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Journal of Assisted Reproduction and Genetics

Published in:

05-04-2024 | Preimplantation Genetic Diagnostics | Genetics

PGT-M for spinocerebellar ataxia type 1: development of a STR panel and a report of two clinical cases

Authors: Elena V. Soloveva, Maria M. Skleimova, Larisa I. Minaycheva, Anna F. Garaeva, Daria I. Zhigalina, Egor O. Churkin, Yulia V. Okkel, Oksana S. Timofeeva, Ilya A. Petrov, Gulnara N. Seitova, Igor N. Lebedev, Vadim A. Stepanov

Published in: Journal of Assisted Reproduction and Genetics | Issue 5/2024

Abstract

Purpose

To present the developed preimplantation genetic testing (PGT) for spinocerebellar ataxia type 1 (SCA1) and the outcomes of IVF with PGT.

Methods

PGT was performed for two unrelated couples from the Republic of Sakha (Yakutia) with the risk of SCA1 in one spouse. We have developed a system for PGT of a monogenic disease (PGT-M) for SCA1, which includes the analysis of a panel of 11 polymorphic STR markers linked to the ATXN1 gene and a pathogenic variant of the ATXN1 gene using nested PCR and fragment analysis. IVF/ICSI programs were performed according to standard protocols. Multiple displacement amplification (MDA) was used for whole genome amplification (WGA) and array comparative genomic hybridization (aCGH) for aneuploidy testing (PGT-A).

Results

Eight STRs were informative for the first couple and ten for the second. Similarity of the haplotypes carrying pathogenic variants of the ATXN1 gene was noted. In the first case, during IVF/ICSI-PGT, three embryos reached the blastocyst stage and were biopsied. One embryo was diagnosed as normal by maternal STR haplotype and the ATXN1 allele. PGT-A revealed euploidy. The embryo transfer resulted in a singleton pregnancy, and a healthy boy was born. Postnatal diagnosis confirmed normal ATXN1. In the second case, two blastocysts were biopsied. Both were diagnosed as normal by PGT-M, but PGT-A revealed aneuploidy.

Conclusion

Birth of a healthy child after PGT for SCA1 was the first case of successful preimplantation prevention of SCA1 for the Yakut couple and the first case of successful PGT for SCA1 in Russia.

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Title: PGT-M for spinocerebellar ataxia type 1: development of a STR panel and a report of two clinical cases
Authors: Elena V. Soloveva
Maria M. Skleimova
Larisa I. Minaycheva
Anna F. Garaeva
Daria I. Zhigalina
Egor O. Churkin
Yulia V. Okkel
Oksana S. Timofeeva
Ilya A. Petrov
Gulnara N. Seitova
Igor N. Lebedev
Vadim A. Stepanov
Publication date: 05-04-2024
Publisher: Springer US
Keywords: Preimplantation Genetic Diagnostics
Spinocerebellar Ataxia
ICSI
Published in: Journal of Assisted Reproduction and Genetics / Issue 5/2024
Print ISSN: 1058-0468
Electronic ISSN: 1573-7330
DOI: https://doi.org/10.1007/s10815-024-03105-w

Keynote webinar | Spotlight on medication adherence

Springer Medicine

PGT-M for spinocerebellar ataxia type 1: development of a STR panel and a report of two clinical cases

Abstract

Purpose

Methods

Results

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Purpose

Methods

Results

Conclusion

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