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Analysis of fetal fraction in non-invasive prenatal testing with low-depth whole genome sequencing

28 Dec 2024

Abstract excerpt

Background: The fetal fraction (FF) is a critical factor influencing the performance of non-invasive prenatal testing (NIPT). Different NIPT methods and sequencing depths can lead to distinct minimum FF thresholds for Trisomy 21 (T21). This study aims to analyze the minimum FF thresholds for detecting T21 in PCR-free NIPT using a low-depth whole genome sequencing method. Methods: A total of 71 non-pregnant women...

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Share to Fetal and Pediatric Neurological Disorders
Share to Genomic variations and chromosomal abnormalities
Share to Prenatal Screening and Diagnostics

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PMID: 39850426
DOI: 10.1016/j.heliyon.2024.e41563

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