Non-Invasive Preimplantation Genetic Testing for Aneuploidy and the Mystery of Genetic Material: A Review Article
This review focuses on recent findings in the preimplantation genetic testing (PGT) of embryos. Different preimplantation genetic tests are presented along with different genetic materials and their analysis. Original material concerning preimplantation genetic testing for aneuploidy (PGT-A) was sou...
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| Format: | Article |
| Language: | English |
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MDPI AG
2022-03-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/23/7/3568 |
| _version_ | 1797439139340091392 |
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| author | Maja Tomic Eda Vrtacnik Bokal Martin Stimpfel |
| author_facet | Maja Tomic Eda Vrtacnik Bokal Martin Stimpfel |
| author_sort | Maja Tomic |
| collection | DOAJ |
| description | This review focuses on recent findings in the preimplantation genetic testing (PGT) of embryos. Different preimplantation genetic tests are presented along with different genetic materials and their analysis. Original material concerning preimplantation genetic testing for aneuploidy (PGT-A) was sourced by searching the PubMed and ScienceDirect databases in October and November 2021. The searches comprised keywords such as ‘preimplantation’, ‘cfDNA’; ‘miRNA’, ‘PGT-A’, ‘niPGT-A’, ‘aneuploidy’, ‘mosaicism’, ‘blastocyst biopsy’, ‘blastocentesis’, ‘blastocoel fluid’, ‘NGS’, ‘FISH’, and ‘aCGH’. Non-invasive PGT-A (niPGT-A) is a novel approach to the genetic analysis of embryos. The premise is that the genetic material in the spent embryo culture media (SECM) corresponds to the genetic material in the embryo cells. The limitations of niPGT-A are a lower quantity and lesser quality of the cell-free genetic material, and its unknown origin. The concordance rate varies when compared to invasive PGT-A. Some authors have also hypothesized that mosaicism and aneuploid cells are preferentially excluded from the embryo during early development. Cell-free genetic material is readily available in the spent embryo culture media, which provides an easier, more economic, and safer extraction of genetic material for analysis. The sampling of the SECM and DNA extraction and amplification must be optimized. The origin of the cell-free media, the percentage of apoptotic events, and the levels of DNA contamination are currently unknown; these topics need to be further investigated. |
| first_indexed | 2024-03-09T11:47:25Z |
| format | Article |
| id | doaj.art-54173552982f4fd6a273965f2276b3e3 |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-09T11:47:25Z |
| publishDate | 2022-03-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-54173552982f4fd6a273965f2276b3e32023-11-30T23:18:47ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672022-03-01237356810.3390/ijms23073568Non-Invasive Preimplantation Genetic Testing for Aneuploidy and the Mystery of Genetic Material: A Review ArticleMaja Tomic0Eda Vrtacnik Bokal1Martin Stimpfel2Department of Human Reproduction, Division of Obstetrics and Gynecology, University Medical Center Ljubljana, 1000 Ljubljana, SloveniaDepartment of Human Reproduction, Division of Obstetrics and Gynecology, University Medical Center Ljubljana, 1000 Ljubljana, SloveniaDepartment of Human Reproduction, Division of Obstetrics and Gynecology, University Medical Center Ljubljana, 1000 Ljubljana, SloveniaThis review focuses on recent findings in the preimplantation genetic testing (PGT) of embryos. Different preimplantation genetic tests are presented along with different genetic materials and their analysis. Original material concerning preimplantation genetic testing for aneuploidy (PGT-A) was sourced by searching the PubMed and ScienceDirect databases in October and November 2021. The searches comprised keywords such as ‘preimplantation’, ‘cfDNA’; ‘miRNA’, ‘PGT-A’, ‘niPGT-A’, ‘aneuploidy’, ‘mosaicism’, ‘blastocyst biopsy’, ‘blastocentesis’, ‘blastocoel fluid’, ‘NGS’, ‘FISH’, and ‘aCGH’. Non-invasive PGT-A (niPGT-A) is a novel approach to the genetic analysis of embryos. The premise is that the genetic material in the spent embryo culture media (SECM) corresponds to the genetic material in the embryo cells. The limitations of niPGT-A are a lower quantity and lesser quality of the cell-free genetic material, and its unknown origin. The concordance rate varies when compared to invasive PGT-A. Some authors have also hypothesized that mosaicism and aneuploid cells are preferentially excluded from the embryo during early development. Cell-free genetic material is readily available in the spent embryo culture media, which provides an easier, more economic, and safer extraction of genetic material for analysis. The sampling of the SECM and DNA extraction and amplification must be optimized. The origin of the cell-free media, the percentage of apoptotic events, and the levels of DNA contamination are currently unknown; these topics need to be further investigated.https://www.mdpi.com/1422-0067/23/7/3568aneuploidyblastocoelcell free DNAembryo biopsypreimplantation genetic testingspent embryo culture media |
| spellingShingle | Maja Tomic Eda Vrtacnik Bokal Martin Stimpfel Non-Invasive Preimplantation Genetic Testing for Aneuploidy and the Mystery of Genetic Material: A Review Article International Journal of Molecular Sciences aneuploidy blastocoel cell free DNA embryo biopsy preimplantation genetic testing spent embryo culture media |
| title | Non-Invasive Preimplantation Genetic Testing for Aneuploidy and the Mystery of Genetic Material: A Review Article |
| title_full | Non-Invasive Preimplantation Genetic Testing for Aneuploidy and the Mystery of Genetic Material: A Review Article |
| title_fullStr | Non-Invasive Preimplantation Genetic Testing for Aneuploidy and the Mystery of Genetic Material: A Review Article |
| title_full_unstemmed | Non-Invasive Preimplantation Genetic Testing for Aneuploidy and the Mystery of Genetic Material: A Review Article |
| title_short | Non-Invasive Preimplantation Genetic Testing for Aneuploidy and the Mystery of Genetic Material: A Review Article |
| title_sort | non invasive preimplantation genetic testing for aneuploidy and the mystery of genetic material a review article |
| topic | aneuploidy blastocoel cell free DNA embryo biopsy preimplantation genetic testing spent embryo culture media |
| url | https://www.mdpi.com/1422-0067/23/7/3568 |
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