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Non‐Invasive prenatal testing with rolling circle amplification: Real‐world clinical experience in a non‐molecular laboratory

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Non‐invasive prenatal testing (NIPT) using cell‐free DNA (cfDNA) circulating in maternal blood provides a sensitive and specific screening technique for common fetal aneuploidies, but the high cost and workflow complexity… Click to show full abstract

Non‐invasive prenatal testing (NIPT) using cell‐free DNA (cfDNA) circulating in maternal blood provides a sensitive and specific screening technique for common fetal aneuploidies, but the high cost and workflow complexity of conventional methodologies limit its widespread implementation. A unique rolling circle amplification methodology reduces cost and complexity, providing a promising alternative for increased global accessibility as a first‐tier test.

Keywords: prenatal testing; rolling circle; non invasive; circle amplification; invasive prenatal

Journal Title: Journal of Clinical Laboratory Analysis
Year Published: 2023

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