ArticleGenes2020
Optimized NGS Approach for Detection of Aneuploidies and Mosaicism in PGT-A and Imbalances in PGT-SR.
Article in Genes, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 2 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
38 citing papers in PubMed, 2 syntheses or guidelines pooled it, 62 citations in OpenAlex.
- Misdiagnosis of different types of aneuploidy in preimplantation genetic testing (PGT): a systematic review and meta-analysis.Archives of gynecology and obstetrics · 2026Pooled it
- A systematic review and meta-analysis of the diagnostic accuracy after preimplantation genetic testing for aneuploidy.PloS one · 2025Pooled it
- Influencing factors and clinical significance of mosaic embryos in preimplantation genetic testing.Journal of assisted reproduction and genetics · 2026Article
- Live birth rates with and without preimplantation genetic testing: a single-center retrospective study.Archives of gynecology and obstetrics · 2025Article
- Live birth outcomes after euploid transfer: autologous vs. donor oocyte embryos in patients aged > 35 years.F&S reports · 2025Article
- Validation of non-invasive preimplantation genetic testing for aneuploidies (niPGT-A) in a Japanese population: experience from seven clinics.Journal of assisted reproduction and genetics · 2025Article
- MAIA platform for routine clinical testing: an artificial intelligence embryo selection tool developed to assist embryologists.Scientific reports · 2025Article
- Assessing the Viability of Segmental Aneuploid Embryos: A Chromosomal Concordance Study of 175 Human Blastocysts.International journal of molecular sciences · 2025Article
- PGT-M as A Family Planning Tool for A Couple in Which The Woman Carries A Novel NCAH Variant and A CYP21A2 Variant also Present in Her Husband: A Case Report.International journal of fertility & sterility · 2025Article
- Developmental potential of zygotes without pronucleus (0PN) and pregnancy outcomes after single euploid blastocyst transfers.Journal of assisted reproduction and genetics · 2025Article
- The future of embryo engineering and fertility research in interdisciplinary collaboration.Frontiers in cell and developmental biology · 2025Review
- Uniparental disomy (UPD) exclusion in embryos following Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR).Journal of assisted reproduction and genetics · 2025Article
- Article
- Incidence of haploidy and triploidy in trophectoderm biopsies of blastocysts derived from normally and abnormally fertilized oocytes.Journal of assisted reproduction and genetics · 2024Article
- Automatic ploidy prediction and quality assessment of human blastocysts using time-lapse imaging.Nature communications · 2024Article
- Basal FSH values are positively associated with aneuploidy incidence in pre-advanced maternal age (AMA) but not in AMA patients.Journal of assisted reproduction and genetics · 2024Article
- Article
- Healthy Live Births after the Transfer of Mosaic Embryos: Self-Correction or PGT-A Overestimation?Genes · 2023Review
- PGT-A mosaicism based on NGS intermediate copy numbers: is it time to stop reporting them?Journal of assisted reproduction and genetics · 2023Article
- Preimplantation Genetic Testing for Genetic Diseases: Limits and Review of Current Literature.Genes · 2023Review
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The detection of chromosomal aneuploidies and mosaicism degree in preimplantation embryos may be essential for achieving pregnancy. The aim of this study was to determine the robustness of diagnosing homogenous and mosaic aneuploidies using a validated algorithm and the minimal resolution for de novo and inherited deletions and duplications (Del/Dup). Two workflows were developed and validated: (a,b) preimplantation genetic testing for uniform whole and segmental aneuploidies, plus mixtures of euploid/aneuploid genomic DNA to develop an algorithm for detecting mosaicism; and (c) preimplantation genetic testing for structural rearrangements for detecting Del/Dup ≥ 6 Mb. Next-generation sequencing (NGS) was performed with automatic library preparation and multiplexing up to 24-96 samples. Specificity and sensitivity for PGT-A were both 100% for whole chromosomes and segmentals. The thresholds stablished for mosaicism were: euploid embryos (<30% aneuploidy), low mosaic (from 30% to <50%), high mosaic (50-70%) or aneuploid (>70%). In the PGT-SR protocol, changes were made to increase the detection level to ≥6 Mb. This is the first study reporting an accurate assessment of semiautomated-NGS protocols using Reproseq on pools of cells. Both protocols allow for the analysis of homogeneous and segmental aneuploidies, different degrees of mosaicism, and small Del/Dup with high sensitivity and specificity.
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Registered trials
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