Confined placental mosaicism and the association with pregnancy outcome and fetal growth: a review of the literature

GM Eggenhuizen, A Go, MPH Koster… - Human …, 2021 - academic.oup.com
BACKGROUND Chromosomal mosaicism can be detected in different stages of early life: in
cleavage stage embryos, in blastocysts and biopsied cells from blastocysts during …

Genetic mechanisms of fertilization failure and early embryonic arrest: a comprehensive review

Y Wei, J Wang, R Qu, W Zhang, Y Tan… - Human …, 2024 - academic.oup.com
BACKGROUND Infertility and pregnancy loss are longstanding problems. Successful
fertilization and high-quality embryos are prerequisites for an ongoing pregnancy. Studies …

Extensive phylogenies of human development inferred from somatic mutations

THH Coorens, L Moore, PS Robinson, R Sanghvi… - Nature, 2021 - nature.com
Starting from the zygote, all cells in the human body continuously acquire mutations.
Mutations shared between different cells imply a common progenitor and are thus naturally …

Human embryo implantation

J Muter, VJ Lynch, RC McCoy, JJ Brosens - Development, 2023 - journals.biologists.com
Embryo implantation in humans is interstitial, meaning the entire conceptus embeds in the
endometrium before the placental trophoblast invades beyond the uterine mucosa into the …

Isoform-resolved transcriptome of the human preimplantation embryo

D Torre, NJ Francoeur, Y Kalma, I Gross Carmel… - Nature …, 2023 - nature.com
Human preimplantation development involves extensive remodeling of RNA expression and
splicing. However, its transcriptome has been compiled using short-read sequencing data …

Single-cell DNA sequencing reveals a high incidence of chromosomal abnormalities in human blastocysts

EA Chavli, SJ Klaasen, D Van Opstal… - The Journal of …, 2024 - Am Soc Clin Investig
Aneuploidy, a deviation from the normal chromosome copy number, is common in human
embryos and is considered a primary cause of implantation failure and early pregnancy loss …

[HTML][HTML] Maternal selection of human embryos in early gestation: insights from recurrent miscarriage

JJ Brosens, PR Bennett, VM Abrahams… - Seminars in cell & …, 2022 - Elsevier
Compared to most mammals, human pregnancy is unusual in that it involves chromosomally
diverse embryos, cyclical breakdown and regeneration of the uterine mucosa, and intimate …

epiAneufinder identifies copy number alterations from single-cell ATAC-seq data

A Ramakrishnan, A Symeonidi, P Hanel… - Nature …, 2023 - nature.com
Single-cell open chromatin profiling via scATAC-seq has become a mainstream
measurement of open chromatin in single-cells. Here we present epiAneufinder, an …

The human embryonic genome is karyotypically complex, with chromosomally abnormal cells preferentially located away from the developing fetus

DK Griffin, PR Brezina, K Tobler, Y Zhao… - Human …, 2023 - academic.oup.com
STUDY QUESTION Are chromosome abnormalities detected at Day 3 post-fertilization
predominantly retained in structures of the blastocyst other than the inner cell mass (ICM) …

IVF outcomes of embryos with abnormal PGT-A biopsy previously refused transfer: a prospective cohort study

DH Barad, DF Albertini, E Molinari… - Human …, 2022 - academic.oup.com
STUDY QUESTION What are the outcomes for patients who choose to move embryos
diagnosed as abnormal by preimplantation genetic testing for aneuploidy (PGT-A) to a new …