ArticleProceedings of the National Academy of Sciences of the United States of America2016
Noninvasive chromosome screening of human embryos by genome sequencing of embryo culture medium for in vitro fertilization.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 3 registered trials, which are not on this map. Cited by 106 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Non-invasive Preimplantation Genetic Testing for Aneuploidies (niPGT-A) - Evaluation of the Analysis of Cell-free DNA in Spent Culture Medium
Clinical Application of Non-invasive Preimplantation Genetic Testing for Aneuploidies
A Randomized Double Blind Controlled Trial of Non-invasive Preimplantation Genetic Testing for Aneuploidy in Women With Recurrent Pregnancy Loss
Who cites it
106 citing papers in PubMed, 2 syntheses or guidelines pooled it, 279 citations in OpenAlex.
- 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
- Evaluation of non-invasive gene detection in preimplantation embryos: a systematic review and meta-analysis.Journal of assisted reproduction and genetics · 2023Pooled it
- Embryo selection by non-invasive preimplantation genetic testing for aneuploidy in women of advanced maternal age: a randomized, clinical trial.Nature communications · 2026Trial
- Effect of endometrial injury during menstruation on clinical outcomes in frozen-thawed embryo transfer cycles: A randomized control trial.The journal of obstetrics and gynaecology research · 2020Trial
- "Old and new" frontiers in embryo viability assessment: current practices and introduction of emerging approaches.Biology of reproduction · 2026Review
- 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
- Liquid biopsy: current applications and future directions.Molecular biomedicine · 2026Review
- Article
- Observational
- Application of non-invasive preimplantation genetic screening for aneuploidy through spent embryo culture media analysis at 48 and 54 hours after embryo cleavage.British journal of biomedical science · 2026Article
- Comparative study of noninvasive chromosomal screening using blastocyst culture media: frozen-thawed embryos outperform fresh embryos.Frontiers in endocrinology · 2026Article
- Clinical and morphological correlates of embryonic mosaicism: a retrospective cohort study of 10,469 blastocysts in PGT-A cycles.Frontiers in endocrinology · 2026Article
- Review
- 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
- Non-Invasive Preimplantation Genetic Testing: Cell-Free DNA Detection in Embryo Culture Media Using a Plasmonic Biosensor.Analytical chemistry · 2025Article
- Evaluation of the Effectiveness and Accuracy of Non-Invasive Preimplantation Genetic Testing (niPGT) Compared to Invasive Embryo Biopsy.Biomedicines · 2025Review
- Noninvasive Biomarkers of Human Embryo Developmental Potential.International journal of molecular sciences · 2025Review
- 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
- Noninvasive preimplantation genetic testing for aneuploidy using blastocyst spent culture medium may serve as a backup of trophectoderm biopsy in conventional preimplantation genetic testing.BMC medical genomics · 2025Article
46 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
17 authors at 7 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Preimplantation genetic screening (PGS) is widely used to select in vitro-fertilized embryos free of chromosomal abnormalities and to improve the clinical outcome of in vitro fertilization (IVF). A disadvantage of PGS is that it requires biopsy of the preimplantation human embryo, which can limit the clinical applicability of PGS due to the invasiveness and complexity of the process. Here, we present and validate a noninvasive chromosome screening (NICS) method based on sequencing the genomic DNA secreted into the culture medium from the human blastocyst. By using multiple annealing and looping-based amplification cycles (MALBAC) for whole-genome amplification (WGA), we performed next-generation sequencing (NGS) on the spent culture medium used to culture human blastocysts (n = 42) and obtained the ploidy information of all 24 chromosomes. We validated these results by comparing each with their corresponding whole donated embryo and obtained a high correlation for identification of chromosomal abnormalities (sensitivity, 0.882, and specificity, 0.840). With this validated NICS method, we performed chromosome screening on IVF embryos from seven couples with balanced translocation, azoospermia, or recurrent pregnancy loss. Six of them achieved successful clinical pregnancies, and five have already achieved healthy live births thus far. The NICS method avoids the need for embryo biopsy and therefore substantially increases the safety of its use. The method has the potential of much wider chromosome screening applicability in clinical IVF, due to its high accuracy and noninvasiveness.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.