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Full-Text Articles in Computer Sciences
Non-Invasive Prenatal Detection Of Trisomy 21 Using Tandem Single Nucleotide Polymorphisms, Sujana Ghanta, Michael Mitchell, Mary Ames, Mats Hidestrand, Pippa Simpson, Mary Goetsch, William Thilly, Craig Struble, Aoy Tomita-Mitchell
Non-Invasive Prenatal Detection Of Trisomy 21 Using Tandem Single Nucleotide Polymorphisms, Sujana Ghanta, Michael Mitchell, Mary Ames, Mats Hidestrand, Pippa Simpson, Mary Goetsch, William Thilly, Craig Struble, Aoy Tomita-Mitchell
Mathematics, Statistics and Computer Science Faculty Research and Publications
Background: Screening tests for Trisomy 21 (T21), also known as Down syndrome, are routinely performed for the majority of pregnant women. However, current tests rely on either evaluating non-specific markers, which lead to false negative and false positive results, or on invasive tests, which while highly accurate, are expensive and carry a risk of fetal loss. We outline a novel, rapid, highly sensitive, and targeted approach to non-invasively detect fetal T21 using maternal plasma DNA.
Methods and Findings: Highly heterozygous tandem Single Nucleotide Polymorphism (SNP) sequences on chromosome 21 were analyzed using High-Fidelity PCR and Cycling Temperature Capillary …