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

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...

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Main Authors: Lama Khudari, Marwan Halabi, Sahar Al Fahoum
Format: Article
Language:English
Published: SpringerOpen 2025-02-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Online Access:https://doi.org/10.1186/s43042-025-00654-2
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author Lama Khudari
Marwan Halabi
Sahar Al Fahoum
author_facet Lama Khudari
Marwan Halabi
Sahar Al Fahoum
author_sort Lama Khudari
collection DOAJ
description 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.
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institution Kabale University
issn 2090-2441
language English
publishDate 2025-02-01
publisher SpringerOpen
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series Egyptian Journal of Medical Human Genetics
spelling doaj-art-f910803416624b009b37ce043fb766042025-02-09T12:40:11ZengSpringerOpenEgyptian Journal of Medical Human Genetics2090-24412025-02-012611410.1186/s43042-025-00654-2Preimplantation aneuploidy screening using embryonic cell-free DNA isolated from spent culture medium: a case reportLama Khudari0Marwan Halabi1Sahar Al Fahoum2Department of Biochemistry and Microbiology, Faculty of Pharmacy, Damascus UniversityDepartment of Anatomy, Histology and Embryology, Faculty of Medicine, Damascus UniversityDepartment of Biochemistry and Microbiology, Faculty of Pharmacy, Damascus UniversityAbstract 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.https://doi.org/10.1186/s43042-025-00654-2Embryonic cell-free DNAPreimplantation genetic testing (PGT-A)AneuploidySpent culture mediumCase report
spellingShingle Lama Khudari
Marwan Halabi
Sahar Al Fahoum
Preimplantation aneuploidy screening using embryonic cell-free DNA isolated from spent culture medium: a case report
Egyptian Journal of Medical Human Genetics
Embryonic cell-free DNA
Preimplantation genetic testing (PGT-A)
Aneuploidy
Spent culture medium
Case report
title Preimplantation aneuploidy screening using embryonic cell-free DNA isolated from spent culture medium: a case report
title_full Preimplantation aneuploidy screening using embryonic cell-free DNA isolated from spent culture medium: a case report
title_fullStr Preimplantation aneuploidy screening using embryonic cell-free DNA isolated from spent culture medium: a case report
title_full_unstemmed Preimplantation aneuploidy screening using embryonic cell-free DNA isolated from spent culture medium: a case report
title_short Preimplantation aneuploidy screening using embryonic cell-free DNA isolated from spent culture medium: a case report
title_sort preimplantation aneuploidy screening using embryonic cell free dna isolated from spent culture medium a case report
topic Embryonic cell-free DNA
Preimplantation genetic testing (PGT-A)
Aneuploidy
Spent culture medium
Case report
url https://doi.org/10.1186/s43042-025-00654-2
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AT marwanhalabi preimplantationaneuploidyscreeningusingembryoniccellfreednaisolatedfromspentculturemediumacasereport
AT saharalfahoum preimplantationaneuploidyscreeningusingembryoniccellfreednaisolatedfromspentculturemediumacasereport