ArticleProceedings of the National Academy of Sciences of the United States of America2017
Mapping allele with resolved carrier status of Robertsonian and reciprocal translocation in human preimplantation embryos.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 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
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 63 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
- Prospective clinical validation of targeted long-read sequencing for preimplantation genetic testing of α-thalassaemia.Reproductive biology and endocrinology : RB&E · 2026Article
- Developing Effective Bioinoculant and Engineering Plant Microbiome for Climate Resilient Agriculture: Lessons Learned and Future Roadmap.Current microbiology · 2026Review
- Identification of a complex chromosomal insertion using the chromosome conformation based karyotyping technique for the implementation of PGT-SR.BMC genomics · 2026Article
- Chromosomal segregation and recombination in human sperm cells from reciprocal translocation carriers.Journal of assisted reproduction and genetics · 2025Article
- Identification of a cryptic unbalanced translocation Der(22)t(12;22)(q24.33;q13.33) in a large Chinese family with Phelan-McDermid syndrome by nanopore sequencing.Scientific reports · 2025Article
- Preimplantation genetic testing for structural rearrangements by genome-wide SNP genotyping and haplotype analysis: a prospective multicenter clinical study.EBioMedicine · 2025Article
- Application and Prospects of Long-Read Sequencers for Preimplantation Genetic Testing for Structural Rearrangements.Methods in molecular biology (Clifton, N.J.) · 2025Review
- Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing.Nature communications · 2024Article
- Nanopore sequencing with T2T-CHM13 for accurate detection and preventing the transmission of structural rearrangements in highly repetitive heterochromatin regions in human embryos.Clinical and translational medicine · 2024Article
- Preimplantation genetic testing in couples with balanced chromosome rearrangement: a four-year period real world retrospective cohort study.BMC pregnancy and childbirth · 2024Article
- Nanopore sequencing for detecting reciprocal translocation carrier status in preimplantation genetic testing.BMC genomics · 2023Article
- Whole Genome Amplification in Preimplantation Genetic Testing in the Era of Massively Parallel Sequencing.International journal of molecular sciences · 2022Review
- A mathematical model for predicting the number of transferable blastocysts in next-generation sequencing-based preimplantation genetic testing.Archives of gynecology and obstetrics · 2022Article
- 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
- Risk Factors Affecting Alternate Segregation in Blastocysts From Preimplantation Genetic Testing Cycles of Autosomal Reciprocal Translocations.Frontiers in genetics · 2022Article
- A comprehensive and universal approach for embryo testing in patients with different genetic disorders.Clinical and translational medicine · 2021Article
- Identifying Balanced Chromosomal Translocations in Human Embryos by Oxford Nanopore Sequencing and Breakpoints Region Analysis.Frontiers in genetics · 2021Article
- 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
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
25 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Reciprocal translocations (RecT) and Robertsonian translocations (RobT) are among the most common chromosomal abnormalities that cause infertility and birth defects. Preimplantation genetic testing for aneuploidy using comprehensive chromosome screening for in vitro fertilization enables embryo selection with balanced chromosomal ploidy; however, it is normally unable to determine whether an embryo is a translocation carrier. Here we report a method named "Mapping Allele with Resolved Carrier Status" (MaReCs), which enables chromosomal ploidy screening and resolution of the translocation carrier status of the same embryo. We performed MaReCs on 108 embryos, of which 96 were from 13 RecT carriers and 12 were from three RobT carriers. Thirteen of the sixteen patients had at least one diploid embryo. We have confirmed the accuracy of our carrier status determination in amniotic fluid karyotyping of seven cases as well as in the live birth we have thus far. Therefore, MaReCs accurately enables the selection of translocation-free embryos from patients carrying chromosomal translocations. We expect MaReCs will help reduce the propagation of RecT/RobT in the human population.
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.