Development and clinical application of a preimplantation genetic testing for monogenic disease (PGT-M) for beta thalassemia in Vietnam.

Content Provider	Europe PMC
Author	Mai, Anh Dao Harton, Gary L. Quang, Vinh Nguyen Van, Huynh Nguyen Thi, Nhung Hoang Thuy, Nga Pham Le Thi, Thu Hien Minh, Duc Nguyen Quoc, Quan Tran
Abstract	PurposeThe purpose of this research is to study the clinical outcomes using a next-generation sequencing-based protocol allowing for simultaneous testing of mutations in the beta thalassemia (HBB) gene, including single nucleotide polymorphism (SNP) markers for PGT-M along with low-pass whole genome analysis of chromosome aneuploidies for PGT-A.MethodsA combined PGT-M (thalassemia) plus PGT-A system was developed for patients undergoing IVF in Vietnam. Here we developed a system for testing numerous thalassemia mutations plus SNP-based testing for backup mutation analysis and contamination control using next-generation sequencing (NGS). Low -pass next-generation sequencing was used to assess aneuploidy in some of the clinical PGT cases. Patients underwent IVF followed by embryo biopsy at the blastocyst stage for combined PGT-A/M.ResultsTwo cases have completed the entire process including transfer of embryos, while a further nine cases have completed the IVF and PGT-M/A analysis but have not completed embryo transfer. In the two cases with embryo transfer, both patients achieved pregnancy with an unaffected, euploid embryo confirmed through prenatal diagnosis. In the further nine cases, 39 embryos were biopsied and all passed QC for amplification. There were 8 unaffected embryos, 31 carrier embryos, and 11 affected embryos. A subset of 24 embryos also had PGT-A analysis with 22 euploid embryos and 2 aneuploid embryos.ConclusionsHere we report the development and clinical application of a combined PGT-M for HBB and PGT-A for gross chromosome aneuploidies from 11 patients with detailed laboratory findings along with 2 cases that have completed embryo transfer.
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ISSN	10580468
Journal	Journal of Assisted Reproduction and Genetics [J Assist Reprod Genet]
Volume Number	38
DOI	10.1007/s10815-020-02006-y
PubMed Central reference number	PMC7884556
Issue Number	2
PubMed reference number	33216308
e-ISSN	15737330
Language	English
Publisher	Springer US
Publisher Date	2020-11-20
Publisher Place	New York
Access Restriction	Open
Rights License	Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. © The Author(s) 2020
Subject Keyword	Preimplantation genetic testing for monogenic diseases (PGT-M) Preimplantation genetic testing for aneuploidy (PGT-A) Embryo biopsy Aneuploidy Beta thalassemia
Content Type	Text
Resource Type	Article
Subject	Genetics Developmental Biology Embryology Reproductive Medicine Genetics (clinical) Obstetrics and Gynecology