Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Gain of heterozygosity: an embryo-only, single-nucleotide polymorphism-based method to identify meiotic trisomies in preimplantation genetic testing for aneuploidy.

Reproductive biomedicine online - 1 Jul 2026

Hornak Miroslav, Brozek Radim, Musilova Petra, Navratil Rostislav, Kubicek David, Travnik Pavel, Vesela Katerina

Abstract excerpt

RESEARCH QUESTION: Can gain of heterozygosity (GOH) measured from embryo single- nucleotide polymorphism (SNP) data reliably identify meiotic trisomies during PGT-A without parental DNA samples? DESIGN: Retrospective single-centre laboratory study using de-identified trophectoderm biopsy data from a combined monogenic disorder and aneuploidy testing programme. After whole-genome amplification and SNP-array...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aneuploidy
Share to Genetic Testing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to Meiosis

Share to Polymorphism, Single Nucleotide

Share to Pregnancy

Share to Preimplantation Diagnosis

Share to Trisomy

Source

Identifiers

PMID: 42134026
DOI: 10.1016/j.rbmo.2026.105704

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Gain of heterozygosity: an embryo-only, single-nucleotide polymorphism-based method to identify meiotic trisomies in preimplantation genetic testing for aneuploidy.PMID 42134026Read ↗

Aligning genotyping and copy number data in single trophectoderm biopsies for aneuploidy prediction: uncovering incomplete concordanceSemantic proximity Read ↗

Incidence and origin of meiotic whole and segmental chromosomal aneuploidies detected by karyomappingSemantic proximity Read ↗

Combined SNP parental haplotyping and intensity analysis identifies meiotic and mitotic aneuploidies and frequent segmental aneuploidies in preimplantation human embryosSemantic proximity Read ↗

Haplotyping-based preimplantation genetic testing reveals parent-of-origin specific mechanisms of aneuploidy formationSemantic proximity Read ↗

Multi-centre evaluation of a comprehensive preimplantation genetic test through haplotyping-by-sequencingSemantic proximity Read ↗

Segmental aneuploidy in human embryos is frequently mosaic with evidence of meiotic origin: insights from trophectoderm and inner cell mass analyses.Semantic proximity Read ↗

Copy number analysis of meiotic and postzygotic mitotic aneuploidies in trophectoderm cells biopsied at the blastocyst stage and arrested embryosSemantic proximity Read ↗

Preclinical validation of a targeted next generation sequencing-based comprehensive chromosome screening methodology in human blastocystsSemantic proximity Read ↗

Current quantitative methodologies for preimplantation genetic testing frequently misclassify meiotic aneuploidies as mosaicSemantic proximity Read ↗

Identifying parental and cell-division origins of aneuploidy in the human blastocystSemantic proximity Read ↗

GENType: all-in-one preimplantation genetic testing by pedigree haplotyping and copy number profiling suitable for third-party reproductionSemantic proximity Read ↗

Extended in vitro culture of human embryos demonstrates the complex nature of diagnosing chromosomal mosaicism from a single trophectoderm biopsySemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.