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Genes
Special Issues
Current Advances and Future Perspectives on Preimplantation Genetic Testing
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Current Advances and Future Perspectives on Preimplantation Genetic Testing

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: 5 May 2025 | Viewed by 2352

Special Issue Editor

Prof. Dr. Martine De Rycke

E-Mail Website1 Website2
Guest Editor
Clinical Sciences, Research Group Genetics, Reproduction and Development, Centre for Medical Genetics, Universitair Ziekenhuis Brussel (UZ Brussel), Vrije Universiteit Brussel (VUB), Laarbeeklaan 101, 1090 Brussels, Belgium
Interests: preimplantation genetic testing; epigenetic safety after ART
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Ever since the first report on children born after PGT by A. Handyside and colleagues in 1990, the field of PGT, at the crossroads of embryo genetics and assisted reproduction, has been characterized by rapid technological advances. Therefore, a timely update on the status and future perspectives is appropriate. In this Special Issue entitled 'Current Advances and Future Perspectives on Preimplantation Genetic Testing', we invite short communications, original research papers, and state-of-the-art reviews that contribute to the field of human embryo genetics and preimplantation genetic testing. Papers on any aspect of PGT clinical practice—PGT-M, PGT-SR, or PGT-A—are welcome, from patient referral to baby follow-up. Research areas may include but are not limited to:

  • Preconception carrier screening;
  • Embryo biopsy and cryopreservation;
  • Single/few cell whole genome testing technologies;
  • Non-invasive PGT;
  • Chromosomal mosaicism;
  • PGT-P;
  • Gene editing in embryos.

We are looking forward to your submissions.

Prof. Dr. Martine De Rycke
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • preimplantation genetic testing
  • monogenic disorders
  • aneuploidy
  • chromosomal aberrations
  • embryo biopsy
  • embryo cryopreservation
  • non-invasive PGT
  • chromosomal mosaicism.

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Published Papers (3 papers)

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Research

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13 pages, 1994 KiB  
Article
APCAD Part 2: A Novel Method for Detection of Meiotic Aneuploidy in Preimplantation Embryos
by Pieter Verdyck, Veerle Berckmoes, Elia Fernandez Gallardo, Kathelijn Keymolen, Catharina Olsen and Martine De Rycke
Genes 2025, 16(2), 115; https://doi.org/10.3390/genes16020115 - 21 Jan 2025
Viewed by 433
Abstract
Background/Objectives: Preimplantation genetic testing methods to detect aneuploidy (PGT-A) based on genomewide single nucleotide polymorphism (SNP) data were scarce and did not meet our needs. Methods: Hence, we developed a novel method for this purpose. After the raw B-allele frequency (rBAF) values of [...] Read more.
Background/Objectives: Preimplantation genetic testing methods to detect aneuploidy (PGT-A) based on genomewide single nucleotide polymorphism (SNP) data were scarce and did not meet our needs. Methods: Hence, we developed a novel method for this purpose. After the raw B-allele frequency (rBAF) values of Single Nucleotide Polymorfisms (SNPs) are obtained from a sample of interest with SNP array, the BAF values for specific categories of SNPs (cBAF) are visualized separately. Results: The analysis of the cBAF, rBAF and Log2R profiles enables to distinguish all common types of chromosomal abnormalities without haplotyping. This was demonstrated by reanalyzing data from 359 embryos which had previously been analyzed with Karyomapping. We identified additional underrepresented maternal haplotypes in five samples that we could not detect with Karyomapping. In addition, we identified all chromosomes with meiotic-origin copy number gains (both parental homolog (BPH)) (n = 70) and all chromosomes with a non-mosaic copy number loss larger than 5 Mb (n = 93) that had been detected with Karyomapping. Conclusions: We conclude that the proposed method can be used to reliably detect meiotic-origin aneuploidy without haplotyping and, hence without the need for a phasing reference. Full article
(This article belongs to the Special Issue Current Advances and Future Perspectives on Preimplantation Genetic Testing)
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Review

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22 pages, 1291 KiB  
Review
Trophectoderm Biopsy: Present State of the Art
by Anick De Vos and Neelke De Munck
Genes 2025, 16(2), 134; https://doi.org/10.3390/genes16020134 - 24 Jan 2025
Viewed by 398
Abstract
Trophectoderm (TE) biopsy is at present the most widely used procedure for preimplantation genetic testing (PGT). At the blastocyst stage, more TE cells (five to seven) can be obtained for genetic analysis. While removing TE cells and not touching the inner cell mass [...] Read more.
Trophectoderm (TE) biopsy is at present the most widely used procedure for preimplantation genetic testing (PGT). At the blastocyst stage, more TE cells (five to seven) can be obtained for genetic analysis. While removing TE cells and not touching the inner cell mass (ICM), the procedure is less invasive. Due to a natural selection happening between day 3 and day 5, 6 or 7 of human embryo development, fewer embryos will have to be biopsied and tested. An additional benefit, especially in view of aneuploidy testing (PGT-A), is the lower level of mosaicism present at the blastocyst stage. The biopsy procedure involves two steps: laser-assisted zona pellucida (ZP) opening and the excision of five to eight TE cells from the blastocyst with or without additional laser energy. Different protocols have emerged over time with variations regarding the technique, the exact moment of ZP opening, and the method of cell removal. The ‘pulling’ method involves laser excision, whereas the ‘flicking’ method represents a mechanical approach with or without laser assistance. Embryo developmental speed reaching the full/expanded or hatching/hatched blastocyst stage dictates the timing of the procedure, mostly on day 5 post-insemination, and to a lesser extent on day 6 or even on day 7. The inclusion of lesser quality or delayed blastocysts may impact the quality of the TE sample as well as the clinical outcome. Intracytoplasmic sperm injection (ICSI) is still the preferred method of fertilization for PGT-M (monogenic disorders) and PGT-SR (structural rearrangements). However, conventional in vitro fertilization (IVF) seems feasible for PGT-A (aneuploidy testing). In the absence of a (conclusive) genetic result, the re-biopsy of cryopreserved blastocysts is possible, however, with reduced clinical outcomes. So far, neonatal outcome post-TE biopsy has so far been reassuringly documented. Full article
(This article belongs to the Special Issue Current Advances and Future Perspectives on Preimplantation Genetic Testing)
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16 pages, 1584 KiB  
Review
Advancements and Challenges in Preimplantation Genetic Testing for Aneuploidies: In the Pathway to Non-Invasive Techniques
by Ana del Arco de la Paz, Carla Giménez-Rodríguez, Aikaterini Selntigia, Marcos Meseguer and Daniela Galliano
Genes 2024, 15(12), 1613; https://doi.org/10.3390/genes15121613 - 17 Dec 2024
Viewed by 1053
Abstract
The evolution of preimplantation genetic testing for aneuploidy (PGT-A) techniques has been crucial in assisted reproductive technologies (ARTs), improving embryo selection and increasing success rates in in vitro fertilization (IVF) treatments. Techniques ranging from fluorescence in situ hybridization (FISH) to next-generation sequencing (NGS) [...] Read more.
The evolution of preimplantation genetic testing for aneuploidy (PGT-A) techniques has been crucial in assisted reproductive technologies (ARTs), improving embryo selection and increasing success rates in in vitro fertilization (IVF) treatments. Techniques ranging from fluorescence in situ hybridization (FISH) to next-generation sequencing (NGS) have relied on cellular material extraction through biopsies of blastomeres at the cleavage stage on day three or from trophectoderm (TE) cells of the blastocyst. However, this has raised concerns about its potential impact on embryo development. As a result, there has been growing interest in developing non-invasive techniques for detecting aneuploidies, such as the analysis of blastocoel fluid (BF), spent culture medium (SCM), and artificial intelligence (AI) models. Non-invasive methods represent a promising advancement in PGT-A, offering the ability to detect aneuploidies without compromising embryo viability. This article reviews the evolution and principles of PGT-A, analyzing both traditional techniques and emerging non-invasive approaches, while highlighting the advantages and challenges associated with these methodologies. Furthermore, it explores the transformative potential of these innovations, which could optimize genetic screening and significantly improve clinical outcomes in the field of assisted reproduction. Full article
(This article belongs to the Special Issue Current Advances and Future Perspectives on Preimplantation Genetic Testing)
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