Evidence map›Paper›PMID 30044883›Full record

ArticlePloS one2018

Fast Temperature-Gradient COLD PCR for the enrichment of the paternally inherited SNPs in cell free fetal DNA; an application to non-invasive prenatal diagnosis of β-thalassaemia.

Stefania Byrou, G Mike Makrigiorgos, Agathoklis Christofides, Ioannis Kallikas, Thessalia Papasavva, Marina Kleanthous

Open access · goldAbstract read
In one paragraph

Article in PloS one, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
1.5field-weighted citation impact, top 15% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

6 citing papers in PubMed, 12 citations in OpenAlex.

  1. Article
  2. Article
  3. Non-invasive prenatal diagnosis (NIPD): current and emerging technologies.Extracellular vesicles and circulating nucleic acids · 2023
    Review
  4. Article
  5. Review
  6. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 3 institutions in 2 countries.

Stefania ByrouMolecular Genetics Thalassaemia Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
G Mike MakrigiorgosDepartment of Radiation Oncology, Division of Medical Physics & Biophysics, Dana Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts, United States of America.
Agathoklis ChristofidesMedical Centre Fetal Medicine Department, Archbishop Makarios III Hospital, Nicosia, Cyprus.
Ioannis KallikasUltrasound and fetal medicine centre, Nicosia, Cyprus.
Thessalia PapasavvaMolecular Genetics Thalassaemia Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.ORCID 0000-0001-9279-4810
Marina KleanthousMolecular Genetics Thalassaemia Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Cyprus Institute of Neurology and Genetics · CYArchbishop Makarios III Hospital · CYHarvard University · US

Funding

Maximum efficiency sequencing using nuclease-based mutation enrichment and digital barcodesR33CA217652 · NCI · DANA-FARBER CANCER INST · PI MAKRIGIORGOS, G. MIKE · 2017 to 2019
$1.3M
NCI NIH HHS R33 CA217652
6 · The paper itself

Abstract

objectiveTo develop a sensitive, specific, simple, cost-effective and reproducible platform for the non-invasive prenatal detection of paternally inherited alleles for β-thalassaemia. The development of such an assay is of major significance in order to replace currently-applied invasive methods containing inherent fetal loss risks.

methodsWe present a fast Temperature-Gradient Co-amplification at Lower Denaturation Temperature Polymerase Chain Reaction (fast TG COLD PCR) methodology for the detection of the paternally-inherited fetal alleles in maternal plasma. Two single-nucleotide polymorphisms (SNPs), rs7480526 (G/T) and rs968857 (G/A) that are located on the β-globin gene cluster and exhibit a high degree of heterozygosity in the Cypriot population were selected for evaluation. Seventeen maternal plasma samples from pregnancies at risk for β-thalassemia were analysed for the selected SNPs using the novel fast TG COLD PCR assay.

resultsUsing fast TG COLD PCR, the paternally inherited allele in cell free fetal DNA was correctly determined for all the 17 maternal plasma samples tested, showing full agreement with the Chorionic Villus Sampling (CVS) analysis.

conclusionsOur findings are encouraging and demonstrate the efficiency and sensitivity of fast TG COLD PCR in detecting the minor paternally-inherited fetal alleles in maternal plasma for the development of a NIPD assay for β-thalassaemia.

Indexed as

Paternal InheritancePolymorphism, Single NucleotideAllelesbeta-ThalassemiaCell-Free Nucleic AcidsFemaleGene FrequencyGenotyping TechniquesHumansPolymerase Chain ReactionPregnancyPrenatal DiagnosisSensitivity and SpecificityTemperatureCell-Free Nucleic Acids

Identifiers

PMID30044883
PMCPMC6059429
OpenAlexW2883597078

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.