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Development of a Digital PCR Based Non-Invasive Prenatal Diagnostic Kit for the Early Detection of Aneuploidy Syndromes During Pregnancy
Research Area
Scientific Overview
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Human somatic cells possess a total of 46 chromosomes. Aneuploidy, a condition characterised by alterations in the number of individual chromosomes, is exemplified by Trisomy 13, 18, and 21, which result in Patau, Edwards, and Down syndromes, respectively. These chromosomal abnormalities are significant contributors to miscarriage and congenital anomalies, representing some of the most prevalent genetic disorders.
The early and precise detection of trisomies is paramount to improving clinical outcomes. Current routine diagnostic methods, such as first-trimester screening tests (e.g., β-HCG, PAPP-A, and nuchal translucency measurements), exhibit limited sensitivity—detecting approximately 50% of cases of Trisomy 21. While amniocentesis offers high diagnostic accuracy, its invasive nature poses a 1% risk of pregnancy loss.
The discovery of fetal cell-free DNA (cfDNA) in maternal circulation in 1997 revolutionised prenatal testing. Non-invasive prenatal testing (NIPT), which utilises cfDNA, achieves exceptional sensitivity and specificity but is dependent on the advanced and resource-intensive Next-Generation Sequencing (NGS) platform.
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Digital PCR (dPCR) emerges as a transformative technology in this context, enabling precise quantification of nucleic acids through the division of samples into thousands of partitions. This innovative technique offers unparalleled sensitivity, making it ideal for detecting genetic anomalies, oncogenic markers, and viral pathogens.
Our project leverages the power of digital PCR to create a robust, rapid, safe, and cost-efficient method for detecting aneuploidies, addressing the limitations of existing diagnostic tools.
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Project Objectives
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1. High Sensitivity and Specificity
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Our primary objective is to develop a diagnostic tool with superior sensitivity and specificity by integrating the digital PCR technique with Methylation-Sensitive Restriction Enzymes (MSREs) following DNA isolation. This approach ensures precise detection of chromosomal abnormalities.
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2. Rapid Turnaround Time
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The proposed method is engineered to deliver results within a window of 180 to 210 minutes after DNA isolation, incorporating the MSRE methodology to streamline the analytical process.
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3. Cost-Effectiveness
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Compared to the high cost and prolonged timelines associated with NGS-based methodologies, our solution offers a significant reduction in both expense and processing time, delivering similar diagnostic accuracy with greater efficiency.
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4. Non-Invasive and Safe
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To prioritise maternal and fetal safety, the proposed method is entirely non-invasive. It utilises maternal blood samples as the source of testing material, eliminating any procedural risks inherent in invasive diagnostic approaches.
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By harnessing the precision of digital PCR combined with the specificity of MSREs, this project aims to address critical challenges in aneuploidy diagnostics. Our approach offers an innovative solution that is fast, reliable, cost-effective, and safe, paving the way for improved prenatal care and patient outcomes.
