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Article

Expanded noninvasive prenatal testing for fetal aneuploidy and copy number variations and parental willingness for invasive diagnosis in a cohort of 18,516 cases

14 Apr 2021

Abstract excerpt

BACKGROUND: Noninvasive prenatal testing (NIPT) has been wildly used to screen for common aneuplodies. In recent years, the test has been expanded to detect rare autosomal aneuploidies (RATs) and copy number variations (CNVs). This study was performed to investigate the performance of expanded noninvasive prenatal testing (expanded NIPT) in screening for common trisomies, sex chromosomal aneuploidies (SCAs), rare...

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Share to Fetal and Pediatric Neurological Disorders
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 33853619
DOI: 10.1186/s12920-021-00955-6

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