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학술대회자료

Non Invasive Prenatal Test by Next Generation Sequencing

Non Invasive Prenatal Test by Next Generation Sequencing

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A prenatal genetic and/or chromosomal abnormality test can be performed by a variety of invasive or non-invasive methods. The current invasive fetal diagnosis method such as amniocentesis or CVS is considered a golden standard for fetal genetic and aneuploidy testing, it involves not only risks and complications, but also the procedure is fairly expensive and complicate to perform. Non-invasive techniques include examinations of blood, plasma and serum for various analytes that can detect, predict and monitor diverse clinical conditions and outcomes of fetus. However, existing non-invasive prenatal tests such as serum screening shows a lack of high sensitivity and specificity for a reliable detection of informative signals due to an indirect measurement, low sample quantity and high background within the obtained sample.

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