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Confirmation rate of cell free DNA screening for sex chromosomal abnormalities according to the method of confirmatory testing

28 Aug 2020

Abstract excerpt

OBJECTIVE: To examine the positive predictive value (PPV) of cfDNA screening for sex chromosome aneuploidies (SCA) in a large series of over 90 000 patients. METHODS: Retrospective study based on samples that were sent to Cenata, a private laboratory which uses the Harmony Prenatal Test. The SCA high-risk results were stratified according to the method of diagnostic testing and according to karyotype result....

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Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Share to Genomic variations and chromosomal abnormalities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Prenatal Screening and Diagnostics

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PMID: 32804406
DOI: 10.1002/pd.5814

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