ArticleJournal of translational medicine2019
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.
Article in Journal of translational medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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Who cites it
36 citing papers in PubMed.
- Reappraising the topology of cell-free fetal DNA in maternal blood toward improved prenatal genetic diagnostics.Science advances · 2026Review
- In Silico Fragment Size Selection for Enhanced Fetal Fraction and Abnormality Origin Discernment Using Pair-End Sequencing of Maternal Plasma DNA.Journal of clinical laboratory analysis · 2026Article
- NIPT-based prenatal screening of maternal Xq28 copy number variations in a cohort of 80,371 pregnancies.Archives of gynecology and obstetrics · 2026Article
- The effect of iron treatment on fetal fraction according to gestational weeks in maternal anemia.Frontiers in medicine · 2026Article
- Prenatal Cell-Free DNA Screening With Fetal Enrichment Enables Sampling From 8 Weeks of Gestational Age.Clinical genetics · 2026Article
- Analysis of fetal fraction in non-invasive prenatal testing with low-depth whole genome sequencing.Heliyon · 2025Article
- Real-life implementation of prenatal cell-free DNA screening with in vitro fetal enrichment virtually eliminates the need for redraws and improves performance: A cohort study.Genetics in medicine open · 2025Article
- Analysis of Prenatal Diagnosis and Pregnancy Decisions of 767 Singleton Pregnancies With Positive Prenatal Cell-Free DNA Screening Results in Southwest China.Journal of pregnancy · 2025Article
- High platelet distribution width affects the detection of fetal fraction of cell-free DNA detected by non-invasive prenatal testing.American journal of translational research · 2025Article
- Noninvasive prenatal screening and diagnosis of two fetuses with Williams syndrome in a cohort of 19,607 pregnancies.Annals of medicine · 2024Article
- Radiation Biological Toximetry Using Circulating Cell-Free DNA (cfDNA) for Rapid Radiation/Nuclear Triage.Radiation research · 2024Article
- The performance evaluation of NIPT for fetal chromosome microdeletion/microduplication detection: a retrospective analysis of 68,588 Chinese cases.Frontiers in genetics · 2024Article
- Genetic diagnosis of a rare COL7A1 variant causing dystrophic epidermolysis bullosa pruriginosa through whole‑exome sequencing.Experimental and therapeutic medicine · 2023Article
- Combined fetal fraction to analyze the Z-score accuracy of noninvasive prenatal testing for fetal trisomies 13, 18, and 21.Journal of assisted reproduction and genetics · 2023Article
- White blood cell count affects fetal fraction and test failure rates in noninvasive prenatal screening.Frontiers in medicine · 2023Article
- Detecting mitochondrial mutations associated with aminoglycoside ototoxicity by noninvasive prenatal testing.Journal of clinical laboratory analysis · 2023Article
- Non-invasive Prenatal Testing in Pregnancies Following Assisted Reproduction.Current genomics · 2022Review
- A fetal fraction enrichment method reduces false negatives and increases test success rate of fetal chromosome aneuploidy detection in early pregnancy loss.Journal of translational medicine · 2022Article
- A novel method for extracting circulating cell-free DNA from whole blood samples and its utility in the non-invasive prenatal test.Prenatal diagnosis · 2022Article
- Validation of Non-Invasive Preimplantation Genetic Screening Using a Routine IVF Laboratory Workflow.Biomedicines · 2022Article
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Authors and funding
11 authors.
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Abstract
backgroundNoninvasive prenatal screening (NIPS) based on cell-free fetal DNA (cffDNA) has rapidly been applied into clinic. However, the reliability of this method largely depends on the concentration of cffDNA in the maternal plasma. The chance of test failure results or false negative results would increase when cffDNA fraction is low. In this study, we set out to develop a method to enrich the cffDNA for NIPS based on the size difference between cell-free DNA (cfDNA) of fetal origin and maternal origin, and to evaluate whether the new NIPS method can improve the test quality.
methodsWe utilized 10,000 previous NIPS data to optimize a size-selection strategy for enrichment. Then, we retrospectively performed our new NIPS method with cffDNA enrichment on the 1415 NIPS samples, including 1404 routine cases and 11 false negative cases, and compared the results to the original NIPS results.
resultsThe 10,000 NIPS data revealed the fetal fraction in short cfDNA fragments (< 160 bp) is significantly higher. By using our new NIPS strategy on the 1404 routine cases, the fetal fraction increased from 11.3 ± 4.2 to 22.6 ± 6.6%, and the new method performed a significant decrease of test-failure rate (0.1% vs 0.7%, P < 0.01). Moreover, in 45.5% (5/11) of the false negative cases, fetal trisomies were successfully detected by our new NIPS method.
conclusionsWe developed an effective method to enrich cffDNA for NIPS, which shows an increased success rate and a reduced chance of false negative comparing to the ordinary NIPS method.
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