Thoraco-Lumbar Hemangiolymphangioma diagnosed antenatally by ultrasonography / Philippine Journal of Obstetrics and Gynecology

@#This is a case of a fetus with a complex cystic structure on the mid-thorax to the lumbar area detected by ultrasonography at 23 weeks age of gestation. There were no other structural abnormalities noted. The fetal Doppler of the middle cerebral and umbilical arteries were normal. The increase in size of the cystic mass, diagnosed as lymphangioma, and the appearance of pleural effusion at 27 weeks age of gestation prompted further surveillance with magnetic resonance imaging. It showed an extensive subcutaneous mass involving the right thoraco- lumbar region, to consider hemangioma. Expectant management, bringing the pregnancy close to term as possible, was planned. However, the progression of the effusion to the bilateral hemithorax and presence of fetal ascites led to the cesarean delivery of a live preterm male with a birthweight of 1,885 grams (4 lbs 1 oz), maturity index of 29 weeks and an Apgar score of 4, 7, 8 at the first, fifth and tenth minute of life. There was a 15 x 13 cm hemangiolymphangioma on the right thoraco-lumbar area. An ultrasound-guided thoracentesis was done to help alleviate fetal distress. The infant was observed in the neonatal intensive care unit and was sent home stable. Presently, the hemangiolymphangioma is gradually resolving.

Descripción de la experiencia en RM cerebral fetal en Cali - Colombia / Experience description in fetal magnetic resonance in Cali - Colombia

Resumen: Objetivo: Describir la experiencia en la implementación de resonancia magnética fetal en alteraciones del sistema nervioso en un centro de alto nivel en Cali - Colombia. Materiales y métodos: Estudio descriptivo observacional retrospectivo. Se analizaron los casos de resonancia magnética fetal (RMF) entre septiembre del 2011 y abril del 2017. Se registró y analizó la información demográfica, clínica e imagenológica disponible en los informes radiológicos e historia clínica. Resultados: Se analizaron 36 estudios de RMF cerebral, la edad promedio de las pacientes fue 29.7 ± 5.2 años, la edad gestacional promedio fue 31.8 ± 3.5 semanas. El hallazgo más frecuente fue ventriculomegalia en 47.2% de casos (n= 17), patologías adquiridas n=6 (16.7%), alteraciones del tubo neural n=5 (13.9%), y anormalidades del cuerpo calloso n=3 (8.3%). Cuatro pacientes tuvieron estudio postnatal. Conclusión: La frecuencia de anomalías cerebrales encontradas en esta revisión es congruente con lo reportado en la literatura.

Abstract: Objective: To describe the experience with the use of fetal magnetic resonance in alterations of the nervous system, in a high level center in Cali - Colombia. Methods: A retrospective observational descriptive study was made. We analyzed all cases of fetal MRI between September 2011 and April 2017. Demographic, clinical and imagenological information were reviewed. Including age, gestational age, type of gestation, study indication and imagenological fidings. Results: 36 fetal brain MRI were analyzed. The average age of cases was 29.7 ± 5.2 years-old with an average of 31.8 ± 3.5 weeks of gestation. All cases were single gestation. The most frequent result was ventriculomegaly n=17(47.2%), acquired pathologies n=6 (16.7%), neural tube anormalities n=5(13.9%), and corpus callosum anomalies n=3(8.3%). Conclusions: The frequencies of fetal cerebral anomalies found in this study were congruent with literature.

Claves para identificar un trastorno de neurodesarrollo cortical en la neuroimagen / Keys to identify a cortical neurodevelopmental disorder in neuroimaging

Las malformaciones del desarrollo cortical son entidades relacionadas con la interrupción en el proceso de formación cortical secundarias a diferentes etimologías y se asocian con morbilidad neurológica significativa, incluyendo discapacidad intelectual, epilepsia severa y trastorno motor. El desarrollo de nuevas secuencias diagnósticas por resonancia magnética, y la implementación de su uso durante el periodo fetal permitió mejorar la identificación, caracterización y clasificación las malformaciones del desarrollo cortical. La resonancia magnética constituye uno de los pilares en el estudio de estos pacientes, sobre todo si se plantea como tratamiento de la epilepsia el quirúrgico.

Abstract Malformations of cortical development result from disruptions of the complex process of development of the cerebral cortex secondary to different etiologies. They are associated with significant neurological morbidity including sever epilepsy, developmental delay, and motor dysfunction. Currently, the development of new sequences of magnetic resonance imaging as well as their application during pregnancy have improved the identification, topography, and classification of these malformations. Magnetic resonance imaging is one of the cornerstones of the work-up of patients with epilepsy, especially when neurological treatment is contemplated.

Diagnóstico prenatal y manejo perinatal en enfermedades raras / Prenatal diagnosis and management of rare diseases

El diagnóstico y manejo prenatal de enfermedades raras involucra un estudio multidisciplinario. Desde una visión obstétrica, herramientas de imagenología como la ultrasonografía y en menor medida la resonancia magnética fetal (RMF) son esenciales para el diagnóstico de anomalías morfológicas y sospecha de defectos cromosómicos. Para el diagnóstico de enfermedades cromosómicas el estudio de cariograma obtenido de vellosidades coriales, líquido amniótico o sangre fetal mediante técnicas invasivas tal como biopsia corial, amniocentesis o cordocentesis ha sido hasta hace poco el gold standard del diagnóstico. Nuevas técnicas moleculares capaces de detectar microdeleciones como es el microarray nos ha permitido aproximarnos al origen de las enfermedades raras. Se revisarán además algunos de los defectos anatómicos raros y su enfoque neonatal.

Prenatal diagnosis and management of rare diseases is a multidisciplinary task. From the obstetric vision, prenatal diagnosis is based on fetal images obtained by ultrasound or magnetic resonance and fetal chromosomes study. The study of fetal morphology allows us the diagnosis of fetal abnormalities and the suspicion of chromosomal defects. Fetal chromosomal study is obtained either by chorionic villus sampling, amniocentesis and cordocentesis, all associated to fetal risk. New screening techniques such as fetal DNA on maternal blood or the study of fetal micro deletions using micro Array on amniotic fluid has extended diagnostic opportunity of rare fetal diseases. We will review some of the most common rare diseases and the neonatal approach.

Avaliação de linfangiomas cervicais fetais por ressonância magnética e correlação com achados ultrassonográficos / Evaluation of fetal cervical lymphangioma by magnetic resonance imaging and correlation with sonographic findings

OBJETIVO: Avaliar três casos de linfangioma cervical por ressonância magnética e correlacionar com os achados da ultrassonografia. MATERIAIS E MÉTODOS: Três pacientes com idade gestacional entre 24 e 35 semanas, com suspeita de higromas císticos cervicais fetais na ultrassonografia obstétrica de rotina, foram submetidas a ressonância magnética e, posteriormente, a nova ultrassonografia para correlação dos achados. Em ambos os métodos de imagem foram avaliadas as dimensões, a localização, o conteúdo e a extensão das lesões. RESULTADOS: Tanto a ultrassonografia quanto a ressonância magnética avaliaram de modo semelhante a localização, o tamanho e o conteúdo dos tumores. As três lesões localizavam-se na região cervical posterior e lateral. Quanto ao conteúdo, duas eram predominantemente císticas com finos septos em seu interior e uma era heterogênea. A extensão e invasão das estruturas adjacentes foram mais bem caracterizadas na ressonância magnética do que na ultrassonografia, demonstrando de forma adequada o acometimento do pavilhão auditivo do feto em um caso e do mediastino superior em outro. CONCLUSÃO: A ressonância magnética fetal pode ser um complemento útil da ultrassonografia em fetos portadores de linfangiomas, avaliando de forma mais precisa a extensão e invasão de estruturas vizinhas, permitindo melhor planejamento cirúrgico pós-natal.

OBJECTIVE: To evaluate three cases of cervical lymphangioma with magnetic resonance imaging and correlating with sonographic findings. MATERIALS AND METHODS: Three pregnant women between the 24th and 35th gestational weeks, with sonographic findings suggestive of fetal cystic hygroma, were submitted to magnetic resonance and subsequently to a new ultrasonography for correlation of imaging findings. Tumors size, location, content and extent were evaluated both at magnetic resonance imaging and ultrasonography. RESULTS: Findings regarding tumor location, size and content were similar for both methods. All the lesions were found in the posterior and lateral cervical space. As regards the tumors content, two of the lesions were predominantly cystic, with thin septations, and the other was heterogeneous. Lesions extent and adjacent structures invasion were better characterized by magnetic resonance imaging, with appropriate demonstration of invasion of the pinna in one case and invasion of the superior mediastinum in another. CONCLUSION: Fetal magnetic resonance imaging can be a useful adjuvant to obstetric ultrasonography in cases of lymphangioma because of its higher accuracy in the determination of these tumors extent and adjacent structures invasion, allowing a better postnatal surgical planning.

Avaliação crítica dos benefícios e limitações da ressonância magnética como método complementar no diagnóstico das malformações fetais / A critical review of benefits and limitations of magnetic resonance imaging as a complementary method in the diagnosis of fetal malformations

OBJETIVO: Avaliar, por meio da ressonância magnética, uma série de fetos com diagnóstico ultra-sonográfico de malformação, a fim de estabelecer os benefícios e limites diagnósticos proporcionados pela técnica de ressonância magnética fetal, em comparação com a ultra-sonografia. MATERIAIS E MÉTODOS: Foram estudadas 40 mulheres entre 15-35 semanas de gestação com diagnóstico de anomalia fetal durante o exame de ultra-sonografia. As pacientes foram encaminhadas para o estudo complementar com ressonância magnética. As indicações para o estudo da ressonância magnética fetal foram: anomalias do sistema nervoso central, do tórax, do abdome, renais, esqueléticas e tumores. A avaliação pós-natal incluiu a revisão das imagens de ultra-sonografia e ressonância magnética, o acompanhamento do nascimento, exames laboratoriais, radiológicos e necropsia. RESULTADOS: Os resultados mostraram que os estudos complementares com ressonância magnética fetal trouxeram informações adicionais em 60 por cento dos casos estudados. Os benefícios da ressonância magnética fetal foram: ampliação da avaliação global, aumento do campo de avaliação, maior resolução tecidual pelo uso de seqüências, e avaliação em pacientes obesas e com oligoidrâmnio. Os limites da ressonância magnética fetal foram: evitar exame no primeiro trimestre, avaliação do fluxo sanguíneo, movimentação fetal, claustrofobia materna, estudo do coração fetal e esqueleto. CONCLUSÃO: A ressonância magnética fetal pode ser utilizada como método complementar para a avaliação das malformações fetais.

OBJECTIVE: The present study was aimed at evaluating by means of magnetic resonance imaging a series of fetuses with sonographic diagnosis of malformation, establishing the diagnostic benefits and limitations of fetal magnetic resonance imaging as compared with ultrasonography. MATERIALS AND METHODS: Forty women between 15-35 gestational weeks and previously diagnosed with fetal abnormality by ultrasonography were referred to undergo complementary fetal magnetic resonance imaging, particularly for evaluating abnormalities in the fetal central nervous system, thorax, abdomen, renal system, skeletal system, and tumors. The whole evaluation process included a review of the fetal ultrasonography and magnetic resonance images, postnatal follow-up, laboratory tests, imaging studies and necropsy. RESULTS: The present study has demonstrated that complementary magnetic resonance imaging did provide further information in 60 percent of cases, with the following benefits: improved information on the fetus as a whole, with a large field of view, higher anatomic resolution provided by fast sequences, superior soft tissue contrast resolution, besides the fact that the visualization of the fetus is not significantly affected by maternal obesity or oligohydramnios. Limitations of the method include contraindication in the first gestational trimester and in cases of maternal claustrophobia, sensitivity to fetal motion, low sensitivity for detecting cardiovascular and skeletal malformations. CONCLUSION: Fetal magnetic resonance imaging plays a significant role as a complementary method for the diagnosis of fetal anomalies.