ArticleScientific reports2018
Enrichment of the fetal fraction in non-invasive prenatal screening reduces maternal background interference.
Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 37 citations in OpenAlex.
- Reappraising the topology of cell-free fetal DNA in maternal blood toward improved prenatal genetic diagnostics.Science advances · 2026Review
- Characterization of Ultra-Short plasma Cell-Free DNA in maternal blood and its preliminary potential as a screening marker for preeclampsia.Molecular medicine (Cambridge, Mass.) · 2025Article
- Noninvasive Prenatal Paternity Testing: A Review on Genetic Markers.International journal of molecular sciences · 2025Review
- Lessons (to be) learned from liquid biopsies: assessment of circulating cells and cell-free DNA in cancer and pregnancy-acquired microchimerism.Seminars in immunopathology · 2025Review
- Non-invasive Prenatal Testing in Pregnancies Following Assisted Reproduction.Current genomics · 2022Review
- Genetic deconvolution of fetal and maternal cell-free DNA in maternal plasma enables next-generation non-invasive prenatal screening.Cell discovery · 2022Article
- Validation of Non-Invasive Preimplantation Genetic Screening Using a Routine IVF Laboratory Workflow.Biomedicines · 2022Article
- The impact of HBB-related hemoglobinopathies carrier status on fetal fraction in noninvasive prenatal screening.Prenatal diagnosis · 2022Article
- Droplet Digital PCR for Non-Invasive Prenatal Detection of Fetal Single-Gene Point Mutations in Maternal Plasma.International journal of molecular sciences · 2022Article
- At the dawn: cell-free DNA fragmentomics and gene regulation.British journal of cancer · 2022Review
- Non-invasive prenatal testing for autosomal recessive disorders: A new promising approach.Frontiers in genetics · 2022Article
- High-throughput fetal fraction amplification increases analytical performance of noninvasive prenatal screening.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Fetal fraction and noninvasive prenatal testing: What clinicians need to know.Prenatal diagnosis · 2020Review
- A Novel Graphic-Aided Algorithm (gNIPT) Improves the Accuracy of Noninvasive Prenatal Testing.BioMed research international · 2020Article
- Cell-Free Fetal DNA Increases Prior to Labor at Term and in a Subset of Preterm Births.Reproductive sciences (Thousand Oaks, Calif.) · 2020Article
- The Effect of Freezing on Non-invasive Prenatal Testing.Scientific reports · 2019Article
- Experimental factors are associated with fetal fraction in size selection noninvasive prenatal testing.American journal of translational research · 2019Article
- Sequencing of short cfDNA fragments in NIPT improves fetal fraction with higher maternal BMI and early gestational age.American journal of translational research · 2019Article
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Measurement of cell-free fetal DNA (cffDNA) is an indispensable process for non-invasive prenatal screening (NIPS). According to recent studies, cffDNA in maternal plasma can be enriched for various lengths of fragments, and a sufficient amount of cffDNA can effectively eliminate background interference on the part of maternal DNA. Therefore, we developed a simple and effective separation method, improved NIPS (iNIPS), that enriches the fetal fraction and improves the accuracy of NIPS for fetal aneuploid detection. We adopted a novel strategy to achieve enrichment of 125-135 bp cell-free DNA (cfDNA) by e-gel electrophoresis. To evaluate clinical performance, we compared NIPS and iNIPS results from 2153 retrospective clinical samples. Of the 22 samples with NIPS results of "no call", 17 samples were reclassified as "unaffected" (9 cases of chr13, 5 cases of chr18, and 3 cases of chr21); 2 samples remained classified as "no call" (1 case of chr18 and 1 case of chr21); and 3 samples were identified as T21 by iNIPS. The average increase in abundance of cfDNA fragments of 125-135 bp was 2.5 times, and the average decrease in maternal background interference was 1.3 times. On this basis, the detection of fetal aneuploidy was highly improved with the fetal fraction as low as 2%; iNIPS achieved 100% sensitivity and 99.90% specificity in retrospective samples.
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