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Trisomy 13 detection in the first trimester of pregnancy using a chromosome‐selective cell‐free DNA analysis method

20 Sept 2012

Abstract excerpt

OBJECTIVE: To assess the performance of chromosome-selective sequencing of maternal plasma cell-free DNA (cfDNA) in non-invasive prenatal testing for trisomy 13. METHODS: Two-phase case-control study on a single plasma sample per case. The first phase was used to optimize the trisomy 13 algorithm, which was then applied to a second dataset to determine the risk score for trisomy 13 by laboratory personnel who...

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Share to Genetic Syndromes and Imprinting
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PMID: 22996646
DOI: 10.1002/uog.12299

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