Evidence map›Paper›PMID 34946970›Full record

ArticleGenes2021

Prenatal Diagnosis by Array Comparative Genomic Hybridization in Fetuses with Cardiac Abnormalities.

Katarzyna Kowalczyk, Magdalena Bartnik-Głaska, Marta Smyk, Izabela Plaskota, Joanna Bernaciak, Marta Kędzior, Barbara Wiśniowiecka-Kowalnik, Krystyna Jakubów-Durska, Natalia Braun-Walicka, Artur Barczyk and 12 more

Open access · goldAbstract read
In one paragraph

Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
0.9field-weighted citation impact, top 27% 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

7 citing papers in PubMed, 13 citations in OpenAlex.

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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

22 authors at 2 institutions in 1 country.

Katarzyna KowalczykDepartment of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.ORCID 0000-0002-9867-063X
Magdalena Bartnik-GłaskaDepartment of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
Marta SmykDepartment of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
Izabela PlaskotaDepartment of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
Joanna BernaciakDepartment of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.ORCID 0000-0001-9892-580X
Marta KędziorDepartment of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
Barbara Wiśniowiecka-KowalnikDepartment of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.ORCID 0000-0001-6533-3090
Krystyna Jakubów-DurskaDepartment of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
Natalia Braun-WalickaDepartment of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
Artur BarczykDepartment of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
Maciej GeremekDepartment of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.ORCID 0000-0002-6484-8751
Jennifer CastañedaDepartment of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
Anna Kutkowska-KaźmierczakDepartment of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.ORCID 0000-0001-5295-7363
Paweł WłasienkoDepartment of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
Marzena Dębska1st Department of Obstetrics and Gynecology Medical University of Warsaw, Plac Starynkiewicza 1/3, 02-015 Warsaw, Poland.ORCID 0000-0001-5695-889X
Anna Kucińska-ChahwanDepartment of Gynecology Oncology and Obstetrics, Medical Centre of Postgraduate Education (CMKP), Czerniakowska 231, 00-416 Warsaw, Poland.
Tomasz RoszkowskiDepartment of Gynecology Oncology and Obstetrics, Medical Centre of Postgraduate Education (CMKP), Czerniakowska 231, 00-416 Warsaw, Poland.
Szymon KozłowskiClinic of Obstetrics and Gynaecology, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.ORCID 0000-0002-5492-0676
Boyana MikulskaClinic of Obstetrics and Gynaecology, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
Tadeusz IssatClinic of Obstetrics and Gynaecology, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.ORCID 0000-0002-3647-3550
Ewa ObersztynDepartment of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
Beata Anna NowakowskaDepartment of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
Postgraduate School of Molecular Medicine · PLMedical University of Warsaw · PL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Congenital heart defects (CHDs) appear in 8-10 out of 1000 live born newborns and are one of the most common causes of deaths. In fetuses, the congenital heart defects are found even 3-5 times more often. Currently, microarray comparative genomic hybridization (array CGH) is recommended by worldwide scientific organizations as a first-line test in the prenatal diagnosis of fetuses with sonographic abnormalities, especially cardiac defects. We present the results of the application of array CGH in 484 cases with prenatally diagnosed congenital heart diseases by fetal ultrasound scanning (256 isolated CHD and 228 CHD coexisting with other malformations). We identified pathogenic aberrations and likely pathogenic genetic loci for CHD in 165 fetuses and 9 copy number variants (CNVs) of unknown clinical significance. Prenatal array-CGH is a useful method allowing the identification of all unbalanced aberrations (number and structure) with a much higher resolution than the currently applied traditional assessment techniques karyotype. Due to this ability, we identified the etiology of heart defects in 37% of cases.

Indexed as

DNA Copy Number VariationsChromosome AberrationsComparative Genomic HybridizationFemaleHeart Defects, CongenitalHumansPregnancyPrenatal DiagnosisSensitivity and SpecificityUltrasonography, Prenatalcongenital heart diseasesmicroarray

Identifiers

PMID34946970
PMCPMC8701951
OpenAlexW4200031059

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.