Active clinical trials for "Congenital Abnormalities"

The fetal CNS screening examination during the mid-trimester scan in low-risk pregnancies should include evaluation of the fetal head and spine, using transabdominal sonography. Evaluation of two axial planes allows visualization of the relevant cerebral structures to assess the anatomic integrity of the fetal brain.These planes are commonly referred to as the transventricular and transcerebellar planes. A third plane, the so-called transthalamic plane, is frequently added, mostly for the purpose of biometry. Structures that should be noted in the routine examination include the lateral ventricles, the cerebellum, the cisterna magna, and the cavum septi pellucidi (CSP). Head shape and brain texture should also be noted on these views.

This study will compare the accuracy of a real-time Cine sequence in assessing cardiac volumetry.

The focus of this research is to create a repository of ultrasonographic images and their corresponding medical data from pregnant women (the mothers of the fetuses that are imaged), focusing on fetal anomalies. These women will visit the obstetrical clinics at Regional One Health and the Le Bonheur Fetal Center.

Cerebral cavernous malformations (CCMs) are clusters of abnormal blood vessels in the brain and spine. CCMs can bleed and cause strokes, seizures, and headaches. CCMs are often caused by an inherited gene mutation (alteration) in one of three CCM genes (CCM1, CCM2, or CCM3). There is a wide range of disease severity even among family members with this disease, though the natural history has not been clearly described for this particular population. This study will continue to enroll and follow participants with familial CCM to identify factors that influence CCM disease severity and progression, focusing on barriers to clinical trial preparedness. Our long-term goal is to identify measurable outcomes and robust biomarkers that will help select high-risk patients and help monitor drug response in future clinical trials. The specific goals of this study are to: Identify factors that influence lesion progression to symptomatic hemorrhage and other outcomes, including quality of life; Investigate the role of the gut microbiome and lesion burden in CCM disease, and Identify blood biomarkers predictive of CCM disease severity and progression for clinical trials.

The purpose of the study is to find out the impact of Haglund syndrome on ankle plantarflexion and dorsiflexion ROM, dynamic postural stability and fall risk.

Ebstein anomaly and tricuspid valve dysplasia (EA/TVD) are rare congenital tricuspid valve malformations that carry among the highest mortality of all congenital heart disease diagnosed in utero. Despite the high mortality associated with severe EA/TVD in the fetus, it has only been studied retrospectively. By prospectively enrolling a cohort across multiple centers, many questions may be answered in the perinatal period and beyond. The registry will allow us to understand perinatal and postnatal decision-making in this complex group of patients across centers.

The Mayo Clinic Conduit Report Card Questionnaires have been created in order to have a consistent evaluation tools for patients undergoing esophageal reconstruction or treatment or patients that are experiencing an upper digestive disease in order to standardize and validate outcome measures. Data will be used to establish the validation of the questionnaires/survey. Data will also lead to the establishment of "normal" or expected scores for patients undergoing each type of esophagectomy procedure and for upper digestive diseases. Data will contribute to creating treatment algorithms for symptom management for upper digestive diseases and for post-operative complications and symptoms as well as contribute to pre-operative education.

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access. Visit sanfordresearch.org/CoRDS to enroll.

The investigators propose a preliminary study performing exome sequencing on samples from patients and their biologically related family members with tracheal and esophageal birth defects (TED). The purpose of this study is to determine if patients diagnosed with TED and similar disorders carry distinct mutations that lead to predisposition. The investigators will use advanced, non-invasive magnetic resonance imaging (MRI) techniques to assess tracheal esophageal, lung, and cardiac morphology and function in Neonatal Intensive Care Unit (NICU) patients. MRI techniques is done exclusively if patient is clinically treated at primary study location and if patient has not yet had their initial esophageal repair.

An extension of the MINVI trial, the MINVI Follow-Up trial will evaluate the neurodevelopmental outcomes at 22-26 months corrected age of term/near term infants who received UCM or ECC.