PREIMPLANTATION GENETIC TESTING: clinical experience of preimplantation genetic testing
Open accessAbstract
Thirty years of rapid technological advances in the field of genetic testing and assisted reproduction have reshaped the procedure of preimplantation genetic testing (PGT). The development of whole genome amplification and genome-wide testing tools together with the implementation of optimal hormonal stimulation protocols and more efficient cryopreservation methods have led to more accurate diagnoses and improved clinical outcomes. In addition, the shift towards embryo biopsy at day 5/6 has changed the timeline of a typical PGT clinical procedure. In this paper, we present an up-to-date overview of the different steps in PGT from patient referral to baby follow-up.
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Pre-implantation genetic testing is currently offered to women with recurrent pregnancy loss or repetitive implantation failure after in vitro fertilization procedures although the clinical benefit is an ongoing topic of discussion.
“Pre-implantation genetic testing is currently offered to women with recurrent pregnancy loss or repetitive implantation failure after in vitro fertilization procedures although the clinical benefit is an ongoing topic of discussion.74,75”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [75]
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- Authors
- De Rycke, M., Berckmoes, V., De Vos, A., Van De Voorde, S., Verdyck, P., Verpoest, W., & Keymolen, K.
- Affiliations
- Centre for Medical Genetics , Universitair Ziekenhuis Brussel, Laarbeeklaan, Brussels, Belgium
- Universitair Ziekenhuis Brussel (BE)
- Centre for Reproductive Medicine , Universitair Ziekenhuis Brussel, Laarbeeklaan, Brussels, Belgium
- Venue
- Reproduction
- Publisher
- Oxford University Press (OUP)
- Published
- 2020-11-01
- Volume
- 160
- Issue
- 5
- Pages
- A45-A58
- ISSN
- 1470-1626 (ISSN-L)
- 1741-7899
- OpenAlex
- W3093062849
- Cited by
- 34
- References
- 80
- Citations by year
- 2026: 3 · 2025: 4 · 2024: 13 · 2023: 7 · 2022: 5 · 2021: 2
- FWCI
- 0.77
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Reproduction (publishedVersion)
- PubMed (publishedVersion)
- VUBIR (Vrije Universiteit Brussel) (submittedVersion)
- Topics
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Assisted Reproductive Technology and Twin Pregnancy
- Health Sciences › Medicine › Reproductive Medicine › Reproductive Health and Technologies
- Keywords
- preimplantation genetic testing, assisted reproduction, whole genome amplification, embryo cryopreservation, referral, clinical outcomes, patient follow-up
- MeSH terms
- Chromosome Aberrations, Female, Fetal Diseases, Genetic Testing, Humans, Pregnancy, Preimplantation Diagnosis, Genetic Diseases, Inborn
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