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Preimplantation Genetic Testing in Assisted Reproductive Technologies

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: 20 April 2026 | Viewed by 1156

Special Issue Editor


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Guest Editor
Division of Reproductive Endocrinology and Infertility, University Hospitals Fertility Center, Cleveland, OH 44106, USA
Interests: preimplantation genetic testing; embryo selection; in vitro fertilization; infertility; implantation failure; miscarriage; mosaicism; segmental aneuploidy; non-invasive technology
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Special Issue Information

Dear Colleagues,

Assisted reproductive technology (ART) has undergone remarkable progress since the birth of the first IVF baby in 1978, revolutionizing the field of reproductive medicine. The technological advancements in ART, particularly in micromanipulation techniques and the improvement of culture conditions, have enabled more precise fertilization, trophectoderm biopsy and embryo development. These innovations have not only addressed male infertility issues but have also significantly reduced the incidence of multiple pregnancies, a common concern with early ART methods. As a result, ART has contributed to improved pregnancy outcomes and healthier pregnancies overall.

In the United States alone, approximately 2% of all newborns are conceived through ART, highlighting the growing role of these technologies in modern reproductive healthcare. A key development in ART has been the introduction of preimplantation genetic testing (PGT), which has become a critical tool in the embryo selection process. PGT allows clinicians to screen embryos for genetic abnormalities before implantation, ensuring the selection of embryos that are either genetically normal or carry a lower risk of inheriting specific genetic disorders. This has greatly enhanced the likelihood of a successful pregnancy and live birth, while also helping to prevent the transmission of inheritable genetic conditions.

This Special Issue focuses on the various aspects of molecular screening during the preimplantation stage, aiming to enhance live birth rates and reduce the risk of unexpected miscarriages.

Dr. Sung Tae Kim
Guest Editor

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Keywords

  • preimplantation genetic testing
  • embryo selection
  • in vitro fertilization
  • infertility
  • implantation failure
  • miscarriage
  • mosaicism
  • segmental aneuploidy
  • non-invasive technology

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Published Papers (1 paper)

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Research

19 pages, 2374 KB  
Article
Preimplantation Genetic Testing of Spinocerebellar Ataxia Type 2—Robust Tools for Direct and Indirect Detection of the ATXN2 CAG Repeat Expansion
by Nur Asherah, Mulias Lian, Arnold S. Tan, Riho Taguchi, Pengyian Chua, Shuling Liu, Caroline G. Lee and Samuel S. Chong
Int. J. Mol. Sci. 2026, 27(3), 1546; https://doi.org/10.3390/ijms27031546 - 4 Feb 2026
Abstract
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disorder caused by a pathogenic CAG trinucleotide repeat expansion in the ATXN2 gene. At-risk couples can embark on unaffected pregnancies through preimplantation genetic testing of monogenic disorders (PGT-M) of SCA2, which should involve [...] Read more.
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disorder caused by a pathogenic CAG trinucleotide repeat expansion in the ATXN2 gene. At-risk couples can embark on unaffected pregnancies through preimplantation genetic testing of monogenic disorders (PGT-M) of SCA2, which should involve accurate repeat expansion detection together with risk haplotype tracking using informative linked markers. Two couples underwent SCA2 PGT-M involving analysis of whole genome amplified embryonic trophectoderm cells by ATXN2 (CAG)n triplet-primed PCR (TP-PCR) and linkage-based risk allele genotyping using customized markers. To simplify and expedite the identification of informative markers for future PGT-M cases, putative microsatellite markers closely linked to ATXN2 were initially screened for polymorphism using a small set of anonymous DNA samples obtained from Coriell Cell Repository. Shortlisted markers with high polymorphism likelihood were then multiplexed in a single-tube reaction and genotyped on 190 anonymous DNA samples to determine their polymorphic information content. Across both SCA2 PGT-M clinical cases, the linked marker genotypes corroborated the TP-PCR results, allowing clear differentiation between unaffected and affected embryos. In both cases, transfer of an unaffected embryo led to a successful pregnancy and live birth of a healthy baby. In silico mining, filtering, and curation identified 287 microsatellites located within 1.65 Mb of either side of the ATXN2 CAG repeat. Of these, eight upstream and nine downstream polymorphic markers were successfully co-amplified in a single-tube assay and demonstrated high overall heterozygosity in both Chinese and Caucasian populations. Conclusion: To ensure high diagnostic accuracy for PGT-M of SCA2, we developed a heptadecaplex microsatellite marker panel for haplotype-based linkage analysis to complement TP-PCR-based direct detection of the ATXN2 CAG repeat. The panel can rapidly identify informative markers from virtually any couple, and it works equally well on MDA-amplified DNAs for embryonic haplotype analysis. Full article
(This article belongs to the Special Issue Preimplantation Genetic Testing in Assisted Reproductive Technologies)
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