ArticleScientific reports2025
Extended blastocyst culture improves DNA yield in non-invasive preimplantation genetic testing for aneuploidy but diagnostic specificity remains limited.
Article in Scientific reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Fragmentomic features of cell-free DNA in human spent blastocyst medium and their potential for non-invasive embryo ploidy assessment.Journal of assisted reproduction and genetics · 2026Article
- Epigenetic, environmental, and sex-specific programming of long-term health in Assisted Reproductive Technologies-conceived offspring†.Biology of reproduction · 2026Review
- Comparative study of noninvasive chromosomal screening using blastocyst culture media: frozen-thawed embryos outperform fresh embryos.Frontiers in endocrinology · 2026Article
- Library Concentration After Whole Genome Amplification Improves Interpretation of Spent Culture Medium-Based Noninvasive PGT-A in Vitrified-Warmed Human Blastocysts.Reproductive medicine and biologyArticle
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Non-invasive preimplantation genetic testing for aneuploidy (niPGT-A), which analyzes cell-free DNA (cfDNA) from spent culture media (SCM), has emerged as a proposed alternative to trophectoderm (TE) biopsy in in vitro fertilization (IVF). However, its clinical reliability remains unproven. This prospective paired-sample study compared niPGT-A and TE biopsy in 212 blastocysts from 98 couples undergoing IVF, evaluating diagnostic performance and clinical outcome correlation. All embryos underwent simultaneous niPGT-A and TE biopsy, analyzed using next-generation sequencing, with embryo transfers based solely on TE biopsy results. Extended culture to Day 6 significantly improved the informative rate of niPGT-A (from 69.4 to 97.9%). The overall ploidy concordance between niPGT-A and TE biopsy was 75.9%. niPGT-A classified more embryos as aneuploid (75.3%) than TE biopsy (58.5%), including 33 false positives. While niPGT-A showed high sensitivity (91.6%) for aneuploid detection, its specificity was low (50.7%), and discordant embryos (euploid by TE, aneuploid by niPGT-A) achieved unexpectedly high pregnancy (94%) and live birth (88%) rates. These findings highlight that false-positive classification by niPGT-A may result in the unnecessary exclusion of transferable embryos. Despite its non-invasive appeal, niPGT-A lacks sufficient diagnostic accuracy for clinical use. Further refinement of cfDNA analysis, contamination control, and standardization are needed before niPGT-A can be considered for routine clinical implementation.
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