A5002751899- Prenatal Screening and Diagnostics
- Assisted Reproductive Technology and Twin Pregnancy
- Genetic Syndromes and Imprinting
- Reproductive Health and Technologies
- Fetal and Pediatric Neurological Disorders
- Microtubule and mitosis dynamics
- Gestational Trophoblastic Disease Studies
- Genomic variations and chromosomal abnormalities
- Parvovirus B19 Infection Studies
- Renal and related cancers
Igenomix
2024-2025
Can chromosomal abnormalities beyond copy-number aneuploidies (i.e. ploidy level and microdeletions (MDs)) be detected using a preimplantation genetic testing (PGT) platform?The proposed integrated approach accurately assesses the most common pathogenic causative of genomic disorders, expanding clinical utility PGT.Standard methodologies employed in for aneuploidy (PGT-A) identify but cannot determine nor presence recurrent MDs responsible disorders. Transferring embryos carrying these can...
To minimise the influence of chromosomal abnormalities during IVF treatment, embryos can be screened before transfer using preimplantation genetic testing. This typically involves an invasive trophectoderm biopsy at blastocyst stage, where 4-8 cells are collected and analysed. However, emerging evidence indicates that, as develop in vitro culture media, they release cell-free DNA into media; providing alternative source material that accessed non-invasively. Spent media samples contain...
Human reproduction is inherently inefficient and 1 in 6 people worldwide suffer infertility. In vitro fertilisation (IVF) can help some couples conceive, but only ~30% of cycles are successful. One factor affecting IVF efficacy mitotic-origin (mosaic) aneuploidy which embryos contain a mixture cells with different numbers chromosomes. We previously showed that chromosome segregation error phenotypes frequent the first mitotic division human embryo. However, cause these errors impact on...
To minimise the influence of chromosomal abnormalities during IVF treatment, embryos can be screened before transfer using preimplantation genetic testing. This typically involves an invasive trophectoderm biopsy at blastocyst stage, where 4–8 cells are collected and analysed. However, emerging evidence indicates that, as develop in vitro culture media, they release cell-free DNA into providing alternative source material that accessed non-invasively. Spent media samples contain embryo...
Abstract Study question Is embryonic aneuploidy, as determined by Next Generation Sequencing (NGS) based Pre-Implantation Genetic Testing for Aneuploidy (PGT-A) related to female ethnicity? Summary answer In this study, when determining aneuploidy through NGS-based PGT-A, ethnicity did not have an impact on aneuploidy. What is known already Inequalities in pregnancy outcomes following in-vitro fertilization (IVF) often been attributed potential disparities genetic susceptibility, with past...
Abstract Study question To assess the feasibility of running a large randomised controlled trial (RCT) evaluating benefit preimplantation genetic testing for aneuploidy (PGT-A) embryo selection. Summary answer Running PGT-A RCT is feasible. Considerations include participant recruitment, seven-day biopsy-embryologist availability and logistical complexities. What known already Critics effectiveness leading to concerns about false positives negatives, unnecessary discarding clinical...
Abstract Study question Is expanded carrier screening an effective tool to identify carriers of clinically relevant genes and determine the reproductive risk between a donor recipient pair? Summary answer This study has determined that there is strong rationale for performing matching according results, especially gamete programs. What known already Carrier (CS) identifies autosomal recessive (AR) and/or X-linked (XL) genetic conditions establish risk. If both partners (egg sperm providers)...