Publications by authors named "S Madjunkova"
Article Synopsis
- The study aimed to assess the positive predictive value (PPV) of prenatal cell-free DNA (cfDNA) screening for detecting chromosomal abnormalities in pregnancies resulting from either in vitro fertilization or the transfer of untested embryos.
- Conducted at a fertility clinic, the research involved analyzing 2,973 cfDNA screening results for common trisomies and microdeletions, comparing outcomes between patients who underwent Preimplantation Genetic Testing for Aneuploidy (PGT-A) and those who did not.
- Results showed a high rate of cfDNA screening success (99.9%) with similar fetal fractions in both groups, and the study highlighted several positive screening results indicating chromosomal issues, emphasizing the
Meiotic recombination is crucial for human genetic diversity and chromosome segregation accuracy. Understanding its variation across individuals and the processes by which it goes awry are long-standing goals in human genetics. Current approaches for inferring recombination landscapes rely either on population genetic patterns of linkage disequilibrium (LD)-capturing a time-averaged view-or on direct detection of crossovers in gametes or multigeneration pedigrees, which limits data set scale and availability.
View Article and Find Full Text PDFObjective: To understand the clinical risks associated with the transfer of embryos classified as a mosaic using preimplantation genetic testing for aneuploidy.
Design: Analysis of data collected between 2017 and 2023.
Setting: Multicenter.
Meiotic recombination is crucial for human genetic diversity and chromosome segregation accuracy. Understanding its variation across individuals and the processes by which it goes awry are long-standing goals in human genetics. Current approaches for inferring recombination landscapes either rely on population genetic patterns of linkage disequilibrium (LD)-capturing a time-averaged view-or direct detection of crossovers in gametes or multi-generation pedigrees, which limits dataset scale and availability.
View Article and Find Full Text PDFArticle Synopsis
- ICSI (Intracytoplasmic sperm injection) is a popular method of assisted reproduction, but there are uncertainties regarding the best workflow timing between oocyte maturation, denudation, and the actual ICSI procedure.
- This study analyzed data from 113 patients across 179 IVF cycles, assessing how timing influences outcomes like egg maturation, fertilization, and genetic viability of embryos.
- The findings indicate that delaying certain processes can enhance embryo quality; specifically, postponing ovarian pick-up (OPU) improves maturation and blastulation rates, especially in unexplained infertility cases, while longer incubation time positively affects genetic outcomes in younger patients.