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Multiple Anomalies clinical trials

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NCT ID: NCT04709965 Completed - Clinical trials for Inborn Errors of Metabolism

Evaluating Face-Recognition Technology in Syndrome Diagnosis

Start date: January 30, 2018
Phase: N/A
Study type: Interventional

Birth defects are relatively common, occurring in 1 in 40 live born babies. They can be single, or multiple. They may occur as part of multiple malformation syndromes, often in association with growth disturbance or intellectual disability. Over 7000 rare syndromes have been identified. Thus, though they are rare they are collectively important. Understanding how a multiple malformation syndrome came about, defining what investigations and health surveillance is needed for affected children and identifying whether there is a treatment is very important for parents and professionals caring for affected children and also for genetic counselling of their extended families, since the majority will have a genetic basis. Diagnosis of these rare disorders is therefore important,but as many syndromes are rare this can be extremely difficult and requires specialist knowledge, many investigations and many hospital appointments. This study aims to determine whether using face-recognition software can improve diagnosis of rare syndromes when used in addition to current routine practice.

NCT ID: NCT03482141 Completed - Skeletal Anomalies Clinical Trials

Clinical Utility of Prenatal Whole Exome Sequencing

PWES
Start date: August 1, 2017
Phase: N/A
Study type: Interventional

The investigator aims to examine the clinical utility of WES, including assessment of a variety of health-related and reproductive outcomes in undiagnosed prenatal cases.