View clinical trials related to Chromosome Abnormality.
Filter by:This study aims to validate a non-invasive method of chromosomal screening (NICS), based on the Multiple Annealing and Looping Based Amplification Cycles- Next-generation Sequencing (MALBAC-NGS) technology, in order to determine the chromosomal endowment of a blastocyst from the DNA of the embryonic culture medium. The chromosomal status of the embryo from an embryo biopsy of trophoectoderm will be established (usual clinical practice), the chromosomal endowment from the DNA of the embryonic culture medium will be determined, and the results using the NICS and the conventional invasive method (Preimplantation Genetic Testing for Aneuploidy [PGT-A]) will be compared.
The aim of this study was to evaluate the effect of counseling for prenatal screening and diagnostic tests on pregnant women's decisional conflict, being sure of the decision, anxiety levels, and attitudes towards the tests. This prospective randomized controlled intervention study was conducted between the dates June 2017 and March 2018 in a training and research hospital, department of obstetrics and gynecology. The sample of the study consisted of 210 pregnant women who took antenatal care between the 8-11th gestational weeks of whom 112 were in the intervention group and 98 were in the control group. The data were collected by using Data Collection Form, The State-Trait Anxiety Inventory (STAI I-II), Decisional Conflict Scale (DCS), Sure Scale (SURE), Knowledge Evaluation Form about Prenatal Genetic Screening and Diagnostic Tests, Prenatal Counseling Satisfaction Form, Decision Satisfaction Form and Attitudes towards the tests Scale. The study carried out in two stages. In the first stage; women's data were collected before and after participating prenatal genetic screening tests. After the results of the screening test were taken, the data were collected again. Counseling was provided for 112 pregnant women about prenatal screening and diagnostic tests before participating tests. Routine clinical information was given for 98 pregnant women who were in control group. Both groups were pre and post-tested at the same times. In the second phase, pregnant women who had diagnostic tests were evaluated. Counseling for prenatal genetic diagnosis tests was provided for 31 pregnant women in inetervetion group women and routine clinical information was providen for 26 pregnant women who were in control group. Data were collected again with data collection tools before and after the diagnostic test.
Mosaicism within an embryo is defined as the presence of two or more cell populations with different genotypes. Blastocysts classified as mosaic by Preimplamtation Genetic Testing for Aneuploidy (PGT-A) have been reported to implant less and miscarry more frequently than embryos classified as euploid. Because of the unknown impact of mosaicism on embryo development, these embryos are given low priority and are discarded for transfer. However, recent papers on the transfer of human embryos classified by PGT-A as mosaic suggest that embryos with a low fraction of abnormal cells resulting in viable, chromosomally normal ongoing pregnancies, and high-level mosaics resulting in fewer viable pregnancies, but so far none producing mosaic babies. The apparent presence of mosaicism in an embryo is used as a selection criteria for embryo transfer (ET), introducing a strong bias in terms of patient prognosis and embryo quality. Additionally, it is also possible that some embryos are incorrectly classified as "mosaic" due to technical variability derived from the processing of a uniform aneuploid embryo. The aims of this study is to provide evidences about the clinical significance of chromosomal mosaicism in PGT-A cycles by a prospective non-selection based methodology.
Abnormal chromosome number, or aneuploidy, is common in human embryos. It is responsible for more than half of all miscarriages, and it is the leading cause of congenital birth defects. Besides, it has been described that aneuploidy may also affect embryo implantation. Therefore, selecting embryos that have the best chance of implanting and growing into a healthy baby is one of the most important steps in the field of assisted reproduction. Recent advances in genetic technologies, such as Next-Generation Sequencing (NGS), have allowed aneuploidy to be detected with greater sensitivity. The application of this technique to trophectoderm biopsies, taken from embryos before transfer to the uterus, has provided insight into the clinical impact of chromosomal status. This process of screening embryos to make sure they have the right number of chromosomes and to look for any structural abnormalities in the chromosomes is called Preimplantation Genetic Testing for Aneuploidy (PGT-A). It requires specific equipment and trained personnel that will add costs and risks, so non-invasive techniques are sought as an alternative. These non-invasive procedures have been explored by some groups analyzing the spent culture medium where the embryo is cultured up to the time of transfer or freezing. In daily routine, this media is discarded after finishing the embryo culture, but it has been reported that contains traces of embryonic cell-free DNA (cfDNA) that can represent the genetic load of the embryo. However, at the moment there is a high variability in results across studies, with a percentage of concordant results between the media and the trophectoderm biopsy ranging from 3.5 to 85.7%. Thus, the main objective of this project is to validate a new non-invasive method for PGT-A (niPGT-A), based on improved collection and analysis of the culture media to achieve higher rates of sensitivity and specificity and to decrease the effect of some intrinsic difficulties such as low embryonic cfDNA input, mosaicism and maternal contamination.
Lite Run is a new assistive device that may have FDA listing as a Class I device by mid 2017 based on clinical testing of adults, independent agency testing and in-house evaluations. This will be a combined study with multiple purposes with respect to the evaluation of its use with the post-operative pediatric population. A first purpose is to verify safety and feasibility of the device on pediatric patients. A second purpose is to statistically test the effectiveness of Lite Run to decrease physical burden on the therapist during post-operative gait training for children and adolescents with cerebral palsy as compared to current methods of body weight-supported gait training. A third purpose is to measure and qualitatively evaluate the effectiveness of the device on patient outcomes and improving patient and therapist satisfaction.