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Cell-free DNA screening for sex chromosome aneuploidies by non-invasive prenatal testing in maternal plasma

12 Mar 2020

Abstract excerpt

BACKGROUND: Non-invasive prenatal testing (NIPT) has been confirmed as the most accurate screening test for trisomies 21, 18, and 13. However, reports on NIPT performance in sex chromosome aneuploidies (SCA) based on real clinical data are still limited. METHODS: High-throughput massively parallel genomic sequencing (MPS) technique was used to screen for fetal SCAs as part of the research to determine the...

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Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Share to Prenatal Screening and Diagnostics
Share to Sexual Differentiation and Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 32190123
DOI: 10.1186/s13039-020-0478-5

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