Aneuploidy

This study compares a new microfluidic device, SwimCount Harvester, to standard sperm preparation methods in couples undergoing IVF with genetic testing (PGT-A). About 1,600 couples will be randomly assigned to one of the two methods. The goal is to see if the device leads to mor…

This study tests a program called FACE-Rare, designed to support family caregivers of children with rare, life-limiting diseases. The program includes three sessions to help families prepare for future medical decisions and improve their quality of life. Researchers will compare …

This study observes heart function in 216 newborns born at 35 weeks or later. Researchers will use ultrasound to measure how the heart relaxes and fills with blood, creating normal reference values. They will also check if factors like mother's health or birth conditions affect h…

This study watches embryos grow using time-lapse cameras and compares their development to genetic test results. Researchers hope to find visual clues that indicate a healthy embryo. 2000 IVF patients are taking part. If a link is found, it could lead to a less invasive way to ch…

This study follows 300 fetuses and children with sex chromosome disorders to track their growth, organ development, and overall health. Researchers will also look at genetic and gut microbiome factors. The goal is to better understand how these conditions affect children over tim…

This study looks at fetuses with sex chromosome disorders (like extra or missing X or Y chromosomes) that were either miscarried or electively aborted. Researchers will analyze the placenta and fetal tissues to see how the chromosome changes affect gene activity and development. …

This pilot study tests whether a short video about prenatal genetics helps pregnant patients feel less conflicted when deciding about genetic testing. About 140 participants will either watch the video or receive standard care, then complete surveys. The goal is to see if the vid…

This study will follow 300 men with Klinefelter syndrome (an extra X chromosome) who are treated at a Danish hospital. Researchers will collect medical records, scans, and blood samples to map how the condition affects growth, hormones, fertility, heart health, and mental well-be…

This study will analyze DNA from 10,000 people with suspected rare genetic disorders affecting the brain. Researchers will map structural changes in chromosomes to find which genes cause disease. The goal is to improve genetic diagnosis and lay groundwork for future treatments.