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Non Invasive Preimplantation Testing for Aneuploidies in Assisted Reproduction: A SWOT Analysis

  • Reproductive Genetics: Review
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A Correction to this article was published on 21 January 2025

This article has been updated

Abstract

The implementation of non-invasive PGT-A offers a new strategy to genetically assess the preimplantation embryo and to enhance IVF results. The extraction of DNA from the embryo culture medium has been sufficiently demonstrated, and the ability to obtain chromosomal information as a result is particularly interesting. As morphological criteria have proven to have a weak correlation with embryo ploidy status, this technique emerges as a promising alternative for embryo selection. It also appears reasonable that avoiding biopsy may enhance further embryo development. However, there are growing concerns regarding several aspects of this technique, such as the origin of this cell free DNA, the degree of representativeness of the whole embryo, the need for extended culture or the absence of standardized protocols. Despite the published data on good prognosis couples are promising, niPGT-A is yet to be considered a substitute for trophectoderm biopsy. The current SWOT analysis aims to summarize both resolved and unresolved issues, as well as limiting aspects of niPGT-A.

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Data Availability

No datasets where generated nor analysed during the current study.

Code Availability

Not applicable.

Change history

Abbreviations

AI:

Artificial intelligence

AUC:

Area under the curve

cfDNA:

Cell-free DNA

CGH:

Comparative genomic hybridisation

IVF:

In vitro fertilization

i-PGTA:

Invasive PGT-A

IR:

Implantation rate

NGS:

Next-generation sequencing

ni-PGTA:

Non-invasive PGT-A

OPR:

On going pregnancy rates

PCR:

Polymerase chain reaction

PGT-A:

Preimplantational Genetic Testing for aneuploidies

SCM:

Spent culture media

Se:

Sensitivity

SP:

Specificity

TB:

Trophectoderm biopsies

TE:

Trophoectoderm

WGA:

Whole Genome Amplification

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Acknowledgements

We thank Magdalena Abad for her contributions.

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Authors and Affiliations

  1. Hospital Ruber Internacional, Madrid, Spain

    Elena Carrillo de Albornoz & Yosu Franco Iriarte

  2. IERA, Badajoz, Spain

    Jose Antonio Dominguez Arroyo

  3. Sistemas Genómicos, Valencia, Spain

    Jose Antonio Dominguez Arroyo

  4. UR Moncloa, Madrid, Spain

    Xavier Vendrell

  5. UR Moncloa, Hospital Universitario 12 de Octubre, Madrid, Spain

    Verónica Martínez Vidal

  6. Universidad Europea, Madrid, España

    María Carrera Roig

  7. Universidad Complutense, Madrid, España

    María Carrera Roig

  8. Doctoral Program in Medicine and Surgery, Universidad Autonoma of Madrid, C. Arzobispo Morcillo, Madrid, 28029, Spain

    Elena Carrillo de Albornoz

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  1. Elena Carrillo de Albornoz
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  6. María Carrera Roig
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Correspondence to María Carrera Roig.

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de Albornoz, E.C., Arroyo, J.A.D., Iriarte, Y.F. et al. Non Invasive Preimplantation Testing for Aneuploidies in Assisted Reproduction: A SWOT Analysis. Reprod. Sci. 32, 1–14 (2025). https://doi.org/10.1007/s43032-024-01698-2

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