Papers by Svetlana Madjunkova
Fertility and Sterility
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Fertility and Sterility
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Fertility and Sterility
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Human Reproduction, Jun 29, 2022
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Human Reproduction, Jun 29, 2022
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Human Reproduction, Jun 1, 2023
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Human Reproduction, Jun 1, 2023
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bioRxiv (Cold Spring Harbor Laboratory), Jun 9, 2023
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Reproductive Biomedicine Online, Jul 1, 2022
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Balkan Journal of Medical Genetics, Dec 1, 2012
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Fertility and Sterility, Oct 1, 2022
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Human Reproduction, Jun 1, 2023
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Reproductive Biomedicine Online, Apr 1, 2019
Introduction Preimplantation genetic testing without trophectoderm (TE) biopsy is an attractive a... more Introduction Preimplantation genetic testing without trophectoderm (TE) biopsy is an attractive approach to avoid any potential risk due to an invasive procedure.The overriding goalof the non- invasive preimplantation genetic testing (NIPGT) is to utilize the cell free embryonic DNA (cfeDNA) in assessment of chromosomal status of the embryo (NIPGT-A). Clinical application of this approach still depends on the elucidation of the cfeDNA origin and degree of representation of the whole embryo. Our aim is to develop a NIPGT-A test for whole genome screening of embryos. Material & Methods The study received research ethics approval from University of Toronto (REB# 30251). Thirteen patients (median age, 37.3 years; range, 29-42)undergoing IVF-ICSI with PGT at CReATe Fertility Centre, Toronto, Canada, were included in the study. We collected cfeDNA from spent embryo culture media together with blastocoel fluid from 26 embryos (NIPGT-A samples)under strict aseptic and clean room conditions. The corresponding TE samples were used as controls. NIPGT- A samples contained cfeDNA released from the embryo within 24-48 hours in culture (after d4).Media without embryo cultured on the same dish was used as a negative control. All collected samples were frozen and stored at -80°C until tested. For PGT-A using TE biopsy and NIPGT-A samples, SurePlex kit (BlueGnome) was used for whole genome amplification (WGA) of embryonic DNA. NGS using VeriSeq PGS kit (Illumina) was used to determine the chromosomal copy number of the analyzed samples. Concordance rates for whole chromosome copy number (WCN) between NIPGT-A and corresponding TE biopsy samples were calculated and statistically evaluated by Fisher exact test (significant at P Results PGT-A results from TE biopsy were as follow: 9 euploid, 9 aneuploid and 8 mosaic. NIPGT-A results showed 11 euploid, 9 aneuploid and 6 mosaic profiles. Our results demonstrate high concordance rate per sample for whole chromosome copy number between NIPGT and TE biopsy samples in their corresponding blastocysts:1)Ploidy status (euploid or aneuploid) NIPGT-A vs TE - 100% (26/26); 2) Euploid samples NIPGT-A vs TE – 100% (17/17); 3)Whole chromosome aneuploidy NIPGT-A vs TE – 100% (9/9). However, concordance rate for mosaic abnormality between NIPGT and TE biopsy samples was 55.6% (5/9) which can be explained by an already reported discordance between initial and repeated TE biopsy results from mosaic embryos ( Maxwell et al., 2016 ) Conclusions Spent embryo culture medium combined with blastocoels fluid has great potential to be used as a source of embryonic DNA for comprehensive aneuploidy screening.
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Reproductive BioMedicine Online
Introduction: Some mosaic blastocysts are capable of forming viable normal pregnancies. However, ... more Introduction: Some mosaic blastocysts are capable of forming viable normal pregnancies. However, the association between mosaicism in trophectoderm (TE) and the inner cell mass (ICM) is far from being established. Unlike trophectoderm biopsy, non-invasive or minimally invasive preimplantation genetic testing for aneuploidy may better represent the entire blastocyst since cell-free embryonic DNA is most likely released into blastocoel fluid (BF) and spent embryo culture medium (SEM) from both TE and ICM.
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Reproductive BioMedicine Online, 2019
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Human Reproduction
Study question What are the pregnancy and neonatal outcomes of prospective transfer of 565 mosaic... more Study question What are the pregnancy and neonatal outcomes of prospective transfer of 565 mosaic embryos and what are the key determinants influencing the outcome? Summary answer Mosaic (diploid/aneuploid) embryos have a significant developmental potential with good neonatal outcomes allowing personalized management and evidence based prioritization of embryos for transfer. What is known already Since the first report of healthy babies born after mosaic transfer, the gradual accumulation of knowledge on mosaic embryo transfers in the International Registry of Mosaic Embryo Transfers provided the necessary reassurance for clinical management of mosaic embryos. Large and comprehensive data from single centres with consistent clinical genetic counselling and laboratory practices for preimplantation and prenatal testing offer valuable contribution to the current practices. The aim of this study was to evaluate the pregnancy and neonatal outcomes after mosaic embryo transfers and to eva...
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Fertility and Sterility, 2016
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Human Reproduction
Study question Is there a correlation between paternal age and the frequency of chromosomal aberr... more Study question Is there a correlation between paternal age and the frequency of chromosomal aberrations in embryos created by in vitro fertilization (IVF)? Summary answer There is an association between paternal age and segmental aberration rates in embryos derived from young oocyte providers after adjusting for age,sperm,and IVF-cycle characteristics. What is known already Paternal reproductive aging(APA) is less understood than maternal reproductive aging(AMA). Embryo aneuploidy presents one of the most important determinants of transfer cycle success. The association of AMA with increased rate of aneuploidy is well established. The systematic review and meta-analysis published by our group did not identify an association of APA with aneuploidy, based on ∼10,000 pooled embryos, however, the power to detect subchromosomal aberrations was limited by the sensitivity of the PGT-A platform used by each center. Our aim was to study the impact of APA on chromosomal aberrations in a large...
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Journal of Ovarian Research
Background Intracytoplasmic sperm injection (ICSI) has become a common method of fertilization in... more Background Intracytoplasmic sperm injection (ICSI) has become a common method of fertilization in assisted reproduction worldwide. However, there are still gaps in knowledge of the ideal IVF-ICSI workflow including the optimal duration of time between induction of final oocyte maturation, oocyte denudation and ICSI. The aim of this study was to examine outcomes following different workflow protocols in IVF-ICSI procedures in blastocysts that have undergone undisturbed incubation and preimplantation genetic testing for aneuploidy (PGT-A) prior to transfer. Methods Retrospective secondary analysis of 113 patients (179 IVF cycles, 713 embryos), all of whom have gone through IVF-ICSI and PGT-A using undisturbed culture. Predictive test variables were the length of time from: trigger to OPU, OPU to denudation, and denudation to ICSI. Outcome metrics assessed were: maturation, fertilization, blastulation and euploid rates. Generalized Estimated Equations Linear Model was used to examine t...
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Fertility and Sterility
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Papers by Svetlana Madjunkova