Preimplantation genetic testing in the current era, a review

Yafei Tian^{1

2}, Mingan Li³, Jingmin Yang^{1

4}, Hongyan Chen¹, Daru Lu^{5

6}

Affiliations

¹ State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai, 200438, China.
² MOE Engineering Research Center of Gene Technology, Obstetrics and Gynecology Hospital, Fudan University, Shanghai, 200433, China.
³ Center for Reproductive Medicine, The Affiliated Shuyang Hospital of Xuzhou Medical University, Suqian, 223800, Jiangsu Province, China.
⁴ NHC Key Laboratory of Birth Defects and Reproductive Health, (Chongqing Key Laboratory of Birth Defects and Reproductive Health, Chongqing Population and Family Planning Science and Technology Research Institute), Chongqing, 400020, China.
⁵ MOE Engineering Research Center of Gene Technology, Obstetrics and Gynecology Hospital, Fudan University, Shanghai, 200433, China. drlu@fudan.edu.cn.
⁶ NHC Key Laboratory of Birth Defects and Reproductive Health, (Chongqing Key Laboratory of Birth Defects and Reproductive Health, Chongqing Population and Family Planning Science and Technology Research Institute), Chongqing, 400020, China. drlu@fudan.edu.cn.

PMID: 38376520
DOI: 10.1007/s00404-024-07370-z

Review

Preimplantation genetic testing in the current era, a review

Yafei Tian et al. Arch Gynecol Obstet. 2024 May.

. 2024 May;309(5):1787-1799.

doi: 10.1007/s00404-024-07370-z. Epub 2024 Feb 20.

Authors

Yafei Tian^{1

2}, Mingan Li³, Jingmin Yang^{1

4}, Hongyan Chen¹, Daru Lu^{5

6}

Affiliations

¹ State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai, 200438, China.
² MOE Engineering Research Center of Gene Technology, Obstetrics and Gynecology Hospital, Fudan University, Shanghai, 200433, China.
³ Center for Reproductive Medicine, The Affiliated Shuyang Hospital of Xuzhou Medical University, Suqian, 223800, Jiangsu Province, China.
⁴ NHC Key Laboratory of Birth Defects and Reproductive Health, (Chongqing Key Laboratory of Birth Defects and Reproductive Health, Chongqing Population and Family Planning Science and Technology Research Institute), Chongqing, 400020, China.
⁵ MOE Engineering Research Center of Gene Technology, Obstetrics and Gynecology Hospital, Fudan University, Shanghai, 200433, China. drlu@fudan.edu.cn.
⁶ NHC Key Laboratory of Birth Defects and Reproductive Health, (Chongqing Key Laboratory of Birth Defects and Reproductive Health, Chongqing Population and Family Planning Science and Technology Research Institute), Chongqing, 400020, China. drlu@fudan.edu.cn.

PMID: 38376520
DOI: 10.1007/s00404-024-07370-z

Abstract

Background: Preimplantation genetic testing (PGT), also referred to as preimplantation genetic diagnosis (PGD), is an advanced reproductive technology used during in vitro fertilization (IVF) cycles to identify genetic abnormalities in embryos prior to their implantation. PGT is used to screen embryos for chromosomal abnormalities, monogenic disorders, and structural rearrangements.

Development of pgt: Over the past few decades, PGT has undergone tremendous development, resulting in three primary forms: PGT-A, PGT-M, and PGT-SR. PGT-A is utilized for screening embryos for aneuploidies, PGT-M is used to detect disorders caused by a single gene, and PGT-SR is used to detect chromosomal abnormalities caused by structural rearrangements in the genome.

Purpose of review: In this review, we thoroughly summarized and reviewed PGT and discussed its pros and cons down to the minutest aspects. Additionally, recent studies that highlight the advancements of PGT in the current era, including their future perspectives, were reviewed.

Conclusions: This comprehensive review aims to provide new insights into the understanding of techniques used in PGT, thereby contributing to the field of reproductive genetics.

Keywords: PGT-M; PGT-A; Preimplantation genetic diagnosis; Preimplantation genetic screening; Preimplantation genetic testing.

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References

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Preimplantation genetic testing in the current era, a review

Affiliations

Preimplantation genetic testing in the current era, a review

Authors

Affiliations

Abstract

References

Publication types

MeSH terms

Grants and funding

LinkOut - more resources

Full Text Sources

Medical

Research Materials

Miscellaneous