CHARGE Syndrome

This research aims to develop and validate an artificial intelligence (AI) software to recognize fetal brain structures and distinguish between normal and abnormal brain anatomy during the second trimester ultrasound scan. The study focuses on fetal brain abnormalities, which are challenging to diagnose prenatally. AI technology may improve detection, reduce variability between operators, shorten examination time, and optimize healthcare resources. The study is conducted by multiple fetal medicine centers and targets pregnant women undergoing routine screening for fetal anomalies. The study consists of two phases: a retrospective phase and a prospective phase. In the first phase, researchers collect and analyze ultrasound images taken between 19 and 22 weeks of gestation from various centers to develop and train the AI algorithm with both normal and abnormal fetal brain images. The second phase prospectively tests the AI algorithm in real clinical settings on patients from the participating centers to validate its performance in assessing fetal brain anatomy. Participants are singleton pregnant women between 19 and 22 weeks of pregnancy who undergo ultrasound scans. Researchers will collect clinical, ultrasound, prenatal, and postnatal data, anonymize images, and store them securely for analysis. The primary outcome is validating the AI algorithm over two years. Secondary outcomes include improving reproducibility and reducing examination time within one year. The study involves continuous monitoring and assessment of ultrasound images to support routine fetal brain screening.

This research gathers data and biological samples from pregnant women to study prematurity, preeclampsia, and other pregnancy complications. It combines information from four original studies involving women at different stages of pregnancy, including those with low risk and those diagnosed with preeclampsia. The goal is to better understand early onset preeclampsia and related conditions using medical, social, obstetrical, and ultrasound data along with biological markers and genetics. Participants in the biobank provide blood and urine samples along with detailed clinical and demographic information. The studies include women pregnant with singletons or twins at various early gestational ages, some randomized to receive low-dose aspirin or placebo. Ultrasound examinations and blood pressure measurements are also part of the data collection, with access to medical records for pregnancy outcomes and newborn health. Women in the biobank undergo assessments including blood sample collection, urine testing, blood pressure monitoring, and ultrasound scans. Researchers use this information to measure outcomes such as early onset preeclampsia diagnosed between 20 and 34 weeks, severe preeclampsia, fetal growth restriction, spontaneous preterm birth, and fetal anomalies. The study started in 2015 and plans to continue until 2028, offering long-term follow-up of pregnancy complications and their outcomes.

This research aims to improve surgical results for children and young adults aged 5 to 20 years who have severe ear differences caused by congenital conditions like microtia, injuries such as dog bites, or ear tissue removed due to skin cancer. The study focuses on enhancing ear reconstruction techniques by using a new medical device designed to shape cartilage into precise forms, which helps surgeons create a more accurate ear framework, shortens surgery time, and reduces the need for wires. The study also examines other factors that could influence surgical outcomes. The trial compares two methods of ear reconstruction surgery. One group will have surgery using the AuryzoN™ EAR 2.0 device, which standardizes cartilage shaping with specialized blades to reduce operator skill dependence, minimize wire usage, and shorten procedure times. The other group will have surgery using the traditional hand-carved technique, where surgeons manually shape rib cartilage and assemble ear parts with steel wires. The study evaluates differences in appearance, stability, production time, operative time, morbidity, and cartilage resorption over the first year after surgery. Participants will undergo surgery and then be followed for up to five years. Researchers will assess patient and parent satisfaction with the ear's shape and look at reductions in surgery and assembly times, wire use, cartilage stability, and resorption rates. Additional tests include tissue analysis of banked cartilage between surgery stages and measuring changes in cartilage size. These evaluations aim to understand the benefits and challenges of the new device compared to traditional methods.

Researchers are studying adults with rare and complex genetic syndromes that affect multiple body systems and often include intellectual disability. These patients typically receive specialized care from multiple specialists during childhood, but as medical advances have extended life expectancy, many are now living into adulthood. The study aims to understand the medical needs, comorbidities, medication use, and quality of life impacts for adults with these rare syndromes, addressing a gap in adult care and guidelines. This research involves a retrospective review of medical files, including medical history, laboratory results, additional tests, and records of physical and psychological complaints. There is no active treatment or intervention, as the study collects and analyzes existing data to gain insights about health issues and medication adaptations needed for these syndromes. Participants' medical records will be analyzed to evaluate the presence of physical health problems, laboratory values, physical and psychological complaints, and medication use over a one-year period. The study uses statistical software for analysis and aims to improve understanding of adult care needs for these rare genetic conditions. The study began in October 2018 and will continue through January 2030.