A5029122407- Prenatal Screening and Diagnostics
- Reproductive Biology and Fertility
- Assisted Reproductive Technology and Twin Pregnancy
- Genetic Syndromes and Imprinting
- Genomic variations and chromosomal abnormalities
- Pluripotent Stem Cells Research
- Chromosomal and Genetic Variations
- Renal and related cancers
- Congenital Anomalies and Fetal Surgery
- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- Reproductive Health and Technologies
- Sperm and Testicular Function
- Genetic Mapping and Diversity in Plants and Animals
- Birth, Development, and Health
- Parvovirus B19 Infection Studies
- Tumors and Oncological Cases
- Ovarian function and disorders
- Molecular Biology Techniques and Applications
- Reproductive System and Pregnancy
- Metabolomics and Mass Spectrometry Studies
- Cancer Genomics and Diagnostics
- Animal Genetics and Reproduction
- Gastrointestinal disorders and treatments
- Speech and dialogue systems
University of Oxford
2011-2021
John Radcliffe Hospital
2008-2021
Science Oxford
2018-2020
Oxford Fertility
2010-2019
Bourn Hall Clinic
2019
Vitenparken
2018
Genomics (United Kingdom)
2017
William Harvey Research Institute
2017
Queen Mary University of London
2017
Illumina (United Kingdom)
2016
Mitochondria play a vital role in embryo development. They are the principal site of energy production and have various other critical cellular functions. Despite importance this organelle, little is known about extent variation mitochondrial DNA (mtDNA) between individual human embryos prior to implantation. This study investigated biological clinical relevance quantity mtDNA 379 embryos. These were examined via combination microarray comparative genomic hybridisation (aCGH), quantitative...
Recent studies have suggested that biopsy of several trophectoderm (TE) cells from blastocysts followed by comparative genomic hybridization (CGH) analysis might represent an optimal strategy for aneuploidy detection, but few data on accuracy are available. The main question concerns the rate mosaicism at blastocyst stage, and to what extent this cause misdiagnoses. We assessed rates evaluated efficiency CGH microarray-CGH (aCGH) TE analysis. A total 52 blastocysts, 20 couples, were biopsied...
To determine the pregnancy outcome potential of mosaic embryos, detected by means preimplantation genetic screening (PGS) with use next-generation sequencing (NGS).Retrospective study.Genetics laboratories.PGS cycles during which either or euploid embryos were replaced.Blastocysts biopsied and processed NGS, followed frozen embryo transfer. Trophectoderm (TE) biopsies classified as if they had 20%-80% abnormal cells.Implantation, miscarriage rates, ongoing implantation rates (OIRs) compared...
<h3>Background</h3> The majority of human embryos created using in vitro fertilisation (IVF) techniques are aneuploid. Comprehensive chromosome screening methods, applicable to single cells biopsied from preimplantation embryos, allow reliable identification and transfer euploid embryos. Recently, randomised trials such methods have indicated that aneuploidy improves IVF success rates. However, the high cost testing has restricted availability this potentially beneficial strategy. This study...
The high frequency of chromosomal abnormalities observed in human gametes and embryos is unlike that seen other mammalian species great clinical significance, leading to rates pregnancy loss, live-born children with aneuploid syndromes. Although much known concerning the aneuploidy oocytes, cleavage stage fetuses during pregnancy, status blastocysts has been relatively little investigated. A total 158 good quality were examined using micromanipulation, whole genome amplification comparative...
One of the most important factors influencing embryo viability is chromosome imbalance (aneuploidy). Embryos derived from aneuploid gametes have little potential for forming a viable pregnancy, but cannot be distinguished normal embryos using standard morphological evaluation. For more than decade, preimplantation genetic screening (PGS) has been used to assist in identification embryos. However, current strategies, based upon cell biopsy followed by fluorescent situhybridization, allow less...
Morphological assessments are the main way in which fertility clinics select vitro generated embryo(s) for transfer to uterus. However, it is widely acknowledged that microscopic appearance of an embryo only weakly correlated with its viability. Furthermore, extent morphology affected by aneuploidy, a genetic defect common human preimplantation embryos, remains unclear. Aneuploidy great relevance selection as represents one most important causes implantation failure and miscarriage. The...
Balanced chromosomal rearrangements represent one of the most frequent indications for preimplantation genetic diagnosis (PGD). Although fluorescence in situ hybridization (FISH) has been successfully employed such cases, this approach usually restricts assessment chromosomes involved rearrangement. Furthermore, with FISH-based strategies, it is sometimes necessary to create patient-specific protocols, increasing waiting time and costs. In current study, we explored use two comprehensive...
Female meiosis is comprised by two cell divisions, I (MI) and II (MII) different stages at which the development of oocyte temporarily halted. In case MI, this pause can potentially last for four to five decades. This added layer complexity distinguishes female gametogenesis from its male counterpart. The single most important genetic factor impacting human reproductive success aneuploidy. Aneuploid embryos may undergo permanent arrest during preimplantation development, fail implant or...
What is the incidence, origin and clinical significance of segmental aneuploidy in human oocytes preimplantation embryos?Segmental occurs at a considerable frequency embryos with majority being mitotic origin.In recent years, accurate techniques for detection single cells have been developed. Research using such methods has confirmed that common feature embryos. However, thus far research mainly focused on loss or gain whole chromosomes. We utilized sensitive molecular to study another...
Does the amount of mitochondrial DNA (mtDNA) in blastocyst biopsy specimens have potential to serve as a biomarker euploid embryo implantation ability, independent morphology?The results this study strongly suggest that elevated mtDNA levels, above previously defined threshold, are associated with failure and represent an viability.Improved methods selection highly desirable order increase efficiency IVF treatment. At present, even transfer chromosomally normal embryos high morphological...
Can quantification of mitochondrial DNA (mtDNA) in trophectoderm (TE) biopsy samples provide information concerning the viability a blastocyst, potentially enhancing embryo selection and improving IVF treatment outcomes?This study demonstrated that euploid blastocysts good morphology, but with high mtDNA levels had greatly reduced implantation potential.Better methods leading to outcome improvement are necessary, as transfer chromosomally normal embryos morphological grade cannot guarantee...
Classical cytogenetic methods and fluorescent in situ hybridization (FISH) have been employed for the analysis of chromosomal abnormalities human oocytes. However, these are limited by need to spread sample on a microscope slide, process that risks artefactual chromosome loss. Comparative genomic (CGH) is DNA-based method enables investigation entire complement. We optimized evaluated CGH protocol first polar bodies (PBs) The was then obtain detailed picture meiosis I errors oogenesis.107...