Open Access

Egyptian Journal of Medical Human Genetics, volume 26, issue 1, publication number 24

Preimplantation aneuploidy screening using embryonic cell-free DNA isolated from spent culture medium: a case report

Lama Khudari ¹

Marwan Halabi ²

Fahoum Sahar Al ¹

Department of Biochemistry and Microbiology, Faculty of Pharmacy, Damascus University, Damascus, Syrian Arab Republic |

Department of Anatomy, Histology and Embryology, Faculty of Medicine, Damascus University, Damascus, Syrian Arab Republic

Publication type: Journal Article

Publication date: 2025-02-07

Springer Nature

Journal: Egyptian Journal of Medical Human Genetics

scimago Q4

SJR: 0.362

CiteScore: 2.2

Impact factor: 1.2

ISSN: 11108630, 20902441

DOI: 10.1186/s43042-025-00654-2

Copy DOI

Abstract

Background

Chromosomal aberrations are frequent in human embryos and can be identified during IVF by performing preimplantation genetic testing for aneuploidies (PGT-A). Therefore, this study presents a case report highlighting the application of embryonic cell-free DNA isolated from spent culture medium for preimplantation aneuploidy screening.

Case presentation

This case report elucidates the potential use of non-invasive preimplantation genetic testing for aneuploidy (PGT-A) as a valuable resource for couples facing infertility challenges. By using PGT-A, these couples can assess the genetic health of embryos before implantation, thereby increasing the chances of a successful pregnancy through assisted reproductive technologies.

Conclusions

PGT-A, an innovative technique using embryonic cell-free DNA isolated from a spent culture medium, offers a non-invasive and effective method for assessing chromosomal aberrations in embryos. It has the potential to enhance preimplantation genetic testing and support medically personalized embryo selection.