ArticlePloS one2015
A Non-Invasive Droplet Digital PCR (ddPCR) Assay to Detect Paternal CFTR Mutations in the Cell-Free Fetal DNA (cffDNA) of Three Pregnancies at Risk of Cystic Fibrosis via Compound Heterozygosity.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 44 citations in OpenAlex.
- Application of Digital Polymerase Chain Reaction (dPCR) in Non-Invasive Prenatal Testing (NIPT).Biomolecules · 2025Review
- Non-invasive prenatal diagnosis (NIPD): current and emerging technologies.Extracellular vesicles and circulating nucleic acids · 2023Review
- Non-invasive prenatal diagnosis (NIPD): how analysis of cell-free DNA in maternal plasma has changed prenatal diagnosis for monogenic disorders.Clinical science (London, England : 1979) · 2022Article
- Risk Minimization of Hemolytic Disease of the Fetus and Newborn Using Droplet Digital PCR Method for Accurate Fetal Genotype Assessment ofDiagnostics (Basel, Switzerland) · 2021Article
- A microfluidic alternating-pull-push active digitization method for sample-loss-free digital PCR.Lab on a chip · 2019Article
- Noninvasive prenatal screening test for compound heterozygous beta thalassemia using an amplification refractory mutation system real-time polymerase chain reaction technique.Hematology reports · 2019Article
- Principles of digital PCR and its applications in current obstetrical and gynecological diseases.American journal of translational research · 2019Review
- Current, Emerging, and Future Applications of Digital PCR in Non-Invasive Prenatal Diagnosis.Molecular diagnosis & therapy · 2018Review
- One-step noninvasive prenatal testing (NIPT) for autosomal recessive homozygous point mutations using digital PCR.Scientific reports · 2018Article
- Non-invasive prenatal diagnosis of spinal muscular atrophy by relative haplotype dosage.European journal of human genetics : EJHG · 2017Article
- From single-molecule detection to next-generation sequencing: microfluidic droplets for high-throughput nucleic acid analysis.Microfluidics and nanofluidics · 2017Article
- Prenatal maternal plasma DNA screening for cystic fibrosis: A computer modelling study of screening performance.F1000Research · 2017Article
- Development of novel noninvasive prenatal testing protocol for whole autosomal recessive disease using picodroplet digital PCR.Scientific reports · 2016Article
- Applicability of digital PCR to the investigation of pediatric-onset genetic disorders.Biomolecular detection and quantification · 2016Review
- Fetal Genotyping in Maternal Blood by Digital PCR: Towards NIPD of Monogenic Disorders Independently of Parental Origin.PloS one · 2016Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionNon-invasive prenatal diagnosis (NIPD) makes use of cell-free fetal DNA (cffDNA) in the mother's bloodstream as an alternative to invasive sampling methods such as amniocentesis or CVS, which carry a 0.5-1% risk of fetal loss. We describe a droplet digital PCR (ddPCR) assay designed to inform the testing options for couples whose offspring are at risk of suffering from cystic fibrosis via compound heterozygosity. By detecting the presence or absence of the paternal mutation in the cffDNA, it is possible to predict whether the fetus will be an unaffected carrier (absence) or whether further invasive testing is indicated (presence).
methodsWe selected a family in which the parents were known to carry different mutated CFTR alleles as our test system. NIPD was performed for three of their pregnancies during the first trimester (at around 11-12 weeks of gestation). Taqman probes were designed against an amplicon in exon 11 of the CFTR gene, to quantify the proportion of mutant (ΔF508-MUT; FAM) and normal (ΔF508-NOR; VIC) alleles at position c.1521_1523 of the CFTR gene. DISCUSSION: The assay correctly and unambiguously recognized the ΔF508-MUT CFTR allele in the cffDNA of all three proband fetuses and none of the six unaffected control fetuses. In conclusion, the Bio-Rad QX100 was found to be a cost-effective and technically undemanding platform for designing bespoke NIPD assays.
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