Evidence map›Paper›PMID 29977923›Full record

ArticleBioMed research international2018

Noninvasive Prenatal Testing: Comparison of Two Mappers and Influence in the Diagnostic Yield.

Irene Gómez-Manjón, Ana Moreno-Izquierdo, Sonia Mayo, Marta Moreno-García, Aitor Delmiro, David Escribano, F Javier Fernández-Martínez

Abstract read
In one paragraph

Article in BioMed research international, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. Review
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

7 authors.

Irene Gómez-ManjónGenetics and Inheritance Research Group, Instituto de Investigación Hospital Universitario 12 de Octubre (i+12), Avda. de Córdoba s/n, Madrid 28041, Spain.ORCID 0000-0001-7137-1915
Ana Moreno-IzquierdoGenetics and Inheritance Research Group, Instituto de Investigación Hospital Universitario 12 de Octubre (i+12), Avda. de Córdoba s/n, Madrid 28041, Spain.
Sonia MayoGenetics and Inheritance Research Group, Instituto de Investigación Hospital Universitario 12 de Octubre (i+12), Avda. de Córdoba s/n, Madrid 28041, Spain.ORCID 0000-0002-5465-7783
Marta Moreno-GarcíaGenetics and Inheritance Research Group, Instituto de Investigación Hospital Universitario 12 de Octubre (i+12), Avda. de Córdoba s/n, Madrid 28041, Spain.
Aitor DelmiroDepartment of Biochemistry, Hospital Universitario 12 de Octubre, Avda. de Córdoba s/n, Madrid 28041, Spain.
David EscribanoFetal Medicine Unit, Department of Obstetrics and Gynaecology, Hospital Universitario 12 de Octubre, Avda. de Córdoba s/n, Madrid 28041, Spain.
F Javier Fernández-MartínezGenetics and Inheritance Research Group, Instituto de Investigación Hospital Universitario 12 de Octubre (i+12), Avda. de Córdoba s/n, Madrid 28041, Spain.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveThe aim of this study was to determine if the use of different mappers for NIPT may vary the results considerably.

methodsPeripheral blood was collected from 217 pregnant women, 58 pathological (34 pregnancies with trisomy 21, 18 with trisomy 18, and 6 with trisomy 13) and 159 euploid. MPS was performed following a manufacturer's modified protocol of semiconductor sequencing. Obtained reads were mapped with two different software programs: TMAP and HPG-Aligner, comparing the results.

resultsUsing TMAP, 57 pathological samples were correctly detected (sensitivity 98.28%, specificity 93.08%): 33 samples as trisomy 21 (sensitivity 97.06%, specificity 99.45%), 16 as trisomy 18 (sensibility 88.89%, specificity 93.97%), and 6 as trisomy 13 (sensibility 100%, specificity 100%). 11 false positives, 1 false negative, and 2 samples incorrectly identified were obtained. Using HPG-Aligner, all the 58 pathological samples were correctly identified (sensibility 100%, specificity 96.86%): 34 as trisomy 21 (sensibility 100%, specificity 98.91%), 18 as trisomy 18 (sensibility 100%, specificity 98.99%), and 6 as trisomy 13 (sensibility 100%, specificity 99.53%). 5 false positives were obtained.

conclusionDifferent mappers use slightly different algorithms, so the use of one mapper or another with the same batch file can provide different results.

Indexed as

High-Throughput Nucleotide SequencingAdolescentChromosome DisordersChromosomes, Human, Pair 18FemaleHumansPregnancyPrenatal DiagnosisSensitivity and SpecificitySoftwareTrisomy

Identifiers

PMID29977923
PMCPMC6011118

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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.