View clinical trials related to Aneuploidy.
Filter by:A multinational multi-centre, randomized, controlled non-blinded trial with participation of three fertility clinics in Denmark and one in Spain to assess the efficacy and safety of preimplantation genetic testing for aneuploidy (PGT-A) in 37-41-year-old women.
Aneuploidy may be used as a more sensitive diagnostic tool to detect peritoneal metastasis compared to conventional cytology and imaging techniques. Our aim is to establish whether aneuploidy as detected in cfDNA (as a measure for ctDNA) in PLF of patients with GC may hold value as an additional staging and tumor evaluation method in GC patients.
IVF is the most commonly employed form of assisted reproductive technologies (ART) for the 10-15% of couples who face difficulties becoming pregnant. Many individuals elect to have their IVF-derived embryos analyzed using pregenetic implantation testing for aneuploidies (PGT-A). The use of PGT-A is particularly beneficial for patients at higher risk for aneuploidy, such as those of advanced maternal age and those faced with recurrent pregnancy loss or recurrent implantation failure. Segmental aneuploidies are generated when a small piece of a chromosome is gained or lost during cell division, resulting in subchromosomal copy number (CN) changes. The frequency of segmental aneuploidies during the cleavage stage varies between studies, from as low as 3.9% to 15% and up to 70 % with no reported correlation with maternal age. This can be explained by the fact that, unlike whole chromosome aneuploidies, segmental aneuploidies most often involve paternally inherited chromosomes.
This observational study aims to recruit pregnant women between 18 to 24 weeks of gestation to investigate the relationship between amniotic membrane thickness and fetal chromosomal abnormalities. The primary objectives are to establish whether a correlation exists between the measured thickness of the amniotic membrane and the presence of chromosomal abnormalities in the fetus, and to determine a cutoff value for amniotic membrane thickness that could indicate an increased risk of such abnormalities. Additionally, the study seeks to assess whether the inclusion of amniotic membrane thickness as a biomarker can enhance the detection rate of non-invasive prenatal testing (NIPT) and nuchal translucency (NT) for chromosomal abnormalities.
Infertile women attending for PGT at the Centre of Assisted Reproduction and Embryology, Queen Mary Hospital and Kwong Wah Hospital will be recruited during ovarian stimulation for IVF. Subsequently, they will be randomly assigned on the day of oocyte retrieval by a laboratory staff into one of the following two groups in a 1:1 ratio : (1) the microfluidic chip group and (2) the density gradient centrifugation group for sperm preparation and subsequent use in fertilization. Other IVF procedures will be the same as the standard practice of the Centre. Both women and clinicians will be blinded from the group allocation i.e. a double blind study.
Purpose: To evaluate preimplantation genetic testing counseling interventions on patients undergoing in vitro fertilization treatment. Preimplantation genetic testing for aneuploidy (PGT) allows patients undergoing in vitro fertilization (IVF) to screen embryos for genetic disorders. Preimplantation genetic testing for aneuploidy (PGT-A) is the testing most commonly ordered, and it screens for whole chromosome and large partial chromosome duplications or deletions. Currently, patient counseling varies based on the clinic, ranging from appointments to group seminars with a genetic counselor (GC), geneticist or reproductive endocrinology and infertility (REI) physicians for education regarding PGT. Patient knowledge regarding PGT has been varied with some studies indicating sufficient knowledge, while other studies have shown a potential lack of knowledge. One study indicated a third of patients had regret regarding their decision of whether or not to use PGT-A during IVF and another study indicated patients who choose to undergo PGT did so for reasons that were not evidence based. Additionally, educational materials have been illustrated to be inconsistent and with inappropriate literacy in regards to PGT counseling. One study has shown the potential of improvement with written intervention amongst providers and patients in regards to PGT related to a single genetic condition. The investigators hope to assess the efficacy of PGT-A educational and counseling interventions on patients undergoing IVF.
This monocentric retrospective observational study aims to evaluate the efficacy of pre-implantation genetic testing for monogenic diseases (PGT-M). The effectiveness will be assessed in terms of live birth rate (LBR), cumulative live birth rate (CLBR) per couple, and abortion rate (AR). Considering how many cycles the participants have undergone to achieve a viable blastocyst. The secondary objective is to evaluate the incidence of aneuploidy in unaffected embryos, in order to understand the need for pre-implantation genetic testing for aneuploidy (PGT-A)in addition to PGT-M.
The study aims to compare two different protocols for first trimester screening of aneuploidies, one based on nuchal translucency and NIPT and another one based on the integration between combined test and NIPT, in order to identify which is the most adequate for the Campania region. In particular, a cost-benefit comparison will be made which will take into account for each method: - Actual costs; - Percentage of patients who agree to undergo the proposed screening and number of patients who undergo extra tests not included in the screening protocol; - Post-invasive procedure miscarriage rate; - False positives (fetuses undergoing an invasive procedure for a positive screen, which have a normal karyotype).
The goal of this observational study is to determine is there an association between the rates of aneuploidy and the different ranges of serum Antimullerian hormone (AMH) levels. Retrospective, single-centre study of patients undergoing IVF and preimplantation genetic testing with aneuploidy at the blastocyst stage between January 2018 and December 2022.
This is a prospective randomised study of the evaluation of the clinical IVF results after invasive PGT-A embryo selection versus Non-invasive PGT-A assisted embryo selection in subfertile women.