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Just Right: Non-Invasive Prenatal Testing

Fisher, Olivia
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Abstract
Comparison Serum biochemical tests (SBT) for genetic prenatal screening are inexpensive; however, they are highly inaccurate and have a low positive detection rate. In contrast, Next-Generation Sequencing (NGS) based tests are highly accurate and sensitive, but at a high cost. Digital PCR prenatal testing (dPCR) is a blend of these advantages: sensitive, reliable, and cheap. Methods Existing dPCR was modified and improved with techniques including amplifying fetal DNA, sample dilution, expanded chromosomal targets, and comparative chromosome analysis. This allows the test to be more sensitive, accurate, and to provide reliable results in prenatal testing. The method of dPCR used in prenatal screening tests for fetal chromosomal count abnormalities by isolating fetal DNA in maternal blood and amplifying the DNA with a PCR with chromosome-specific primers. The DNA sample is diluted, and a dPCR is run, using a Z score to calculate chromosome ratios. Ethics Despite advances, prenatal screening must be approached carefully and responsibly to avoid reinforcing modern forms of eugenics that exclude those with disabilities.
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Date
1/1/2026
Student Status
First Year (Graduating in 2029)
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Poster
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Program/Major
Neuroscience
College/School
College of Arts and Sciences
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Life Science
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