ArticlePloS one2016
A Method to Quantify Cell-Free Fetal DNA Fraction in Maternal Plasma Using Next Generation Sequencing: Its Application in Non-Invasive Prenatal Chromosomal Aneuploidy Detection.
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 32 citations in OpenAlex.
- Mitochondrial DNA to genomic DNA ratio in embryo spent culture medium as a predictive marker for in vitro fertilization outcomes: a pilot study.Journal of assisted reproduction and genetics · 2026Article
- Evaluating non-invasive Preimplantation Genetic Testing for Aneuploidy (niPGT-A) from spent culture medium: prolonged embryo culture to day 6 increases informativity without negatively impacting quality and live birth rates.Journal of assisted reproduction and genetics · 2025Article
- Early fetal sex determination using a fluorescent DNA nanosensing platform capable of simultaneous detection ofHeliyon · 2024Article
- Identification of novel antiviral drug candidates using an optimized SARS-CoV-2 phenotypic screening platform.iScience · 2023Article
- Maternal and fetal factors influencing fetal fraction: A retrospective analysis of 153,306 pregnant women undergoing noninvasive prenatal screening.Frontiers in pediatrics · 2023Article
- Factors Affecting the Fetal Fraction in Noninvasive Prenatal Screening: A Review.Frontiers in pediatrics · 2022Review
- Efficiency of noninvasive prenatal testing for the detection of fetal microdeletions and microduplications in autosomal chromosomes.Molecular genetics & genomic medicine · 2020Article
- Article
- Fetal fraction and noninvasive prenatal testing: What clinicians need to know.Prenatal diagnosis · 2020Review
- An enrichment method to increase cell-free fetal DNA fraction and significantly reduce false negatives and test failures for non-invasive prenatal screening: a feasibility study.Journal of translational medicine · 2019Article
- Next-generation sequencing and its clinical application.Cancer biology & medicine · 2019Article
- Comparison of Efficiencies of Non-invasive Prenatal Testing, Karyotyping, and Chromosomal Micro-Array for Diagnosing Fetal Chromosomal Anomalies in the Second and Third Trimesters.Frontiers in genetics · 2019Article
- Enrichment of the fetal fraction in non-invasive prenatal screening reduces maternal background interference.Scientific reports · 2018Article
- Haplotype-based Noninvasive Prenatal Diagnosis of Hyperphenylalaninemia through Targeted Sequencing of Maternal Plasma.Scientific reports · 2018Article
- Article
- Development of a comprehensive noninvasive prenatal test.Genetics and molecular biologyArticle
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveThe fraction of circulating cell-free fetal (cff) DNA in maternal plasma is a critical parameter for aneuploidy screening with non-invasive prenatal testing, especially for those samples located in equivocal zones. We developed an approach to quantify cff DNA fractions directly with sequencing data, and increased cff DNAs by optimizing library construction procedure.
methodsArtificial DNA mixture samples (360), with known cff DNA fractions, were used to develop a method to determine cff DNA fraction through calculating the proportion of Y chromosomal unique reads, with sequencing data generated by Ion Proton. To validate our method, we investigated cff DNA fractions of 2,063 pregnant women with fetuses who were diagnosed as high risk of fetal defects. The z-score was calculated to determine aneuploidies for chromosomes 21, 18 and 13. The relationships between z-score and parameters of pregnancies were also analyzed. To improve cff DNA fractions in our samples, two groups were established as follows: in group A, the large-size DNA fragments were removed, and in group B these were retained, during library construction.
resultsA method to determine cff DNA fractions was successfully developed using 360 artificial mixture samples in which cff DNA fractions were known. A strong positive correlation was found between z-score and fetal DNA fraction in the artificial mixture samples of trisomy 21, 18 and 13, as well as in clinical maternal plasma samples. There was a positive correlation between gestational age and the cff DNA fraction in the clinical samples, but no correlation for maternal age. Moreover, increased fetal DNA fractions were found in group A compared to group B.
conclusionA relatively accurate method was developed to determine the cff DNA fraction in maternal plasma. By optimizing, we can improve cff DNA fractions in sequencing samples, which may contribute to improvements in detection rate and reliability.
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