RESUMEN
Histological artifacts in fetal eyes can involve different tissues and can be related to mechanical or autolytic lesions, fixation, the cause of death or the cutting technique. Knowing the causes, effects and appearance of artifacts allow the minimization of the risk of avoidable artifacts and help distinguish them from "true" pathological lesions. We describe these different types of artifacts and specifically analyze their involvement in different tissue structures of the eye. We compare them with primary fetal ocular lesions. Given the wide variety of artifacts, the identification of lesions in fetal eyes must be done with caution, since differentiating true lesions from artifacts requires some experience and relies on both macroscopic examination and microscopic analyses, with ideally comparisons with references' images of normal tissues of the same gestational age.
Asunto(s)
Artefactos , Ojo , Humanos , Ojo/patología , FetoAsunto(s)
Síndrome de Cornelia de Lange/diagnóstico por imagen , Pestañas/diagnóstico por imagen , Enfermedades Fetales/diagnóstico por imagen , Diagnóstico Prenatal/métodos , Ultrasonografía Prenatal/métodos , Proteínas de Ciclo Celular , Síndrome de Cornelia de Lange/complicaciones , Síndrome de Cornelia de Lange/genética , Femenino , Enfermedades Fetales/genética , Hernia Diafragmática/complicaciones , Hernia Diafragmática/diagnóstico por imagen , Hernias Diafragmáticas Congénitas , Humanos , Embarazo , Segundo Trimestre del Embarazo , Proteínas/genéticaRESUMEN
We report on the first prenatally diagnosed interstitial 8p23.1 maternally inherited deletion. At 20 weeks of gestation (WG) the fetus was diagnosed with a complete atrioventricular canal. In infancy, the mother underwent a two-step cardiac surgery for an interrupted aortic arch type A associated to an inlet ventricular septal defect (VSD). A straddling of the tricuspid valve type B was confirmed during surgery. The outcome showed no cardiac failure or conduction anomalies. However, she presented with moderate intellectual disability. Classical and molecular cytogenetic studies on amniotic and maternal lymphocytes cells showed a nearly identical interstitial deletion of the 8p23.1 region encompassing the GATA4 gene locus (Mother: nt 6,913,337-12,580,828, fetus: nt 7,074,449-12,580,828) with no modification of the telomeric region. The relevance of our report is not only the maternal syndromic interstitial 8p23.1 deletion, but also maternal transmission which has never been reported before. The maternal and fetal phenotypes were not identical, however, even though they had the same cellular and molecular background: an alteration of the epithelial mesenchymal transition of the atrioventricular valvulo-septal complex where GATA4 plays a positive role in the regulation. We reviewed all cases of interstitial 8p23.1 deletions diagnosed either prenatally or postnatally.
Asunto(s)
Defectos del Tabique Interventricular/genética , Diagnóstico Prenatal , Procedimientos Quirúrgicos Cardíacos , Deleción Cromosómica , Cromosomas Humanos Par 8/genética , Femenino , Estudios de Seguimiento , Factor de Transcripción GATA4/genética , Eliminación de Gen , Estudio de Asociación del Genoma Completo , Defectos del Tabique Interventricular/diagnóstico , Defectos del Tabique Interventricular/cirugía , Humanos , Hibridación Fluorescente in Situ , Cariotipo , Análisis por Micromatrices , Fenotipo , Polimorfismo de Nucleótido Simple , Embarazo , Válvula Tricúspide/anomalías , Válvula Tricúspide/cirugía , Adulto JovenRESUMEN
BACKGROUND AND PURPOSE: The sensitivity of fetal MR imaging is poor with regard to the evaluation of diffuse ischemic white matter (WM) abnormalities. Our purpose was to evaluate the contribution of diffusion-weighted imaging (DWI) in the analysis of microstructural changes in WM and to correlate neuroimaging with neurofetopathologic findings. MATERIALS AND METHODS: We included fetuses with MR imaging, DWI, and a fetopathologic examination. In a region of interest defined by MR imaging, where T1 and T2 intensities were abnormal, the apparent diffusion coefficient (ADC) was measured and immunohistochemical analysis was performed. In fetuses with no WM abnormality in signal intensity, region of interest was defined at random. Histologic reading was performed with a complete blinding of the MR imaging results and ADC values. Three degrees of histologic appearance were defined with regard to vasogenic edema, astrogliosis, microgliosis, neuronal and oligodendrocytic abnormalities, and proliferation or congestion of vessels and were compared with a chi(2) test in groups A (normal ADC) and B (increased ADC) fetuses. RESULTS: We included 12 fetuses in group A and 9 in group B, ranging from 29 to 38 weeks of gestation. All group B fetuses and 1 group A fetus demonstrated WM abnormalities in signal intensity. WM edema and astrogliosis were more common in group B than in group A (7/9 vs 2/12 and 8/9 vs 4/12, respectively). No significant difference was observed between both groups with regard to the other parameters. CONCLUSION: This study showed a strong correlation between increased ADCs and 1) WM abnormalities in signal intensity on MR imaging, and 2) vasogenic edema with astrogliosis of the cerebral parenchyma.