Active clinical trials for "Aneuploidy"

A diagnostic peripheral maternal blood test taken and the free foetal DNA is analysed and the presence of trisomies using a novel method.

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.

The purpose of this study is to collect samples for the purpose of developing a prenatal aneuploid test using circulating cell free fetal (ccff) nucleic acid from blood samples from pregnant women who have a high-risk pregnancy undergoing invasive prenatal diagnosis by chorionic villus sampling (CVS) and/or genetic amniocentesis. The results of the ccff aneuploid test will be compared to the chromosomal analysis obtained via CVS or amniocentesis.

The primary objective of this study is to determine the performance characteristics (sensitivity and specificity) of the Verinata Health Test to detect fetal Trisomy 21 (T21) compared to karyotype results obtained by amniocentesis or chorionic villus sampling (CVS). Secondary objectives are to assess performance of the test to detect male gender (XY) and other less common aneuploidies (Trisomy 13 (T13), Trisomy 18 (T18), and Turner Syndrome (45, X)) compared to clinical fetal karyotype.

The purpose of this study is to determine if a laboratory test developed by the Sequenom Center for Molecular Medicine (SCMM) that uses a new marker found in the mother's blood can better identify pregnancies that have a child with a chromosome abnormality such as Down syndrome (Trisomy 21), Edwards syndrome (Trisomy 18), or other chromosome abnormality.

In January 2007, the American Congress of Obstetricians and Gynecologists (ACOG) revised its guidelines that now recommend physicians are ethically obligated to fully inform all pregnant women that screening for fetal chromosomal abnormalities including biochemical screening tests and invasive procedures such as CVS or amniocentesis is available, regardless of age. Further, it is entirely up to the patient to decide whether or not she wishes to be screened for fetal chromosomal abnormalities without judgment from the physician. Noninvasive laboratory-developed tests (LDTs) that detect an abnormal amount of maternal and fetal DNA in an expectant mother's blood sample (known as circulating cell-free DNA) are now available. These LDTs have not been cleared or approved by the U.S. Food and Drug Administration (FDA). Although LDTs to date have not been subject to U.S. FDA regulation, certification of the laboratory is required under the Clinical Laboratory Improvement Amendments (CLIA) to ensure the quality and validity of the test. To sample collection study will obtain whole blood specimens from pregnant subjects to be used for development of prenatal assays to assist in the screening for fetal genetic abnormalities, infectious and other diseases, and blood group typing through detection of circulating cell-free DNA extracted from maternal plasma.

Pregnant women with low risk indicators for fetal chromosomal aneuploidy will be enrolled. Study blood will be collected in the first or second trimester at a scheduled prenatal screening visit, processed to plasma, and stored frozen until analysis. Each pregnancy will be followed until delivery and the birth outcome recorded.

A prospective cohort study undergoing ICSI at a private fertility center in Egypt

One of the most remarkable improvements in trophoectoderm cells biopsy is the robustness of diagnosis as result of analyzing multiple cells. However, there is a proportion of embryos that lack of diagnosis due to amplification failure or inconclusive results ranging between 0,4% and 6%. Information about embryo repeated biopsy after an inconclusive result in a first biopsy is very scarce. No specific conclusions can be drawn, due to the limited information currently available concerning reproductive outcomes for patients who had embryo transfer after a second biopsy, due to a first one having an inconclusive result. Investigators purpose a multicenter retrospective observational study with the aim to evaluate the reproductive potential of re-biopsied blastocyst with inconclusive results on preimplantation genetic screening for aneuploidy (PGT-A) using the implantation rate (IR) and ongoing pregnancy rate (OPR) as principal variables.

Despite the significantly higher complete remission rates and improved survival achieved over the last decade，multiple myeloma (MM) patients continue to relapse due to persistence of minimal residual disease (MRD). Currently, numerous studies have evaluated the prognostic value of MRD by detecting immunophenotypic and immunoglobulin (Ig) gene rearrangements from bone marrow aspiration samples. Here the investigators intend to study the clinical utility of Ultrasensitive Chromosomal Aneuploidy Detection (UCAD) as an MRD assay, which is based on plasma cell-free DNA(cfDNA) low-coverage whole-genome sequencing. UCAD is non-invasive and applicable for tumors with high heterogeneity and extramedullary invasions.