Active clinical trials for "Aneuploidy"

While IVF offers an effective treatment for infertility, a significant proportion of IVF cycles still result in failed implantation and early miscarriage. As such, new therapies that improve pregnancy outcomes are highly desirable. Both traditional and laser acupuncture during the IVF cycle has become a popular option for women looking to improve their pregnancy rates. However, studies looking to understand the effects of acupuncture on IVF have demonstrated contradicting results. While some studies show an improvement in pregnancy rates in women undergoing IVF with traditional acupuncture treatment, other studies show no difference. Moreover, there are few studies exploring the role of laser and traditional acupuncture in IVF cycles and the studies done thus far have shown no change in pregnancy rates. However, there have been no studies to-date that have looked at women who are receiving IVF for embryos with normal genetics. This is important because embryos with abnormal genetics are a major reason for failed implantation and miscarriage, which can make the effects of acupuncture on pregnancy rates difficult to evaluate. This study is a pilot study looking to better understand the role of laser and traditional acupuncture as a supplemental treatment in women undergoing euploid (normal genetics) embryo transfer. This is the first study to include only genetically normal embryos, which may help to better understand the effects of laser and traditional acupuncture on IVF outcomes.

The purpose of this study is to compare the number of euploid embryos obtained per metaphase II oocyte in unstimulated (modified natural cycles) and stimulated IVF cycles.

A single centre randomised controlled trial investigating the influence of a novel prematuration system (PMS) using a phosphodiesterase-3 inhibitor for in-vitro maturation of oocytes - pilot study.

Culture conditions of developing embryos are highly controlled in the Embryoscope and are monitored by Time-lapse videography to produce 3D images at different stages.This cannot be done under conventional culture conditions. The 3D images thus produced,are analysed with the help of Embryoviewer, a part of the Embryoscope,through latest software. Embryoviewer also identifies embryos for transfer, freezing and to be discarded.

Gene Security Network has developed a novel technology called Parental SupportTM (PS) which is used for Preimplantation Genetic Screening/Diagnosis (PGS/D) during in vitro fertilization (IVF). This technology allows IVF physicians to identify embryos, prior to transfer to the uterus, which have the best chance of developing into healthy children. The purpose of this study is to validate clinical use of PS to detect specific genetic mutation(s) known to cause severe inheritable diseases in embryos produced by at-risk couples. This may be done while simultaneously testing these embryos for aneuploidy. This study will allow for first of its kind commercial PGS/D testing to detect disease-associated genetic mutations together with aneuploidy screening.

Preimplantation Genetic Screening (PGS) is used for the selection of chromosomally normal embryos before the transfer in IVF treatments in many cases. There is great debate in the scientific community as to whether this is an efficient practice in patients of different prognosis. This prospective and randomized study seeks to study the results of chromosomal diagnosis using the new Comparative Genomic hybridization (CGH) arrays technique by practicing Preimplantation Genetic Screening (PGS) in day three biopsy on one arm of the study and not on the other arm in order to compare the results. The investigators will study the ongoing pregnancy rate of each oocyte retrieval and the ongoing implantation rate with Day 5 embryos (blastocysts) in IVF/ intracytoplasmic sperm injection (ICSI) treatments of embryos from two different groups of patients: Advanced Age Female Patients (38 - 41 years of age) and Male severe factor (≥2 million spermatozoids/ml.).

The investigators propose a randomized controlled trial to assess baseline maternal knowledge of and attitudes toward commercial prenatal genetic testing laboratories' genetic privacy practices, and to determine whether a brief educational intervention alters these attitudes.

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.

The purpose of this study is to investigate the prevalence of soft markers which will be identified during a second trimester ultrasound. Secondary aims were to estimate the association between the soft markers and trisomies 13, 18 and 21 as well as the effect on the number of invasive tests will be performed.

Pregnancy rates for women over 35 years old are significantly lower when compared to younger women. One of the causes for this decrease is believed to be chromosomal aneuploidy. Chromosomal aneuploidy is a natural phenomena and occurs in women of every age and has been implicated in spontaneous miscarriages, and preimplantation embryo wastage (Hassold and Hunt, 2001). As maternal age increases, so too does the incidence of chromosomal aneuploidy. Embryo quality from older patients undergoing IVF tends to be reduced and associated with higher rates of chromosomal abnormalities when compared to good quality embryos (Munne et al., 1995). Chromosomal aneuploidy derives from the improper segregation of chromosomes during preimplantation development. The process of segregation, or mitosis, includes synthesis of the complete genome, equal division of chromosomes to opposite poles by the spindle apparatus, and separation of the two cells by cytokinesis, yielding two chromosomally identical cells. The entire process of cellular and genetic replication requires energy in the form of adenosine tri phosphate (ATP). ATP is mainly produced in mitochondria in the process known as the electron transport chain (ETC). There are many important molecules required for ATP production, CoQ10 can act as the appropriate carrier of electrons through the ETC. When a deficiency in CoQ10 is present, ATP production is decreased resulting in aneuploidy (Bentov et al., 2013). Similarly, research has shown that chromosome alignment and spindle formation are affected by mtDNA copy number (Ge et al., 2012). It has also been shown that the transfer of ooplasm from young, healthy oocyte donors into oocytes of women with repeated embryonic failure has result in children with subsequent mitochondrial heteroplasmy (Cohen et al., 1998). CoQ10 concentrations have been shown to decrease as age increases (Bentov et al., 2011). Consequently, the decrease in CoQ10 concentrations seen in older women may cause an increase in chromosomal aneuploidy in subsequent embryos (Bentov et al., 2013). In this pilot study, we test the hypothesis that the supplementation of CoQ10 prior to an IVF cycle can increase mitochondrial DNA activity and possibly decrease chromosomal aneuploidy in AMA patients.