Telomere length as a biomarker for fetal fraction prediction in non-invasive prenatal testing.
Non-invasive prenatal testing (NIPT) has revolutionized prenatal diagnostics by providing a safer alternative to invasive techniques such as amniocentesis and chorionic villus sampling. NIPT detects chromosomal abnormalities through the analysis of cell-free fetal DNA (cffDNA) in maternal plasma. On...
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| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
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Public Library of Science (PLoS)
2025-01-01
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| Series: | PLoS ONE |
| Online Access: | https://doi.org/10.1371/journal.pone.0327714 |
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| author | Zuzana Holesova Jaroslav Budis Marcel Kucharik Juraj Gazdarica Daria Carska Gabriel Minarik Michaela Hyblova Tomas Szemes |
| author_facet | Zuzana Holesova Jaroslav Budis Marcel Kucharik Juraj Gazdarica Daria Carska Gabriel Minarik Michaela Hyblova Tomas Szemes |
| author_sort | Zuzana Holesova |
| collection | DOAJ |
| description | Non-invasive prenatal testing (NIPT) has revolutionized prenatal diagnostics by providing a safer alternative to invasive techniques such as amniocentesis and chorionic villus sampling. NIPT detects chromosomal abnormalities through the analysis of cell-free fetal DNA (cffDNA) in maternal plasma. One of the critical factors influencing accuracy of NIPT is the fetal fraction (FF) - the proportion of fetal cell-free DNA relative to total cell-free DNA in maternal plasma. This study investigates the potential of using telomere length measurements as a novel biomarker for fetal fraction prediction in NIPT. Telomere-derived fragments, which differ between maternal and fetal DNA, may serve as a measure of FF due to the distinct telomere length. Specifically, deviations from the expected shorter telomere lengths of maternal DNA toward longer lengths could be more pronounced at higher FF levels. Various models incorporating telomere content and features selected by Ordinary Least Squares (OLS) were evaluated to enhance fetal fraction prediction. Our results showed that telomere content also works as an independent predictor (with Pearson correlation 0.23), yielding a small improvement in prediction precision when combined with traditional models. |
| format | Article |
| id | doaj-art-d0fbd52abd7e423b83b668bf1cc97180 |
| institution | DOAJ |
| issn | 1932-6203 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj-art-d0fbd52abd7e423b83b668bf1cc971802025-08-20T02:40:25ZengPublic Library of Science (PLoS)PLoS ONE1932-62032025-01-01207e032771410.1371/journal.pone.0327714Telomere length as a biomarker for fetal fraction prediction in non-invasive prenatal testing.Zuzana HolesovaJaroslav BudisMarcel KucharikJuraj GazdaricaDaria CarskaGabriel MinarikMichaela HyblovaTomas SzemesNon-invasive prenatal testing (NIPT) has revolutionized prenatal diagnostics by providing a safer alternative to invasive techniques such as amniocentesis and chorionic villus sampling. NIPT detects chromosomal abnormalities through the analysis of cell-free fetal DNA (cffDNA) in maternal plasma. One of the critical factors influencing accuracy of NIPT is the fetal fraction (FF) - the proportion of fetal cell-free DNA relative to total cell-free DNA in maternal plasma. This study investigates the potential of using telomere length measurements as a novel biomarker for fetal fraction prediction in NIPT. Telomere-derived fragments, which differ between maternal and fetal DNA, may serve as a measure of FF due to the distinct telomere length. Specifically, deviations from the expected shorter telomere lengths of maternal DNA toward longer lengths could be more pronounced at higher FF levels. Various models incorporating telomere content and features selected by Ordinary Least Squares (OLS) were evaluated to enhance fetal fraction prediction. Our results showed that telomere content also works as an independent predictor (with Pearson correlation 0.23), yielding a small improvement in prediction precision when combined with traditional models.https://doi.org/10.1371/journal.pone.0327714 |
| spellingShingle | Zuzana Holesova Jaroslav Budis Marcel Kucharik Juraj Gazdarica Daria Carska Gabriel Minarik Michaela Hyblova Tomas Szemes Telomere length as a biomarker for fetal fraction prediction in non-invasive prenatal testing. PLoS ONE |
| title | Telomere length as a biomarker for fetal fraction prediction in non-invasive prenatal testing. |
| title_full | Telomere length as a biomarker for fetal fraction prediction in non-invasive prenatal testing. |
| title_fullStr | Telomere length as a biomarker for fetal fraction prediction in non-invasive prenatal testing. |
| title_full_unstemmed | Telomere length as a biomarker for fetal fraction prediction in non-invasive prenatal testing. |
| title_short | Telomere length as a biomarker for fetal fraction prediction in non-invasive prenatal testing. |
| title_sort | telomere length as a biomarker for fetal fraction prediction in non invasive prenatal testing |
| url | https://doi.org/10.1371/journal.pone.0327714 |
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