Trisomy 13 (Patau 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.

Myelodysplastic syndromes (MDS) are chronic blood disorders marked by ineffective blood cell production and normal marrow richness. This research aims to understand the biological and clinical aspects of MDS, including its progression to acute leukemia, which occurs in 30 to 40% of cases. The study focuses on the genetic and molecular diversity of MDS and seeks to identify markers predicting disease progression through a biocollection. The study involves collecting and analyzing biological material from patients diagnosed or suspected of having MDS. It explores three key scientific projects: splicing abnormalities related to SF3B1 mutations, the role of chromosomal deletions such as 5q affecting splicing genes RBM22 and SLU7, and the progression of MDS to acute myeloid leukemia by studying the clonal architecture of malignant cells. These projects use advanced genetic and molecular analysis techniques to deepen understanding of MDS mechanisms. Participants provide biological samples and clinical data, which are used for detailed genetic and functional studies. The study monitors patients over time to observe disease evolution and identify prognostic markers. The primary outcome is an epidemiologic study of the MDS patient cohort over five years. Participation includes consenting to data and sample collection, enabling researchers to analyze molecular changes and better understand MDS progression and prognosis.

Researchers are evaluating whether testing embryos for chromosomal abnormalities, called aneuploidy, can help select embryos more likely to result in a healthy live birth. This study focuses on embryos from assisted reproductive technology (ART) that are already undergoing genetic testing for monogenic disorders (PGT-M). The goal is to see if preimplantation genetic testing for aneuploidy (PGT-A) can reduce miscarriages and improve the chance of healthy births by avoiding embryos unlikely to succeed. This observational study does not introduce new treatments but collects data on aneuploidy from embryo biopsies and the spent culture media, the fluid in which embryos grow. Both sources of DNA will be analyzed to predict whether embryos will lead to live births. The study will compare these predictions to actual clinical outcomes, assessing the positive predictive value (how often embryos predicted to succeed do so) and the negative predictive value (how often embryos predicted to fail do not result in live birth). Participants will undergo standard care with PGT-M biopsies, and additional samples may be collected before and after birth for further validation, including chorionic villus sampling, amniocentesis, fetal cells from maternal blood, and newborn DNA, though these are optional. Live birth data will be collected up to 10 months after embryo transfer. About 220 patients and 540 embryo transfers will be involved, with recruitment expected to take two years. The study aims to provide evidence on whether PGT-A should be used in clinical practice.

This research investigates two sperm preparation methods used during in vitro fertilization (IVF) for infertile women undergoing preimplantation genetic testing (PGT). The study aims to compare the microfluidic chip method and density gradient centrifugation to evaluate their effects on the euploidy rate of embryos and other IVF outcomes such as pregnancy rates and obstetric complications. Eligible couples will be recruited during ovarian stimulation for IVF, and randomization will take place on the day of oocyte retrieval in a double-blind manner. Participants will be assigned to either the microfluidic chip group, where sperm will be prepared using a specialized device following the manufacturer's instructions, or the density gradient centrifugation group, where sperm will be separated using a gradient centrifugation method and washed before fertilization. Women will undergo ovarian stimulation using injections and monitoring, followed by oocyte retrieval. Fertilization is performed via intracytoplasmic sperm injection using the prepared sperm samples. Embryos will be tested genetically, and only chromosomally normal blastocysts will be used for frozen embryo transfer in subsequent cycles. During the study, semen samples will be collected and evaluated for quality and DNA damage. Pregnancy outcomes will be tracked through urine tests and ultrasounds, with detailed data collected on pregnancy progress, delivery, birth weights, and any complications. The primary outcome measured is the euploid rate of blastocysts within three months, and secondary outcomes include live birth rates and pregnancy outcomes over three years. Participants will be closely monitored throughout the IVF process and follow-up periods.

Researchers are evaluating a phase II, open-label study of T cell receptor alpha/beta depletion (TCR α/β TCD) peripheral blood stem cell transplantation for children and adults with blood cancers, including acute leukemias and myelodysplasia. This study focuses on the safety and feasibility of this investigational transplantation approach in patients up to 60 years old. Participants receive treatment based on the most medically appropriate regimen, with a preference for regimens including Fludarabine, Total Body Irradiation, Busulfan, Melphalan, Antithymocyte Globulin, and Cyclophosphamide. On Day 0, patients receive an infusion of alpha/beta T cell-depleted hematopoietic stem cells. Several conditioning regimens are used depending on patient characteristics, including specialized approaches for pediatric patients and those with juvenile myelomonocytic leukemia or infant leukemia. During the study, participants are monitored for outcomes such as graft-versus-host disease within 100 days, transplant engraftment by 42 days, graft failure by 100 days, and overall survival over 12 months. Safety and organ function are assessed, and patients receive medications including Rituximab and Levetiracetam to reduce risks. The trial is sponsored by the Masonic Cancer Center at the University of Minnesota and continues until November 2030.

This research aims to gather information about the outcomes of non-euploid embryo transfers (NEET) in patients undergoing in vitro fertilization (IVF) within The Prelude Network. It focuses on embryos with chromosomal abnormalities such as mosaicism, isolated segmental aneuploidy, or whole chromosome aneuploidy, which are sometimes transferred for specific patient reasons. The study seeks to better understand prenatal, neonatal, and pediatric results for these types of embryo transfers to help inform future decisions. The study is observational, tracking patients who plan to transfer non-euploid embryos. Data collection includes prenatal through pediatric stages to observe the effects of these transfers over time. There are no interventions or treatment groups since it records outcomes of standard clinical decisions about embryo transfer. Participants will be monitored through follow-up assessments that capture implantation rates over five years, along with other health outcomes in early life. Researchers will collect detailed information from fertility clinics to evaluate the success and safety of non-euploid embryo transfers. The study's duration and data collection allow for long-term understanding of these transfers' effects.

Researchers are evaluating an inclusive physical activity program called PACE for adults with intellectual disability (ID) who do not show signs of Alzheimer's Disease or related dementias. This randomized controlled trial includes 120 adults with ID, their caregivers, and coaches, aiming to study the effects of physical activity on health and wellbeing in this population. The study is sponsored by the University of North Carolina, Chapel Hill. The study involves a 16-week intervention with weekly group fitness classes led by certified Inclusive Fitness Specialists. Participants in the intervention group will also use a web-based dashboard, attend weekly coaching meetings, and have access to web-based training for coaches and exercise professionals. Those in the waitlist control group will receive the PACE program after the initial 16-week period. The program is designed to encourage moderate-to-vigorous physical activity and community empowerment. Participants undergo screening and baseline assessments including cognitive testing, dementia screening, and physical activity monitoring with an Actigraph device worn for a week. Assessments include body composition scans, quality of life questionnaires, daily living skills, mental and cognitive functioning, emotional health, and physical fitness tests. Follow-up visits occur post-intervention and at 12 months to evaluate changes. The primary outcomes are steps per day and minutes of moderate-to-vigorous activity measured by the Actigraph at baseline and after 16 weeks.

This research aims to understand how often embryos reported as abnormal through preimplantation genetic testing lead to live births. It also evaluates whether pregnancies from these embryos face higher risks of complications and if the children have increased risks for health or developmental issues during their first five years. The study focuses on patients undergoing embryo transfers, comparing outcomes between those receiving non-euploid (aneuploid or mosaic) embryos and those receiving euploid embryos. Participants are grouped based on the type of embryo transferred. One group includes patients who choose to transfer non-euploid embryos when no acceptable euploid embryos are available, and the other group includes those undergoing euploid embryo transfer following standard care protocols. All other medical interventions follow usual care practices. The study gathers genetic testing results and records pregnancy outcomes over several years. Participants provide medical records related to their pregnancy, and any genetic or fetal testing data are carefully reviewed. For those with live births, pediatric records and developmental milestone surveys are collected for up to five years to assess child health and development. The primary outcome is pregnancy rate within three years, with additional outcomes including live birth rate, obstetric complications, and pediatric development tracked over extended timeframes. There is no financial compensation for participation.

Researchers are collecting blood specimens from pregnant women who are at increased risk for fetal chromosomal abnormalities, such as Down Syndrome, to help develop a noninvasive prenatal test. This test aims to analyze circulating cell-free fetal DNA from the mother's blood to detect fetal chromosomal aneuploidy. The study compares the new test results with those obtained from standard invasive procedures like chorionic villus sampling (CVS) or genetic amniocentesis. Participants will provide blood samples during their pregnancy between 10 and 22 weeks of gestation. These samples will be analyzed to measure the relative quantity of chromosomal material in fetal DNA circulating in the mother's plasma. Alongside, participants will undergo CVS and/or amniocentesis to collect genetic material for comparison. This observational study does not involve any experimental treatments. During the study, women will give informed consent and provide genetic results from the invasive diagnostic procedures. Researchers will collect and compare blood specimens and genetic testing data. The study involves no intervention beyond these collections and lasts through the period needed to gather and analyze specimens. Participants' health and pregnancy outcomes will be monitored as part of standard care.