Development and clinical application of a preimplantation genetic testing for monogenic disease (PGT-M) for beta thalass
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GENETICS
Development and clinical application of a preimplantation genetic testing for monogenic disease (PGT-M) for beta thalassemia in Vietnam Anh Dao Mai 1 & Gary L. Harton 2 & Vinh Nguyen Quang 1 & Huynh Nguyen Van 1 & Nhung Hoang Thi 1 & Nga Pham Thuy 3 & Thu Hien Le Thi 4 & Duc Nguyen Minh 4 & Quan Tran Quoc 1 Received: 12 August 2020 / Accepted: 5 November 2020 # The Author(s) 2020
Abstract Purpose The 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. Methods A 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. Results Two 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. Conclusions Here 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. Keywords Preimplantation genetic testing for monogenic diseases (PGT-M) . Preimplantation genetic testing for aneuploidy (PGT-A) . Embryo biopsy . Aneuploidy . Beta thalassemia
Introduction * Gary L. Harton [email protected] 1
Genetic Testing Service Joint Stock Company, 249A Thuy Khue street, Tay Ho district, Hanoi, Vietnam
2
PerkinElmer Health Sciences Australia, 40 West Thebarton Rd., Thebarton, SA 5031, Australia
3
Reproductive Health Assistant and Andrology Department, Hanoi Obstetrics &Gynecology Hospital, 929 La Thanh street, Ngoc Khanh ward, Ba Dinh district, Hanoi, Vietnam
4
Andrology and Fertility Hospital of Hanoi, 431 Tam Trinh street, Hoang Mai district, Hanoi, Vietnam
Preimplantation genetic testing for monogenic diseases (PGTM), formerly termed preimplantation genetic diagnosis (PGD), was the first genetic test offered on preimplantation embryos [1] in 1990 with the first babies born in 1991. Generally, the test requires in v
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