ArticleJournal of assisted reproduction and genetics2016
Clinical application of next-generation sequencing in preimplantation genetic diagnosis cycles for Robertsonian and reciprocal translocations.
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 19 papers.
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Who cites it
19 citing papers in PubMed.
- Article
- Case report: A reciprocal translocation-free and pathogenicFrontiers in genetics · 2023Article
- Exploration of the interchromosomal effects in preimplantation genetic testing for structural rearrangements based on next-generation sequencing.Molecular genetics & genomic medicine · 2022Article
- Article
- A mathematical model for predicting the number of transferable blastocysts in next-generation sequencing-based preimplantation genetic testing.Archives of gynecology and obstetrics · 2022Article
- The Relationship between Human Embryo Parameters and De Novo Chromosomal Abnormalities in Preimplantation Genetic Testing Cycles.International journal of endocrinology · 2022Article
- Reproductive outcomes in individuals with chromosomal reciprocal translocations.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Article
- Improved clinical outcomes of preimplantation genetic testing for aneuploidy using MALBAC-NGS compared with MDA-SNP array.BMC pregnancy and childbirth · 2020Article
- Novel PGD strategy based on single sperm linkage analysis for carriers of single gene pathogenic variant and chromosome reciprocal translocation.Journal of assisted reproduction and genetics · 2020Article
- Analysis of balanced reciprocal translocations in patients with subfertility using single-molecule optical mapping.Journal of assisted reproduction and genetics · 2020Article
- The impact of balanced reciprocal translocation - 46,XX,t(7;17) (p13;q24) probably involving the SOX9 gene in the in vitro fertilization with own oocytes evaluated by preimplantation genetic testing or donated oocytes.JBRA assisted reproduction · 2019Article
- Preimplantation genetic diagnosis and screening (PGD/S) using a semiconductor sequencing platform.Human genomics · 2019Article
- Next Generation Sequencing (NGS) in chromosome translocation 46, XX, t (9; X) (q22; q28) - a case report.JBRA assisted reproduction · 2018Article
- Systematic assessment of the performance of whole-genome amplification for SNP/CNV detection and β-thalassemia genotyping.Journal of human genetics · 2018Article
- Prediction of a rare chromosomal aberration simultaneously with next generation sequencing-based comprehensive chromosome screening in human preimplantation embryos for recurrent pregnancy loss.Journal of assisted reproduction and genetics · 2018Article
- Evaluation of comprehensive chromosome screening platforms for the detection of mosaic segmental aneuploidy.Journal of assisted reproduction and genetics · 2017Article
- Number of blastocysts biopsied as a predictive indicator to obtain at least one normal/balanced embryo following preimplantation genetic diagnosis with single nucleotide polymorphism microarray in translocation cases.Journal of assisted reproduction and genetics · 2017Article
- Preimplantation Genetic Testing for Couples with Balanced Chromosomal Rearrangements.Journal of reproduction & infertilityArticle
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Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThe purpose of this study was to apply next-generation sequencing (NGS) technology to identify chromosomally normal embryos for transfer in preimplantation genetic diagnosis (PGD) cycles for translocations.
methodsA total of 21 translocation couples with a history of infertility and repeated miscarriage presented at our PGD clinic for 24-chromosome embryo testing using copy number variation sequencing (CNV-Seq).
resultsTesting of 98 embryo samples identified 68 aneuploid (69.4 %) and 30 (30.6 %) euploid embryos. Among the aneuploid embryos, the most common abnormalities were segmental translocation imbalances, followed by whole autosomal trisomies and monosomies, segmental imbalances of non-translocation chromosomes, and mosaicism. In all unbalanced embryos resulting from reciprocal translocations, CNV-Seq precisely identified both segmental imbalances, extending from the predicted breakpoints to the chromosome termini. From the 21 PGD cycles, eight patients had all abnormal embryos and 13 patients had at least one normal/balanced and euploid embryo available for transfer. In nine intrauterine transfer cycles, seven healthy babies have been born. In four of the seven children tested at 18 weeks gestation, the karyotypes matched with the original PGD results.
conclusionIn clinical PGD translocation cycles, CNV-Seq displayed the hallmarks of a comprehensive diagnostic technology for high-resolution 24-chromosome testing of embryos, capable of identifying true euploid embryos for transfer.
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