Correlation among blastocoel fluid DNA level, apoptotic genes expression and preimplantation aneuploidy

It is believed that aneuploid embryos release cell-free DNA (cfDNA) into the blastocyst cavity during the self-correction process through the apoptotic mechanism. This study aimed to develop less invasive methods for predicting ploidy status by investigating how ploidy status affects blastocoel flui...

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Main Authors: Fattaneh Khajehoseini, Zahra Noormohammadi, Poopak Eftekhari-Yazdi, Hamid Gourabi, Reza Pazhoomand, Shirzad Hosseinishenatal, Masood Bazrgar
Format: Article
Language:English
Published: Bioscientifica 2025-02-01
Series:Reproduction and Fertility
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Online Access:https://raf.bioscientifica.com/view/journals/raf/6/1/RAF-24-0097.xml
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Summary:It is believed that aneuploid embryos release cell-free DNA (cfDNA) into the blastocyst cavity during the self-correction process through the apoptotic mechanism. This study aimed to develop less invasive methods for predicting ploidy status by investigating how ploidy status affects blastocoel fluid DNA (BF-DNA) levels and apoptotic gene expression as indicators of embryo viability. Human blastocysts were classified into three groups; survivable embryo (SE), fatal single and double aneuploidy (FSDA) and multiple aneuploidy (MA) using array comparative genomic hybridization (array-CGH) by trophectoderm biopsy. Following BF aspiration and whole genome amplification, BF-DNA level was quantified. Apoptotic activity was assessed by measuring the genes TNFRSF10B, CASP2, BAX and CASP3 using real-time quantitative PCR. Day-5 intracytoplasmic sperm injection blastocysts were scored according to the Gardner and Schoolcraft system. BF-DNA levels were significantly higher in the MA vs SE group (P = 0.01), while these were not statistically significant differences between the MA and FSDA groups or between the FSDA and SE groups, P = 0.17 and P = 0.38, respectively. TNFRSF10B, CASP2 and CASP3 were overexpressed in the MA and FSDA groups compared to SE, while BAX was downregulated. We found a significant correlation between the amount of BF-DNA and apoptosis marker genes. No significant correlation was found between embryo morphology score and BF-DNA level, BF volume or apoptosis marker gene expression levels. We observed that the correlation between apoptotic activity and BF-DNA levels is influenced by the embryo’s ploidy status. These findings suggest that BF-DNA level evaluation can be applicable in selecting viable embryos for transfer.
ISSN:2633-8386