Active clinical trials for "Aneuploidy"

In view of insufficient evidence to routinely use Preimplantation Genetic Screening (PGS) to improve success rates after IVF, we test the hypothesis that patients with advanced maternal age (AMA) have a higher implantation rate (IR) after embryo transfer (ET) of chromosomally normal embryos following PGS compared to patients who had an ET without PGS. In a randomized controlled trial (RCT) in patients with AMA (≥ 35 years), the clinical IR per embryo transferred will be compared after ET on day 5 or 6 between the PGS group (embryo biopsy and analysis of chromosomes 13, 16, 18, 21, 22, X and Y) and the control group without PGS.

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.

A standard part of obstetrical care is offering prenatal genetic screening. Numerous professional guidelines have emphasized the importance of pretest counseling for prenatal genetic screenings. Informed consent includes the optional nature of the test, information on the conditions being screened, possible test results, implication of each result, and the type of test offered (screening or diagnostic). This responsibility falls on the physician in a busy clinic. Technology may be able to address this limitation and give consistent pretest counseling for patients waiting for their appointment. This study is looking to evaluate the use of computer-aided genetics education module for facilitating decision making about prenatal genetic screening and testing for fetal chromosome conditions and carrier status.

There is an ongoing debate regarding how cell-free DNA (cfDNA) screening can best be incorporated into current prenatal screening algorithms for chromosomal abnormalities. Test performance of cfDNA has been shown to be better that first-trimester combined screening (FTCS). However, the cost of the cfDNA testing is considered too high to adopt as first line screening. Moreover, FTCS includes a detailed ultrasound examination of the fetus with nuchal translucency (NT) measurement that allows for early detection of fetal abnormalities. An approach in which every woman are offered an early anatomy scan along with cfDNA may also be a reasonable option. Recently a randomized controlled trial, including 1,518 women with singleton pregnancy undergoing first-trimester screening, compared the screening performance of FTCS with an approach that uses the combination of a detailed ultrasound examination and cfDNA analysis. The trial showed that first-trimester risk assessment for trisomy 21 that includes a detailed ultrasound examination along cfDNA was associated with a significant reduction in the false-positive rate compared with FTCS. This approach obviates the need for maternal serum free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A in screening for fetal aneuploidy. Despite robust evidence on the very high detection rate of cfDNA in detecting trisomy 21, literature is lacking on data regarding women's experience and emotional well-being and satisfaction after test-results of women offered cfDNA compared to those offered FTCS.

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.

The purpose of this study is to assess the impact of Comprehensive Chromosome Screening(CCS) on patients with low ovarian reserve in an effort to improve success during in vitro fertilization and decrease the time to successful pregnancy.

Can a combination of prenatal screening blood tests, early ultrasound, and a 3D ultrasound of the fetal face at approximately 20 weeks gestation identify fetuses with congenital anomalies and predict maternal and fetal complications?

This prospective blinded study will assess the diagnostic capability of an informatics enhanced SNP based technology (Parental Support) to identify pregnant women who are carrying a fetus with an aneuploidy from fee floating DNA in the maternal blood.

This study plans to learn more about how to measure the way the the body's energy system works in boys with Klinefelter syndrome, including the heart, lungs, muscles, and liver. This is important to know so that investigators understand how hormones and an extra X chromosome relate to diseases such as diabetes, extra weight gain, heart disease and liver diseases.

The purpose of this study is to develop and evaluate a blood test for pregnant women for detection of fetal aneuploidy.