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Updated: Jun 29, 2025
Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Differentially expressed microRNAs in aneuploid preimplantation blastocysts: a systematic review
Arwa Almutlaq1,2, Xavier Viñals Gonzalez1, Sioban SenGupta1
1Reproductive Health, Institute for Women's Health, University College London (UCL), London, United Kingdom.
Introduction:
MicroRNAs are small noncoding genes with gene expression regulatory function. Their emergence as potential diagnostic biomarker for many diseases has gained a specific interest among researchers. Observations of changes in miRNA levels correlating with aneuploidy in early embryos raise the prospective of employing miRNA as biomarkers to assess the embryo quality.
Method:
To identify and gather the miRNAs with potential link to chromosomal abnormalities in embryos from previous research, we conducted a systematic search using four databases, including Embase, Medline, Web of Science, and Cochrane databases in accordance with PRISMA guidelines.
Results:
Out of 200 identified records, only seven met the inclusion criteria. Seven miRNAs: miR-19b, miR-517c, miR-518e, miR-522, miR-92a, and miR-106a exhibited persistent downregulation in aneuploid blastocysts in the included studies. These miRNAs are members of important miRNA clusters, associated with abnormal expression in studies on reproductive failure. Pathway analysis revealed their involvement in regulating gene transcription, as well as cell cycle progression and apoptosis.
Discussion:
The changes detected in the miRNA expression in aneuploid embryos across different studies support the aneuploidy and miRNA relationship and prospect miRNA as a valuable tool for the assessment of embryo quality. Collectively, these observations highlight the role of miRNAs in embryonic development, and their involvement in genetic abnormalities that occur in embryos, such as aneuploidy, indicating their potential implementation to improve the embryo selection and reproductive outcomes.
Insights
Specific microRNAs (miRNAs) are downregulated in aneuploid embryos, suggesting their potential as biomarkers for assessing embryo quality and improving reproductive outcomes.
Area of Science:
- Reproductive Biology
- Genetics
- Biomarker Discovery
Background:
- MicroRNAs (miRNAs) are small noncoding RNAs regulating gene expression.
- Altered miRNA levels correlate with aneuploidy in early embryos, indicating potential as biomarkers for embryo quality.
- Identifying specific miRNAs linked to chromosomal abnormalities is crucial for reproductive medicine.
Approach:
- A systematic literature search was conducted across Embase, Medline, Web of Science, and Cochrane databases.
- PRISMA guidelines were followed to ensure a rigorous and transparent systematic review.
- Seven miRNAs were identified as consistently downregulated in aneuploid blastocysts across included studies.
Key Points:
- Seven specific miRNAs (miR-19b, miR-517c, miR-518e, miR-522, miR-92a, miR-106a) were found to be downregulated in aneuploid embryos.
- These miRNAs are part of clusters implicated in reproductive failure and regulate key processes like cell cycle and apoptosis.
- Downregulation of these miRNAs in aneuploid blastocysts suggests a direct link to chromosomal abnormalities.
Conclusions:
- The consistent downregulation of specific miRNAs in aneuploid embryos supports their role in embryonic development and genetic abnormalities.
- These miRNAs show promise as valuable biomarkers for non-invasive assessment of embryo quality.
- Utilizing miRNA profiling may enhance embryo selection strategies, ultimately improving assisted reproductive technology outcomes.
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