ArticleJournal of assisted reproduction and genetics2016
SNP array-based analyses of unbalanced embryos as a reference to distinguish between balanced translocation carrier and normal blastocysts.
Article in Journal of assisted reproduction and genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 64 citations in OpenAlex.
- Successful birth after preimplantation genetic testing for a couple with two different reciprocal translocations and review of the literature.Reproductive biology and endocrinology : RB&E · 2021Pooled it
- Chromosomal segregation and recombination in human sperm cells from reciprocal translocation carriers.Journal of assisted reproduction and genetics · 2025Article
- Translocation-specific polymerase chain reaction in preimplantation genetic testing for recurrent translocation carrier.Journal of human genetics · 2025Article
- The Identification of Molecular Ploidy Status of Abnormal Pronuclear Zygotes Reveals a Significant Number of Euploid Blastocysts Available for Conception.Biomedicines · 2024Article
- Analysis of Preimplantation and Clinical Outcomes of Two Cases by Oxford Nanopore Sequencing.Reproductive sciences (Thousand Oaks, Calif.) · 2024Article
- Re-Examination of PGT-A Detected Genetic Pathology in Compartments of Human Blastocysts: A Series of 23 Cases.Journal of clinical medicine · 2024Article
- Gene sequencing and result analysis of balanced translocation carriers by third-generation gene sequencing technology.Scientific reports · 2023Article
- Nanopore sequencing for detecting reciprocal translocation carrier status in preimplantation genetic testing.BMC genomics · 2023Article
- Detection of a Cryptic 25 bp Deletion and a 269 Kb Microduplication by Nanopore Sequencing in a Seemingly Balanced Translocation Involving the LMLN and LOC105378102 Genes.Frontiers in genetics · 2022Article
- Identifying Balanced Chromosomal Translocations in Human Embryos by Oxford Nanopore Sequencing and Breakpoints Region Analysis.Frontiers in genetics · 2021Article
- Article
- Complex preimplantation genetic tests for Robertsonian translocation, HLA, and X-linked hyper IgM syndrome caused by a novel mutation of CD40LG gene.Journal of assisted reproduction and genetics · 2020Article
- Review
- Analysis of balanced reciprocal translocations in patients with subfertility using single-molecule optical mapping.Journal of assisted reproduction and genetics · 2020Article
- Preimplantation genetic testing for monogenic diseases: a Brazilian IVF centre experience.JBRA assisted reproduction · 2019Article
- BasePhasing: a highly efficient approach for preimplantation genetic haplotyping in clinical application of balanced translocation carriers.BMC medical genomics · 2019Article
- High-resolution mapping of reciprocal translocation breakpoints using long-read sequencing.MethodsX · 2019Article
- Diagnosis of parental balanced reciprocal translocations by trophectoderm biopsy and comprehensive chromosomal screening.Journal of assisted reproduction and genetics · 2018Article
- The establishment and application of preimplantation genetic haplotyping in embryo diagnosis for reciprocal and Robertsonian translocation carriers.BMC medical genomics · 2017Article
- Mapping allele with resolved carrier status of Robertsonian and reciprocal translocation in human preimplantation embryos.Proceedings of the National Academy of Sciences of the United States of America · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThe purpose of the study is to validate a method that provides the opportunity to distinguish a balanced translocation carrier embryo from a truly normal embryo in parallel with comprehensive chromosome screening (CCS).
methodsA series of translocation carrier couples that underwent IVF with single nucleotide polymorphism (SNP) array-based CCS on 148 embryos were included. Predictions of balanced or normal status of each embryo were made based upon embryonic SNP genotypes. In one case, microdeletion status was used to designate whether embryos were balanced or normal. In 10 additional cases, conventional karyotyping was performed on newborns in order to establish the true genetic status (balanced or normal) of the original transferred embryo. Finally, implantation potential of balanced or normal embryos was compared.
resultsPhasing SNPs using unbalanced embryos allowed accurate prediction of whether transferred embryos were balanced translocation carriers or truly normal in all cases completed to date (100 % concordance with conventional karyotyping of newborns). No difference in implantation potential of balanced or normal embryos was observed.
conclusionsThis study demonstrates the validity of a CCS method capable of distinguishing normal from balanced translocation carrier embryos. The only prerequisite is the availability of parental DNA and an unbalanced IVF embryo, making the method applicable to the majority of carrier couples. In addition, the SNP array platform allows simultaneous CCS for aneuploidy with the same platform and from the same biopsy. Future work will involve prospective predictions to select normal embryos with subsequent karyotyping of the resulting newborns.
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.