Next Article in Journal
Updates on the Regulatory Framework of Edited Organisms in Brazil: A Molecular Revolution in Brazilian Agribusiness
Previous Article in Journal
Statistical Analysis of Reproductive Traits in Jinwu Pig and Identification of Genome-Wide Association Loci
Previous Article in Special Issue
Reproductive Choices in Haemoglobinopathies: The Role of Preimplantation Genetic Testing
 
 
Font Type:
Arial Georgia Verdana
Font Size:
Aa Aa Aa
Line Spacing:
Column Width:
Background:
This is an early access version, the complete PDF, HTML, and XML versions will be available soon.
Review

Non-Invasive Preimplantation Genetic Testing

by
Daniela N. Bakalova
,
Luis Navarro-Sánchez
and
Carmen Rubio
*
Igenomix (Part of Vitrolife Group), R&D Genetic Services, 46980 Paterna, Valencia, Spain
*
Author to whom correspondence should be addressed.
Genes 2025, 16(5), 552; https://doi.org/10.3390/genes16050552
Submission received: 14 March 2025 / Revised: 16 April 2025 / Accepted: 25 April 2025 / Published: 30 April 2025

Abstract

To minimise the influence of chromosomal abnormalities during IVF treatment, embryos can be screened before transfer using preimplantation genetic testing. This typically involves an invasive trophectoderm biopsy at the blastocyst stage, where 4–8 cells are collected and analysed. However, emerging evidence indicates that, as embryos develop in vitro in culture media, they release cell-free DNA into the media, providing an alternative source of genetic material that can be accessed non-invasively. Spent blastocyst media samples that contain embryo cell-free DNA demonstrate high informativity rates and ploidy concordance when compared with the corresponding trophectoderm, inner cell mass, or whole blastocyst results. However, optimising this non-invasive approach requires several changes to embryo culture protocols, including additional embryo washes to tackle contamination and extending embryo culture time to maximise the amount of cell-free DNA released into the culture media. In this review, we discuss this novel non-invasive approach for aneuploidy detection and embryo prioritisation, as well as the current data and future prospects for utilising cell-free DNA analysis to identify structural rearrangements and single gene disorders.
Keywords: non-invasive PGT; cell-free DNA; aneuploidy; blastocyst; culture medium non-invasive PGT; cell-free DNA; aneuploidy; blastocyst; culture medium

Share and Cite

MDPI and ACS Style

Bakalova, D.N.; Navarro-Sánchez, L.; Rubio, C. Non-Invasive Preimplantation Genetic Testing. Genes 2025, 16, 552. https://doi.org/10.3390/genes16050552

AMA Style

Bakalova DN, Navarro-Sánchez L, Rubio C. Non-Invasive Preimplantation Genetic Testing. Genes. 2025; 16(5):552. https://doi.org/10.3390/genes16050552

Chicago/Turabian Style

Bakalova, Daniela N., Luis Navarro-Sánchez, and Carmen Rubio. 2025. "Non-Invasive Preimplantation Genetic Testing" Genes 16, no. 5: 552. https://doi.org/10.3390/genes16050552

APA Style

Bakalova, D. N., Navarro-Sánchez, L., & Rubio, C. (2025). Non-Invasive Preimplantation Genetic Testing. Genes, 16(5), 552. https://doi.org/10.3390/genes16050552

Note that from the first issue of 2016, this journal uses article numbers instead of page numbers. See further details here.

Article Metrics

Back to TopTop