Evidence map›Paper›PMID 35456496›Full record

ArticleGenes2022

Comparative Genomic Hybridization to Microarrays in Fetuses with High-Risk Prenatal Indications: Polish Experience with 7400 Pregnancies.

Katarzyna Kowalczyk, Magdalena Bartnik-Głaska, Marta Smyk, Izabela Plaskota, Joanna Bernaciak, Marta Kędzior, Barbara Wiśniowiecka-Kowalnik, Marta Deperas, Justyna Domaradzka, Alicja Łuszczek and 34 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
4.6field-weighted citation impact, top 6% 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

8 citing papers in PubMed, 14 citations in OpenAlex.

  1. Article
  2. Article
  3. Prenatal multidisciplinary counseling for fetal congenital anomalies: A narrative review.International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics · 2025
    Review
  4. Article
  5. Article
  6. Article
  7. Article
  8. 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

44 authors at 6 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.ORCID 0000-0002-9533-3494
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.ORCID 0000-0002-7605-7412
Joanna BernaciakDepartment of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
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
Marta DeperasDepartment of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
Justyna DomaradzkaDepartment of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
Alicja ŁuszczekDepartment of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.ORCID 0000-0001-7004-8331
Daria DutkiewiczDepartment of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
Agata KozarDepartment of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
Dominika GradDepartment of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
Magdalena NiemiecDepartment of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.ORCID 0000-0002-5485-1607
Kamila ZiemkiewiczDepartment of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
Róża MagdziakDepartment 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.
Krystyna Jakubów-DurskaDepartment 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, pl. S. 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.ORCID 0000-0002-4919-6425
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
Tomasz RoszkowskiDepartment of Gynecology Oncology and Obstetrics, Medical Centre of Postgraduate Education (CMKP), Czerniakowska 231, 00-416 Warsaw, Poland.
Agnieszka Nawara-BaranSpecialist Gabinets Volumed, Zdrowa 1/3, 31-216 Krakow, Poland.
Agata RungeGenetic Department, Ludwik Rydygier Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University of Torun, 85-067 Bydgoszcz, Poland.
Anna Jakubiuk-TomaszukMedical Genetics Unit, Mastermed Medical Center, 15-302 Bialystok, Poland.
Anna KruczekGenetic Counselling Unit Kostyk and Kruczek, Henryka Wieniawskiego 64, 31-436 Krakow, Poland.
Ewa KostykGenetic Counselling Unit Kostyk and Kruczek, Henryka Wieniawskiego 64, 31-436 Krakow, Poland.
Grzegorz PietrasDepartment of Obstetrics and Perinatology, Medical University of Lublin, Jaczewskiego 8, 20-090 Lublin, Poland.
Janusz LimonPrenatal Unit, Medical University of Gdansk, Marii Sklodowskiej-Curie 3a, 80-210 Gdansk, Poland.
Jerzy ZwolińskiDepartment of Obstetrics, Hospital of St. Families in Warsaw, Madalinskiego 25, 02-544 Warsaw, Poland.
Karolina OchmanClinics and Medical Laboratories INVICTA, Genetics Clinic, Rajska 10, 80-850 Gdansk, Poland.
Tomasz SzajnerSpecialist Hospital Pro-Familia, Witolda 6B, 35-302 Rzeszow, Poland.
Piotr WęgrzynDepartment of Obstetrics, Perinatology and Gynaecology, Faculty of Health Sciences, Medical University of Warsaw, Zwirki i Wigury 63a, 02-091 Warsaw, Poland.ORCID 0000-0002-9876-8493
Mirosław Wielgoś1st Department of Obstetrics and Gynecology, Medical University of Warsaw, pl. S. Starynkiewicza 1/3, 02-015 Warsaw, Poland.
Maria SąsiadekDepartment of Genetics, Wroclaw Medical University, K. Marcinkowskiego 1, 50-368 Wroclaw, Poland.
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.
Medical University of Warsaw · PLPostgraduate School of Molecular Medicine · PLGdańsk Medical University · PLMedical University of Lublin · PLNicolaus Copernicus University · PLWroclaw Medical University · PL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The aim of this study was to determine the suitability of the comparative genomic hybridization to microarray (aCGH) technique for prenatal diagnosis, but also to assess the frequency of chromosomal aberrations that may lead to fetal malformations but are not included in the diagnostic report. We present the results of the aCGH in a cohort of 7400 prenatal cases, indicated for invasive testing due to ultrasound abnormalities, high-risk for serum screening, thickened nuchal translucency, family history of genetic abnormalities or congenital abnormalities, and advanced maternal age (AMA). The overall chromosomal aberration detection rate was 27.2% (2010/7400), including 71.2% (1431/2010) of numerical aberrations and 28.8% (579/2010) of structural aberrations. Additionally, the detection rate of clinically significant copy number variants (CNVs) was 6.8% (505/7400) and 0.7% (57/7400) for variants of unknown clinical significance. The detection rate of clinically significant submicroscopic CNVs was 7.9% (334/4204) for fetuses with structural anomalies, 5.4% (18/336) in AMA, 3.1% (22/713) in the group of abnormal serum screening and 6.1% (131/2147) in other indications. Using the aCGH method, it was possible to assess the frequency of pathogenic chromosomal aberrations, of likely pathogenic and of uncertain clinical significance, in the groups of cases with different indications for an invasive test.

Indexed as

Chromosome AberrationsFetusComparative Genomic HybridizationFemaleHumansMicroarray AnalysisPolandPregnancyaCGHCMAmicroarrayprenatal diagnosis

Identifiers

PMID35456496
PMCPMC9032831
OpenAlexW4224106149

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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.