{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["112(11)"],"submitter":["Picchetta L"],"pubmed_abstract":["Triploid and haploid conceptions are not viable and are a common occurrence in humans, where they account for 10% of all pregnancy losses. Despite the parent of origin being important in the etiology of the pregnancy, our knowledge of their causes is limited, especially at the point of conception. Using a dataset of 96,660 biopsies and a validation dataset of 44,324 from human blastocyst embryos generated by intracytoplasmic sperm injection, we estimate that 1.1% of human conceptions (n = 1,063) contain extra or missing chromosome sets in zygotes. In our cohort of intracytoplasmic-sperm-injection-derived embryos, where the risk of polyspermy is inherently lower compared to natural conception, we identify for the first time a maternal age effect, with a 1.046-per-year increased risk in trip"],"journal":["American journal of human genetics"],"pagination":["2665-2678"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12808983"],"repository":["biostudies-literature"],"pubmed_title":["Maternal age and genome-wide failure of meiotic recombination are associated with triploid conceptions in humans."],"pmcid":["PMC12808983"],"pubmed_authors":["Garcia-Velasco JA","Jobanputra V","Paraboschi EM","Carmi S","Mounts E","Hoffmann ER","Picchetta L","Escriba Perez MJ","Zhan Y","Ubaldi FM","Gill P","Capalbo A","Molinaro T","Ottolini CS","Rienzi LF","Babariya D","Tao X","Vallejo CM","Mulas F","Whitehead C","Pellicer A"],"additional_accession":[]},"is_claimable":false,"name":"Maternal age and genome-wide failure of meiotic recombination are associated with triploid conceptions in humans.","description":"Triploid and haploid conceptions are not viable and are a common occurrence in humans, where they account for 10% of all pregnancy losses. Despite the parent of origin being important in the etiology of the pregnancy, our knowledge of their causes is limited, especially at the point of conception. Using a dataset of 96,660 biopsies and a validation dataset of 44,324 from human blastocyst embryos generated by intracytoplasmic sperm injection, we estimate that 1.1% of human conceptions (n = 1,063) contain extra or missing chromosome sets in zygotes. In our cohort of intracytoplasmic-sperm-injection-derived embryos, where the risk of polyspermy is inherently lower compared to natural conception, we identify for the first time a maternal age effect, with a 1.046-per-year increased risk in trip","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Nov","modification":"2026-06-12T05:05:13.976Z","creation":"2026-06-12T03:08:06.252Z"},"accession":"S-EPMC12808983","cross_references":{"pubmed":["41092908"],"doi":["10.1016/j.ajhg.2025.09.014"]}}