An unnoticed variant of Sirenomelia with constellation of multiple anomalies

Sirenomelia is a rare fatal congenital anomaly, characterized by a single midline lower limb, urogenital anomalies, Potter's facies and a single umbilical artery. Approximately 400 cases have been reported in the literature. Based on the number of feet and the degree of lower limb bone fusion, it is classified into seven different types. Sirenomelia has been reported with associated anomalies involving multiple systems mainly of urogenital, respiratory as well as the alimentary tract system. In the present case, the authors reported an unnoticed variation in the fusion of lower limbs and its rare association with tracheoesophageal fistula

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Recomendaciones de buenas prácticas para el diagnóstico genético de abortos espontáneos e interrupciones voluntarias del embarazo por presentar defectos congénitos / Good practice recommendations in the molecular diagnosis of miscarriage and abortion due to multiple congenital malformations

Objetivos: La aparición de defectos congénitos produce una gran ansiedad en la familia y una enorme demanda asistencial. El objetivo principal radica en la redacción de las recomendaciones de buenas prácticas que sirvan de guía a los profesionales sanitarios para el diagnóstico clínico-genético de defectos congénitos. Metodología: El protocolo que proponemos contempla un modelo de actuación óptimo que incluye, la recogida de la información clínica inicial, la obtención de las muestras biológicas y los protocolos de actuación. Resultado: Se ha elaborado un modelo de historia clínica que ayude a la recogida de la información clínica pertinente. En la obtención de las muestras biológicas se aconseja la obtención de muestras fetales (de las 3 capas embrionarias) y muestras de los progenitores que serán procesarán teniendo en cuenta el algoritmo de actuación propuesto para el correcto diagnóstico genético del defecto congénito correspondiente. Conclusión: Esta guía recoge por primera vez, las recomendaciones de buenas prácticas para el diagnóstico genético de abortos con defectos congénitos

Aims: Congenital anomalies can cause anxiety within a family and high healthcare demand. The aim of this study was to write good practice recommendations to guide health professionals in the clinical-genetic diagnosis of congenital defects. Methods: The proposed protocol focuses on an optimal case scenario that includes collection of initial clinical data, biological sampling, and diagnostic algorithms. Results: A model of the optimal clinical history form was created to facilitate the collection of initial clinical data. For sampling, it is recommended to obtain at least one fetal sample (of the three embryonic germ layers). Moreover, samples from both parents should be taken to exclude mosaicism, following the diagnostic algorithm proposed for the correct genetic diagnosis of the corresponding congenital defect. Conclusion: This document is the first to gather good practice recommendations for the pre- and post-natal genetic diagnosis of miscarriages and abortions due to congenital defects

Fetal intraluminal portion of the sphincter of Oddi: a histological study using human fetuses

The sphincter of Oddi surrounds a common duct after joining of the bile and pancreatic ducts in the adult ampulla of Vater, but the fetal development of the submucosal portion of the sphincter is still obscure possibly because previous studies used horizontal or frontal sections. We examined serial sagittal histological sections of 12 human fetuses with 36-65 mm crown rump length or CRL (approximately 9-11 weeks) and semi-serial sections of the other 3 fetuses with 210-250 mm (25-30 weeks). Except for 1 fetus (36 mm CRL), fourteen fetuses carried the "intraluminal portion" protruding and floating in the duodenal lumen. Twelve of them had the sphincter extending to the anal side in the duodenal lumen, whereas two extended to the stomach side. The distal end of the sphincter seemed to detach from the duodenal mucosa at and around 9 weeks, and subsequently the common duct seemed to elongate freely without mucosal attachment in mid-term fetuses and, finally, become embedded again in the duodenal mucosa in the postnatal life. A possible discrepancy in growth rate between the sphincter muscle and duodenal mucosa was likely to allow the specific intermediate morphology, i.e., the intraluminal common duct. The fetal accessory papilla did not show such morphology. A minority of cases whose common duct extended to the stomach side might connect with abnormal union of the bile and pancreatic ducts

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