ArticleMolecular cytogenetics2019
Analysis of meiotic segregation modes in biopsied blastocysts from preimplantation genetic testing cycles of reciprocal translocations.
Article in Molecular cytogenetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 22 citations in OpenAlex.
- Complex chromosomal rearrangements induce embryonic chromosomal imbalance and significantly compromise reproductive outcomes.Contraception and reproductive medicine · 2026Article
- Chromosomal segregation and recombination in human sperm cells from reciprocal translocation carriers.Journal of assisted reproduction and genetics · 2025Article
- Partial Trisomy of Chromosome 9 Inherited by Adjacent Segregation 2 of a Balanced Reciprocal Translocation in the Mother: Rare Mechanism in Chromosomal Abnormalities.Balkan journal of medical genetics : BJMG · 2025Article
- Article
- Preimplantation genetic testing using comprehensive genomic copy number analysis is beneficial for balanced translocation carriers.Journal of human genetics · 2024Article
- Preimplantation genetic testing for complex chromosomal rearrangements: clinical outcomes and potential risk factors.Frontiers in genetics · 2024Article
- Effects of chromosomal translocation characteristics on fertilization and blastocyst development - a retrospective cohort study.BMC medical genomics · 2023Article
- Risk Factors Affecting Alternate Segregation in Blastocysts From Preimplantation Genetic Testing Cycles of Autosomal Reciprocal Translocations.Frontiers in genetics · 2022Article
- One healthy live birth after preimplantation genetic testing of a cryptic balanced translocation (9;13) in a family with cerebral palsy and glaucoma: a case report.BMC medical genomics · 2021Article
- Article
- Meiotic Heterogeneity of Trivalent Structure and Interchromosomal Effect in Blastocysts With Robertsonian Translocations.Frontiers in genetics · 2021Article
- A Rapid NGS-Based Preimplantation Genetic Testing for Chromosomal Abnormalities in Day-3 Blastomere Biopsy Allows Embryo Transfer Within the Same Treatment Cycle.Frontiers in genetics · 2021Article
- Analysis of clinical outcomes and meiotic segregation modes following preimplantation genetic testing for structural rearrangements using aCGH/NGS in couples with balanced chromosome rearrangement.Reproductive medicine and biologyArticle
- Successful Live Birth Following PGT-SR in a Couple Who Were Both Carriers of Balanced Reciprocal Translocations Identified During Recurrent Pregnancy Loss Workup: A Case Report.Reproductive medicine and biologyArticle
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo analyse the meiotic segregation modes of chromosomal structural rearrangements (PGT-SR) of reciprocal translocation in biopsied blastocysts from preimplantation genetic testing and to investigate whether any features of reciprocal translocation, such as carrier gender or the presence of acrocentric chromosomes or terminal breakpoints, affect meiotic segregation modes.
methodsComprehensive chromosomal screening was performed by next generation sequencing (NGS) on 378 biopsied blastocysts from 102 PGD cycles of 89 reciprocal translocation carriers. The segregation modes of a quadrivalent in 378 blastocysts were analysed according to the carrier's gender, chromosome type and the location of chromosome breakpoints.
resultsThe results showed that 122 out of 378 blastocysts (32.3%) were normal or balanced, 209 (55.3%) were translocated chromosomal abnormalities, and 47 (12.4%) were abnormalities of non-translocated chromosomes. The proportion of translocated chromosomal abnormalities in translocations without acrocentric chromosomes was significantly higher than that in blastocysts from carriers with acrocentric chromosomes (14.8% versus 5.9%,
conclusionsThis study indicates that the segregation modes in blastocysts were affected by the presence of acrocentric chromosomes and terminal breakpoints, but not by the carrier's sex. Our data may be useful for predicting the segregation pattern of a reciprocal translocation and could support genetic counselling for balanced translocation carriers for PGT cycles using blastocyst biopsy.
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