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Journal of Assisted Reproduction and Genetics

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01-12-2019 | Preimplantation Genetic Diagnostics | Genetics

Karyomapping in preimplantation genetic testing for β-thalassemia combined with HLA matching: a systematic summary

Authors: Jing Wang, Bao-Min Lu, Rong Li, Jing Guo, Yan Xu, Jia-Fu Pan, Yan-hong Zeng, Can-Quan Zhou, Yan-Wen Xu

Published in: Journal of Assisted Reproduction and Genetics | Issue 12/2019

Abstract

Purpose

To investigate the validity, accuracy, and clinical outcomes of Karyomapping in preimplantation genetic testing (PGT) for β-thalassemia combined with human leukocyte antigen (HLA) matching.

Methods

A 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.

Results

There 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.

Conclusion

Karyomapping 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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Title: Karyomapping in preimplantation genetic testing for β-thalassemia combined with HLA matching: a systematic summary
Authors: Jing Wang
Bao-Min Lu
Rong Li
Jing Guo
Yan Xu
Jia-Fu Pan
Yan-hong Zeng
Can-Quan Zhou
Yan-Wen Xu
Publication date: 01-12-2019
Publisher: Springer US
Keywords: Preimplantation Genetic Diagnostics
Thalassemia
Published in: Journal of Assisted Reproduction and Genetics / Issue 12/2019
Print ISSN: 1058-0468
Electronic ISSN: 1573-7330
DOI: https://doi.org/10.1007/s10815-019-01595-7

At a glance: The STEP trials

Springer Medicine

Karyomapping in preimplantation genetic testing for β-thalassemia combined with HLA matching: a systematic summary

Abstract

Purpose

Methods

Results

Conclusion

At a glance: The STEP trials

Springer Medicine

Abstract

Purpose

Methods

Results

Conclusion

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