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The value of increasing sequencing depth for noninvasive prenatal screening for whole chromosomal aneuploidy

21 Jan 2025

Abstract excerpt

To evaluate the value of increasing sequencing depths of non-invasive prenatal testing (NIPT) for fetal chromosomal aneuploidies based on the semiconductor sequencing platform. This study recruited a cohort of 59,800 singleton pregnancies from Guangdong Women and Children Hospital between January 2015 and December 2020, including 48,018 cases of NIPT and 11,782 cases of expanded NIPT. Cell-free DNA from plasma...

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PMID: 39837955
DOI: 10.1038/s41598-025-87218-x

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