Evidence map›Paper›PMID 33963417›Full record

ArticleEuropean journal of pediatrics2021

Genetic evaluation of newborns with critical congenital heart defects admitted to the intensive care unit.

Aleksandra Miletic, Jelena Ruml Stojanovic, Vojislav Parezanovic, Snezana Rsovac, Danijela Drakulic, Ivan Soldatovic, Marija Mijovic, Brankica Bosankic, Hristina Petrovic, Nikola Borlja and 4 more

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Article in European journal of pediatrics, 2021. 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
0.2field-weighted citation impact, top 52% 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

1 citing paper in PubMed, 4 citations in OpenAlex.

  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

14 authors at 3 institutions in 2 countries.

Aleksandra MileticDepartment of Clinical Genetics, University Children's Hospital, Belgrade, Serbia.
Jelena Ruml StojanovicDepartment of Clinical Genetics, University Children's Hospital, Belgrade, Serbia.
Vojislav ParezanovicFaculty of Medicine, University of Belgrade, Belgrade, Serbia.
Snezana RsovacDepartment of Pediatric and Neonatal Intensive Care, University Children's Hospital, Belgrade, Serbia.
Danijela DrakulicInstitute of Molecular Genetics and Genetic Engineering, University of Belgrade, Belgrade, Serbia.
Ivan SoldatovicInstitute for Medical Statistics and Informatics, Faculty of Medicine, University of Belgrade, Belgrade, Serbia.
Marija MijovicDepartment of Clinical Genetics, University Children's Hospital, Belgrade, Serbia.
Brankica BosankicDepartment of Clinical Genetics, University Children's Hospital, Belgrade, Serbia.
Hristina PetrovicDepartment of Clinical Genetics, University Children's Hospital, Belgrade, Serbia.
Nikola BorljaCentogene, Rostock, Germany.
Milena MilivojevicInstitute of Molecular Genetics and Genetic Engineering, University of Belgrade, Belgrade, Serbia.
Ana MarjanovicFaculty of Medicine, University of Belgrade, Belgrade, Serbia.
Marija BrankovicFaculty of Medicine, University of Belgrade, Belgrade, Serbia.
Goran CuturiloDepartment of Clinical Genetics, University Children's Hospital, Belgrade, Serbia. gcuturilo@gmail.com.ORCID http://orcid.org/0000-0003-2753-3096
University of Belgrade · RSUniversity Children's Hospital, Belgrade · RSCentogene (Germany) · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Rapid and efficient diagnostics is crucial for newborns with congenital heart defects (CHD) in intensive care unit (ICU) but is often challenging. Given that genetic factors play a role in 20-30% cases of CHD, it is likely that genetic tests could improve both its speed and efficiency. We aimed to analyze the utility of rapid and cost-effective multiplex ligation dependent probe amplification analysis (MLPA) for chromosomal analysis in newborns with critical CHD. One hundred consecutive newborns admitted with critical CHD to the ICU were included in the study. Those with normal MLPA findings were further tested by chromosomal microarray and clinical exome sequencing. Overall, pathogenic/likely pathogenic variants were determined in ten (10%) newborns by MLPA, three (3%) by chromosomal microarray, and three (3%) by clinical exome sequencing. The most common variant detected was deletion of 22q11.2 region.Conclusion: MLPA is fast and cost-effective analysis that could be used as the first-tier test in newborns with critical CHD admitted to the ICU. What is Known: • MLPA is an established method for chromosome analysis in patients with CHD, but detection rate in newborns with critical CHD is unknown. What is New: • Study suggests that detection rate of casual variants using MLPA in newborns with critical CHD is 10%.

Indexed as

Heart Defects, CongenitalGenetic TestingHumansInfant, NewbornIntensive Care UnitsMicroarray AnalysisMultiplex Polymerase Chain ReactionCongenital heart defectsIntensive care unitMLPA

Identifiers

PMID33963417
OpenAlexW3159223397

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.