Genome‐wide aneuploidy detected by mFast‐SeqS in circulating cell‐free DNA is associated with poor response to pembrolizumab in patients with advanced urothelial cancer
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Oncology"
DOI: 10.1002/1878-0261.13196
Abstract: Second‐line treatment with immune checkpoint inhibition in patients with metastatic urothelial cancer (mUC) has a low success rate (~ 20%). Circulating tumour‐derived DNA (ctDNA) levels may guide patient stratification, provided that an affordable and robust assay… read more here.
Keywords: mfast seqs; urothelial cancer; seqs; response ... See more keywords
Preimplantation genetic testing for aneuploidy and chromosomal structural rearrangement: A summary of a nationwide study by the Japan Society of Obstetrics and Gynecology
Sign Up to like & getrecommendations! Published in 2023 at "Reproductive Medicine and Biology"
DOI: 10.1002/rmb2.12518
Abstract: Abstract Purpose The Japan Society of Obstetrics and Gynecology conducted a nationwide clinical study to evaluate the pregnancy outcomes of preimplantation genetic testing for aneuploidy or chromosomal structural rearrangement (PGT‐A/SR). Methods Patients that had experienced… read more here.
Keywords: chromosomal structural; structural rearrangement; obstetrics; pregnancy ... See more keywords
Non-random Mis-segregation of Human Chromosomes
Sign Up to like & getrecommendations! Published in 2018 at "Cell Reports"
DOI: 10.1016/j.celrep.2018.05.047
Abstract: Summary A common assumption is that human chromosomes carry equal chances of mis-segregation during compromised cell division. Human chromosomes vary in multiple parameters that might generate bias, but technological limitations have precluded a comprehensive analysis… read more here.
Keywords: mis segregation; aneuploidy; segregation; cell ... See more keywords
Validation of concurrent preimplantation genetic testing for polygenic and monogenic disorders, structural rearrangements, and whole and segmental chromosome aneuploidy with a single universal platform.
Sign Up to like & getrecommendations! Published in 2019 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2019.04.004
Abstract: Preimplantation genetic testing (PGT) has been successfully applied to reduce the risk of miscarriage, improve IVF success rates, and prevent inheritance of monogenic disease and unbalanced translocations. The present study provides the first method capable… read more here.
Keywords: genetic testing; structural rearrangements; aneuploidy; platform ... See more keywords
Only segmental or mosaic aneuploid embryos available for transfer: a rare phenomenon in preimplantation genetic screening (PGS) cycles using targeted next generation sequencing (NGS)
Sign Up to like & getrecommendations! Published in 2017 at "Fertility and Sterility"
DOI: 10.1016/j.fertnstert.2017.07.814
Abstract: OBJECTIVE: Use of NGS for PGS improves resolution for detecting segmental aneuploidy (SEG) and mosaicism (MOS). However, these additional categories create difficult management decisions when the only available embryo for transfer falls into one of… read more here.
Keywords: embryos; age; aneuploidy; seg mos ... See more keywords
The presence of a polymorphism in the maternal MTHFR gene does not correlate with the incidence of embryonic aneuploidy
Sign Up to like & getrecommendations! Published in 2018 at "Fertility and Sterility"
DOI: 10.1016/j.fertnstert.2018.07.429
Abstract: Objective: Methylenetetrahydrofolate reductase (MTHFR) plays an important role in catalyzing the conversion of 5, 10 methylenetetrahydrofolate into 5-methylenetetrahydrofolate, the predominant circulating form of folate in humans. Variations in the sequence of MTHFR gene have been… read more here.
Keywords: aneuploidy; presence polymorphism; mthfr gene; mthfr ... See more keywords
Embryonic aneuploidy rates are equivalent in natural cycles and gonadotropin-stimulated cycles.
Sign Up to like & getrecommendations! Published in 2019 at "Fertility and sterility"
DOI: 10.1016/j.fertnstert.2019.05.039
Abstract: OBJECTIVE To determine if natural selection and follicular stimulation produces a lower risk for embryonic aneuploidy than that attained following superovulation with exogenous gonadotropins. DESIGN Prospective observational with historical control group. SETTING Large academically affiliated… read more here.
Keywords: ivf cycles; aneuploidy rates; aneuploidy; rates equivalent ... See more keywords
Is there a correlation between paternal age and aneuploidy rate? An analysis of 3,118 embryos derived from young egg donors.
Sign Up to like & getrecommendations! Published in 2020 at "Fertility and sterility"
DOI: 10.1016/j.fertnstert.2020.03.034
Abstract: OBJECTIVE To investigate a possible correlation between chromosomal aberrations and paternal age, analyzing embryos derived from young oocyte donors, with available preimplantation genetic testing for aneuploidy results from day 5/6 trophectoderm biopsy obtained by next-generation… read more here.
Keywords: embryos; age; group; paternal age ... See more keywords
The concordance rates of an initial trophectoderm biopsy with the rest of the embryo using PGTseq, a targeted next-generation sequencing platform for preimplantation genetic testing-aneuploidy.
Sign Up to like & getrecommendations! Published in 2021 at "Fertility and sterility"
DOI: 10.1016/j.fertnstert.2021.10.011
Abstract: OBJECTIVE To determine how often the results of a single trophectoderm (TE) biopsy tested by PGTseq, a targeted next-generation sequencing preimplantation genetic testing for aneuploidy technology, reflect the biology of the rest of the embryo.… read more here.
Keywords: preimplantation genetic; concordance; embryo; biopsy ... See more keywords
Prevalence and authenticity of de-novo segmental aneuploidy (>16 Mb) in human blastocysts as detected by next-generation sequencing.
Sign Up to like & getrecommendations! Published in 2018 at "Reproductive biomedicine online"
DOI: 10.1016/j.rbmo.2018.08.006
Abstract: RESEARCH QUESTION What is the prevalence and authenticity of de-novo segmental aneuploidies (>16 Mb) detected by next-generation sequencing (NGS) in human preimplantation blastocysts? DESIGN Between April 2013 and June 2016, 5735 blastocysts from 1854 couples… read more here.
Keywords: segmental aneuploidy; prevalence authenticity; novo segmental; aneuploidy ... See more keywords
Differences in paternal and maternal contribution to embryo aneuploidy
Sign Up to like & getrecommendations! Published in 2019 at "Reproductive BioMedicine Online"
DOI: 10.1016/j.rbmo.2019.03.033
Abstract: Introduction Advanced maternal age and male factor infertility have been related to the presence of aneuploidies in the embryos. The objective of this study was to evaluate the different effect of both factors in the… read more here.
Keywords: aneuploidy; differences paternal; ion; maternal age ... See more keywords