Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss

R Essers, IN Lebedev, A Kurg, EA Fonova… - Nature Medicine, 2023 - nature.com
Pregnancy loss is often caused by chromosomal abnormalities of the conceptus. The
prevalence of these abnormalities and the allocation of (ab) normal cells in embryonic and …

Chromosome instability is common in human cleavage-stage embryos

E Vanneste, T Voet, C Le Caignec, M Ampe… - Nature medicine, 2009 - nature.com
Chromosome instability is a hallmark of tumorigenesis. This study establishes that
chromosome instability is also common during early human embryogenesis. A new array …

In vitro fertilization does not increase the incidence of de novo copy number alterations in fetal and placental lineages

M Zamani Esteki, T Viltrop, O Tšuiko, A Tiirats, M Koel… - Nature medicine, 2019 - nature.com
Although chromosomal instability (CIN) is a common phenomenon in cleavage-stage
embryogenesis following in vitro fertilization (IVF),–, its rate in naturally conceived human …

The genetic architecture of sporadic and multiple consecutive miscarriage

T Laisk, ALG Soares, T Ferreira, JN Painter… - Nature …, 2020 - nature.com
Miscarriage is a common, complex trait affecting~ 15% of clinically confirmed pregnancies.
Here we present the results of large-scale genetic association analyses with 69,054 cases …

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

AB Byrne, P Arts, TT Ha, KS Kassahn, LS Pais… - Nature Medicine, 2023 - nature.com
Pregnancy loss and perinatal death are devastating events for families. We assessed
'genomic autopsy'as an adjunct to standard autopsy for 200 families who had experienced …

Inherent mosaicism and extensive mutation of human placentas

THH Coorens, TRW Oliver, R Sanghvi, U Sovio… - Nature, 2021 - nature.com
Placentas can exhibit chromosomal aberrations that are absent from the fetus. The basis of
this genetic segregation, which is known as confined placental mosaicism, remains …

Haplotyping-based preimplantation genetic testing reveals parent-of-origin specific mechanisms of aneuploidy formation

O Tšuiko, M Vanneste, C Melotte, J Ding… - NPJ genomic …, 2021 - nature.com
Chromosome instability is inherent to human IVF embryos, but the full spectrum and
developmental fate of chromosome anomalies remain uncharacterized. Using haplotyping …

Somatic mutations reveal asymmetric cellular dynamics in the early human embryo

YS Ju, I Martincorena, M Gerstung, M Petljak… - Nature, 2017 - nature.com
Somatic cells acquire mutations throughout the course of an individual's life. Mutations
occurring early in embryogenesis are often present in a substantial proportion of, but not all …

Placentation defects are highly prevalent in embryonic lethal mouse mutants

V Perez-Garcia, E Fineberg, R Wilson, A Murray… - Nature, 2018 - nature.com
Large-scale phenotyping efforts have demonstrated that approximately 25–30% of mouse
gene knockouts cause intrauterine lethality. Analysis of these mutants has largely focused …

Evidence of selection against complex mitotic-origin aneuploidy during preimplantation development

RC McCoy, ZP Demko, A Ryan, M Banjevic, M Hill… - PLoS …, 2015 - journals.plos.org
Whole-chromosome imbalances affect over half of early human embryos and are the
leading cause of pregnancy loss. While these errors frequently arise in oocyte meiosis …