ArticleThe Journal of clinical investigation2021
DNA methylome reveals cellular origin of cell-free DNA in spent medium of human preimplantation embryos.
Article in The Journal of clinical investigation, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
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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
31 citing papers in PubMed, 1 synthesis or guideline pooled it.
- The diagnostic accuracy of preimplantation genetic testing (PGT) in assessing the genetic status of embryos: a systematic review and meta-analysis.Reproductive biology and endocrinology : RB&E · 2025Pooled it
- Embryo selection by non-invasive preimplantation genetic testing for aneuploidy in women of advanced maternal age: a randomized, clinical trial.Nature communications · 2026Trial
- NICE: A Two-Step Non-Invasive Framework for Embryo cfDNA Read Enrichment and Quality Assessment.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Technological Advances in Molecular Diagnostic Methods for Hereditary Diseases in Preconception and Prenatal Settings.Current issues in molecular biology · 2026Review
- Article
- Observational
- Non-disruptive in vitro monitoring of cellular states with cell-free DNA methylation.Genome biology · 2026Article
- Cell-free DNA in female infertility: from pathological mechanisms to clinical biomarkers.Journal of ovarian research · 2026Review
- Optimisation of Laser-Assisted Biopsy Parameters in Bovine Embryos.Reproduction in domestic animals = Zuchthygiene · 2026Article
- Genetic Deconvolution of Embryonic and Maternal Cell-Free DNA in Spent Culture Medium of Human Preimplantation Embryo Through Deep Learning.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- The Role of Preconception Parental Health on Embryo Quality-Preliminary Results of a Prospective Study Using Non-Invasive Preimplantation Genetic Testing for Aneuploidy.Biomolecules · 2025Article
- Evaluating non-invasive Preimplantation Genetic Testing for Aneuploidy (niPGT-A) from spent culture medium: prolonged embryo culture to day 6 increases informativity without negatively impacting quality and live birth rates.Journal of assisted reproduction and genetics · 2025Article
- Non-Invasive Preimplantation Genetic Testing.Genes · 2025Review
- A computational DNA methylation method to remove contaminated DNA from spent embryo culture medium for noninvasive preimplantation genetic testing.EBioMedicine · 2025Article
- Clinical outcomes of frozen-thawed blastocysts with twice noninvasive chromosome screenings.Frontiers in endocrinology · 2025Article
- Comparison of Non-Invasive and Minimally Invasive Preimplantation Genetic Testing for Aneuploidy Using Samples Derived from the Same Embryo Culture.Journal of clinical medicine · 2024Article
- Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing.Nature communications · 2024Article
- Optimizing non-invasive preimplantation genetic testing: investigating culture conditions, sample collection, and IVF treatment for improved non-invasive PGT-A results.Journal of assisted reproduction and genetics · 2024Article
- Influence of the number of washings for embryos on non-invasive preimplantation chromosome screening results.Frontiers in endocrinology · 2024Article
- Conventional IVF is feasible in preimplantation genetic testing for aneuploidy.Journal of assisted reproduction and genetics · 2023Article
Corrections and comments
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The discovery of embryonic cell-free DNA (cfDNA) in spent embryo culture media (SECM) has brought hope for noninvasive preimplantation genetic testing. However, the cellular origins of SECM cfDNA are not sufficiently understood, and methods for determining maternal DNA contamination are limited. Here, we performed whole-genome DNA methylation sequencing for SECM cfDNA. Our results demonstrated that SECM cfDNA was derived from blastocysts, cumulus cells, and polar bodies. We identified the cumulus-specific differentially methylated regions (DMRs) and oocyte/polar body-specific DMRs, and established an algorithm for deducing the cumulus, polar body, and net maternal DNA contamination ratios in SECM. We showed that DNA methylation sequencing accurately detected chromosome aneuploidy in SECM and distinguished SECM samples with low and high false negative rates and gender discordance rates, after integrating the origin analysis. Our work provides insights into the characterization of embryonic DNA in SECM and provides a perspective for noninvasive preimplantation genetic testing in reproductive medicine.
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