ArticleJournal of assisted reproduction and genetics2019
Karyomapping in preimplantation genetic testing for β-thalassemia combined with HLA matching: a systematic summary.
Article in Journal of assisted reproduction and genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 15 citations in OpenAlex.
- Review
- The Insufficient Number of Informative SNPs in a Preclinical Karyomapping Test for PGT-M Depends on the Reference Selected.Journal of personalized medicine · 2025Article
- Reproductive Choices in Haemoglobinopathies: The Role of Preimplantation Genetic Testing.Genes · 2025Review
- Knowledge, attitude and acceptance regarding bone marrow transplantation in caregivers of beta-thalassemia major patients.Journal of community genetics · 2024Article
- Differences in preimplantation blastocyst chromosomal aberrations between polycystic ovary syndrome women and controls: a multi-center retrospective cohort study.Journal of assisted reproduction and genetics · 2024Article
- An Incidental Detection of a Rare UPD in SNP-Array Based PGT-SR: A Case Report.Reproductive sciences (Thousand Oaks, Calif.) · 2024Article
- [Genetic counseling for hearing loss today].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2024Article
- Mapping of meiotic recombination in human preimplantation blastocysts.G3 (Bethesda, Md.) · 2023Article
- Appropriate whole genome amplification and pathogenic loci detection can improve the accuracy of preimplantation genetic diagnosis for deletional α-thalassemia.Frontiers in endocrinology · 2023Article
- Evolution and Utility of Preimplantation Genetic Testing for Monogenic Disorders in Assisted Reproduction - A Narrative Review.Journal of human reproductive sciencesReview
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
Abstract
purposeTo investigate the validity, accuracy, and clinical outcomes of Karyomapping in preimplantation genetic testing (PGT) for β-thalassemia combined with human leukocyte antigen (HLA) matching.
methodsA total of 128 cycles from January 2014 to December 2017 were identified, and 1205 embryos were biopsied. The case group included 88 cycles using Karyomapping for PGT-HLA, compared with 40 cycles using polymerase chain reaction-short tandem repeat (PCR-STR) as the control group.
resultsThere were significant differences in the HLA matching rate (21.34 vs. 14.37%), the matched transferable embryo rate (9.79 vs. 14.07%), the clinical pregnancy rate (65.08 vs. 41.86%), and the spontaneous miscarriage rate (2.44 vs. 22.22%) between the case and control groups. In the case group, nearly 1/3 (33.37%) of the embryos showed aneuploidy. According to the results of single nucleotide polymorphism (SNP) haplotype analysis, the recombination rates of HBB (hemoglobin subunit beta) and HLA were 11.46% and 5.61% respectively. HLA gene recombination was mostly distributed between HLA-A and HLA-B and the downstream region of HLA-DQB1. In addition, STR analysis could be considered in the case of copy-neutral loss of heterozygosity (LOH) in the region where the HLA gene is located.
conclusionKaryomapping contributes to accurate selection of matched embryos, along with aneuploidy screening. However, STRs assist identification in cases of LOH in the target region.
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