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Genetic Counseling and Management: The First Study to Report NIPT Findings in a Romanian Population

5 Jan 2022

Abstract excerpt

Background and Objectives: Non-invasive prenatal testing (NIPT) has been confirmed as the most accurate screening test for trisomies 21, 18, 13, sex chromosomes aneuploidies and several microdeletions. This study aimed to assess the accuracy of cell free DNA testing based on low-level whole-genome sequencing to screen for these chromosomal abnormalities and to evaluate the clinical performance of NIPT. Materials...

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PMID: 35056387
DOI: 10.3390/medicina58010079

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