On the origins and fate of chromosomal abnormalities in human preimplantation embryos: an unsolved riddle

M Regin, C Spits, K Sermon - Molecular human reproduction, 2022 - academic.oup.com
About 8 out of 10 human embryos obtained in vitro harbour chromosomal abnormalities of
either meiotic or mitotic origin. Abnormalities of mitotic origin lead to chromosomal …

Single-cell analysis of human embryos reveals diverse patterns of aneuploidy and mosaicism

MR Starostik, OA Sosina, RC McCoy - Genome research, 2020 - genome.cshlp.org
Less than half of human zygotes survive to birth, primarily due to aneuploidies of meiotic or
mitotic origin. Mitotic errors generate chromosomal mosaicism, defined by multiple cell …

[HTML][HTML] An update on non-invasive approaches for genetic testing of the preimplantation embryo

G Kakourou, T Mamas, C Vrettou… - Current …, 2022 - ncbi.nlm.nih.gov
Abstract Preimplantation Genetic Testing (PGT) aims to reduce the chance of an affected
pregnancy or improve success in an assisted reproduction cycle. Since the first established …

[HTML][HTML] Is there a correlation between paternal age and aneuploidy rate? An analysis of 3,118 embryos derived from young egg donors

M Dviri, S Madjunkova, A Koziarz, R Antes… - Fertility and …, 2020 - Elsevier
Objective To investigate a possible correlation between chromosomal aberrations and
paternal age, analyzing embryos derived from young oocyte donors, with available …

Minimally invasive cell-free human embryo aneuploidy testing (miPGT-A) utilizing combined spent embryo culture medium and blastocoel fluid–towards development …

V Kuznyetsov, S Madjunkova, R Abramov, R Antes… - Scientific reports, 2020 - nature.com
Preimplantation genetic testing for aneuploidies (PGT-A) using trophectoderm (TE) biopsy
samples is labour intensive, invasive, and subject to sampling bias. In this study, we report …

High concordance in preimplantation genetic testing for aneuploidy between automatic identification via Ion S5 and manual identification via Miseq

TH Chuang, ZH Wu, CS Kuan, MJ Lee, CL Hsieh… - Scientific Reports, 2021 - nature.com
Abstract The Ion S5 (Thermo Fisher Scientific) and Miseq (Illumina) NGS systems are both
widely used in the clinical laboratories conducting PGT-A. Each system employs discrepant …

A multi-omics genome-and-transcriptome single-cell atlas of human preimplantation embryogenesis reveals the cellular and molecular impact of chromosome …

EF Gallardo, A Sifrim, J Chappell, J Demeulemeester… - Biorxiv, 2023 - biorxiv.org
The frequent acquisition of genomic abnormalities in human preimplantation embryos is a
leading cause of pregnancy loss, but does not necessarily prohibit healthy offspring …

Stem cell-based trophoblast models to unravel the genetic causes of human miscarriages

TV Nikitina, IN Lebedev - Cells, 2022 - mdpi.com
Miscarriage affects approximately 15% of clinically recognized pregnancies, and 1–3% of
couples experience pregnancy loss recurrently. Approximately 50–60% of miscarriages …

Preimplantation genetic testing: single-cell technologies at the forefront of PGT and embryo research

O Tšuiko, EF Gallardo, T Voet, JR Vermeesch - Reproduction, 2020 - rep.bioscientifica.com
While chromosomal mosaicism in the embryo was observed already in the '90s using both
karyotyping and FISH technologies, the full extent of this phenomenon and the overall …

Complex aneuploidy triggers autophagy and p53-mediated apoptosis and impairs the second lineage segregation in human preimplantation embryos

M Regin, Y Lei, EC De Deckersberg, Y Guns… - bioRxiv, 2022 - biorxiv.org
About 70% of human cleavage stage embryos show chromosomal mosaicism, falling to 20%
in blastocysts. Chromosomally mosaic human blastocysts can implant and lead to healthy …