign, and ventriculomegaly. These ultrasonographic signs are more accurate in defining the cranial malformations associated with spina bifida than evaluation of the spine. Recently, three cases of spina bifida which was diagnosed as ""splaying"" of the posterior ossification centers, meningomyelocele sac at the lumbosacral area, lemon sign, banana sign and ventriculomegaly by ultrasonography at 21+2 gestational weeks in a 32 years old nullipara, at 21+2 gestational weeks in a 26 years old nullipara, at 23+6 gestational weeks in a 26 years old multipara were experienced at our department. We present this cases with a brief review of literatures"