ArticlePloS one2016
Could Digital PCR Be an Alternative as a Non-Invasive Prenatal Test for Trisomy 21: A Proof of Concept Study.
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 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 51 citations in OpenAlex.
- Potential efficacy of digital polymerase chain reaction for non-invasive prenatal screening of autosomal aneuploidies: a systematic review and meta-analysis.BMC pregnancy and childbirth · 2024Pooled it
- A Fetal Fraction Optimized 106-Plex Digital PCR Assay for Non-Invasive Prenatal Testing of Fetal Trisomy.Diagnostics (Basel, Switzerland) · 2026Article
- Scoping review: the current landscape of NIPT in South Africa.Journal of community genetics · 2025Review
- Application of Digital Polymerase Chain Reaction (dPCR) in Non-Invasive Prenatal Testing (NIPT).Biomolecules · 2025Review
- Rapid and Sensitive Digital Droplet PCR Assays for Detecting HPV16 DNA in Liquid Biopsies.Journal of medical virology · 2025Article
- Rapid non-invasive prenatal screening test for trisomy 21 based on digital droplet PCR.Scientific reports · 2023Article
- Next-Generation Digital Polymerase Chain Reaction: High-Dynamic-Range Single-Molecule DNA Counting via Ultrapartitioning.Analytical chemistry · 2022Article
- A dPCR-NIPT assay for detections of trisomies 21, 18 and 13 in a single-tube reaction-could it replace serum biochemical tests as a primary maternal plasma screening tool?Journal of translational medicine · 2022Article
- The Influence of Maternal Cell Contamination on Fetal Aneuploidy Detection Using Chip-Based Digital PCR Testing.Diagnostics (Basel, Switzerland) · 2021Article
- Development of a new methylation-based fetal fraction estimation assay using multiplex ddPCR.Molecular genetics & genomic medicine · 2020Article
- 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
- The Genomic Health of Human Pluripotent Stem Cells: Genomic Instability and the Consequences on Nuclear Organization.Frontiers in genetics · 2018Review
- The Role of BEAMing and Digital PCR for Multiplexed Analysis in Molecular Oncology in the Era of Next-Generation Sequencing.Molecular diagnosis & therapy · 2017Review
- Three-color crystal digital PCR.Biomolecular detection and quantification · 2016Article
Corrections and comments
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Authors and funding
14 authors at 9 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveNIPT for fetal aneuploidy by digital PCR has been hampered by the large number of PCR reactions needed to meet statistical requirements, preventing clinical application. Here, we designed an octoplex droplet digital PCR (ddPCR) assay which allows increasing the number of available targets and thus overcomes statistical obstacles.
methodAfter technical optimization of the multiplex PCR on mixtures of trisomic and euploid DNA, we performed a validation study on samples of plasma DNA from 213 pregnant women. Molecular counting of circulating cell-free DNA was performed using a mix of hydrolysis probes targeting chromosome 21 and a reference chromosome.
resultsThe results of our validation experiments showed that ddPCR detected trisomy 21 even when the sample's trisomic DNA content is as low as 5%. In a validation study of plasma samples from 213 pregnant women, ddPCR discriminated clearly between the trisomy 21 and the euploidy groups.
conclusionOur results demonstrate that digital PCR can meet the requirements for non-invasive prenatal testing of trisomy 21. This approach is technically simple, relatively cheap, easy to implement in a diagnostic setting and compatible with ethical concerns regarding access to nucleotide sequence information. These advantages make it a potential technique of choice for population-wide screening for trisomy 21 in pregnant women.
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Registered trials
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