Active clinical trials for "Aneuploidy"

To determine how often embryos reported to be abnormal by preimplantation genetic testing result in liveborn infants. To evaluate whether the pregnancies that result from these embryos are higher risk for complications and whether the resulting babies have higher risk for health or developmental issues in the first five years after birth.

This study intends to randomly group the patients with advanced maternal age and poor ovarian response, and the study group will undergo polar body biopsy, and the next-generation sequencing(NGS) technology will be used to evaluate the polar body euploidy and then predict the euploidy of the oocyte. Embryo transfer priority according to the NGS test results and morphological scores. In the control group undergo routine culture and the transfer priority is determined according to the morphological score only. The transfer of frozen embryos at the cleavage or blastocyst stage was permitted. Cumulative live birth rate, miscarriage rate and time required to obtain a live birth up to two ovulatory cycles in a year.

Assessing whether Preimplantation Genetic Testing for Aneuploidy (PGT-A) can increase the ongoing pregnancy rate per transferred embryo and can decrease the time to pregnancy and miscarriage rate in patients with Recurrent Implantation Failure (RIF)

Chromosomal aneuploidies are linked with spontaneous miscarriages and abnormal offspring in human pregnancies. In addition, some types of aneuploidies are reported to prevent implantation. Thus, there is a need to identify the embryos with highest implantation potential on in vitro fertilization (IVF) programs. Since embryo morphology and kinetics have a weak association with embryo ploidy, trophectoderm biopsy plus Next-Generation Sequencing (NGS) is becoming a very popular approach to determine the embryo chromosomal status. This technique is called Preimplantation Genetic Testing for Aneuploidy (PGT-A). Although shown to be efficient, it is invasive for the embryo, requires specific technical skills and it remains expensive. Therefore, the development of a non-invasive, rapid and cheaper method for assessing embryo ploidy status would represent a progress in the field of IVF. The non-invasive approach has been explored by some groups that analyzed the Spent Blastocyst Medium (SBM) where the embryo was incubated up to the time of transfer or freezing. In daily routine, this media is discarded after finishing the culture of the embryo. Importantly, though, this media reportedly contains traces of embryonic cell-free DNA (cfDNA) that can represent the genetic load of the embryo. On the basis of that, the hypothesis of this study is that embryo prioritization according to the analysis of the embryonic cfDNA in the SBM could improve ongoing pregnancy rate in 10 percentual points compared to standard blastocyst transfer based on morphology.

This study is to compare the efficacy in embryo selection based on morphology alone compared to morphology and non-invasive preimplantation genetic testing for aneuploidy (NIPGT-A) in infertile women undergoing in vitro fertilization (IVF). We supposed the embryo selection based on morphology and NIPGT-A results in a higher live birth rate and a lower miscarriage rate in IVF as compared with that based on morphology alone. Therefore we would like to conduct a double-blind randomized controlled trial. Infertile women undergoing IVF will be enrolled. The spent culture medium (SCM) of each blastocyst will be frozen individually. They will be randomized into two groups: (1) the intervention group based on morphology and NIPGT-A and (2) the control group based on morphology alone. In the control group, blastocysts with the best quality morphology will be replaced first. In the intervention group, blastocysts with the best morphology and euploid result of SCM will be replaced first.The primary outcome is a live birth per the first embryo transfer. We would like to compare live birth rates and miscarriage rates between the two groups.

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).

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.

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.

To determine the diagnostic accuracy of non-invasive preimplantation genetic testing for aneuploidy (NI-PGT-A) for embryo selection.

This project aims to provide high- quality evidence to inform decisions by health care organisations about using first-tier non-invasive prenatal screening (NIPS) to replace traditional screening tests for trisomy 21, and potentially to screen for other fetal chromosome anomalies. We will compare the current screening approach of second-tier NIPS with the use of first-tier NIPS in a large cohort of pregnant women.