Evidence map›Paper›PMID 33722255›Full record

ArticleMolecular cytogenetics2021

A placental trisomy 2 detected by NIPT evolved in a fetal small Supernumerary Marker Chromosome (sSMC).

Justyna Domaradzka, Marta Deperas, Ewa Obersztyn, Anna Kucińska-Chahwan, Nathalie Brison, Kris Van Den Bogaert, Tomasz Roszkowski, Marta Kędzior, Magdalena Bartnik-Głaska, Alicja Łuszczek and 3 more

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

Article in Molecular cytogenetics, 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
1.3field-weighted citation impact, top 19% 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, 5 citations in OpenAlex.

  1. 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

13 authors at 3 institutions in 3 countries.

Justyna DomaradzkaMedical Genetics Department, The Institute of Mother and Child, Kasprzaka 17A, 01-211, Warsaw, Poland. Justyna.domaradzka@imid.med.pl.ORCID http://orcid.org/0000-0003-3917-3358
Marta DeperasMedical Genetics Department, The Institute of Mother and Child, Kasprzaka 17A, 01-211, Warsaw, Poland.
Ewa ObersztynMedical Genetics Department, The Institute of Mother and Child, Kasprzaka 17A, 01-211, Warsaw, Poland.
Anna Kucińska-ChahwanDepartment of Obstetrics and Gynecology, Centre of Postgraduate Medical Education, Czerniakowska 231, 00-416, Warsaw, Poland.
Nathalie BrisonCentre for Human Genetics, KU Leuven, Herestraat 49, 3000, Leuven, Belgium.
Kris Van Den BogaertCentre for Human Genetics, KU Leuven, Herestraat 49, 3000, Leuven, Belgium.
Tomasz RoszkowskiDepartment of Obstetrics and Gynecology, Centre of Postgraduate Medical Education, Czerniakowska 231, 00-416, Warsaw, Poland.
Marta KędziorMedical Genetics Department, The Institute of Mother and Child, Kasprzaka 17A, 01-211, Warsaw, Poland.
Magdalena Bartnik-GłaskaMedical Genetics Department, The Institute of Mother and Child, Kasprzaka 17A, 01-211, Warsaw, Poland.
Alicja ŁuszczekMedical Genetics Department, The Institute of Mother and Child, Kasprzaka 17A, 01-211, Warsaw, Poland.
Krystyna Jakubów-DurskaMedical Genetics Department, The Institute of Mother and Child, Kasprzaka 17A, 01-211, Warsaw, Poland.
Joris Robert VermeeschCentre for Human Genetics, KU Leuven, Herestraat 49, 3000, Leuven, Belgium.
Beata Anna NowakowskaMedical Genetics Department, The Institute of Mother and Child, Kasprzaka 17A, 01-211, Warsaw, Poland.
KU Leuven · BEPostgraduate School of Molecular Medicine · PLMother and Child Foundation · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundNon-invasive prenatal testing (NIPT) is a rapidly developing and widely used method in the prenatal screening. Recently, the widespread use of the NIPT caused a neglecting of the limitations of this technology. CASE PRESENTATION: The 38-year-old woman underwent amniocentesis because of a high risk of trisomy 2 revealed by the genome-wide Non-Invasive Prenatal Test (NIPT). The invasive prenatal diagnosis revealed the mosaicism for a small supernumerary marker chromosome sSMC derived from chromosome 2. Interphase fluorescence in situ hybridization (FISH) on uncultured amniocytes revealed three signals of centromere 2 in 30% of the cells. GTG-banded metaphases revealed abnormal karyotype (47,XX,+mar[21]/46,XX[19]) and was confirmed by array comparative genomic hybridization (aCGH). Cytogenetic analyses (FISH, aCGH, karyotype) on fetal skin biopsies were performed and confirmed the genomic gain of the centromeric region of chromosome 2. In the placenta, three cell lines were detected: a normal cell line, a cell line with trisomy 2 and a third one with only the sSMC.

conclusionWhole-genome Non-Invasive Prenatal Testing allows not only the identification of common fetal trisomies but also diagnosis of rare chromosomal abnormalities. Especially in such cases, it is extremely important to perform not only NIPT verification on a sample of material other than trophoblast, but also to apply appropriate research methods. Such conduct allows detailed analysis of the detected aberration, thus appropriate clinical validity.

Indexed as

Array comparative genomic hybridizationFluorescence in situ hybridizationKaryotypingMosaicismNon-invasive prenatal testSmall supernumerary marker chromosome

Identifiers

PMID33722255
PMCPMC7962352
OpenAlexW3122292901

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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.