Evidence map›Paper›PMID 40528522›Full record

ArticlePrenatal diagnosis2025

Chorionic Villus Sampling for Rapid Confirmation of High-Risk NIPT Results for Trisomy 21, 18, and 13.

Malgorzata I Srebniak, Marjolein Weerts, Marieke Joosten, Mark Drost, Robert Jan Galjaard, Vyne van der Schoot, Myrthe van den Born, Maarten F C M Knapen, Krista Prinsen, Jerome M J Cornette and 8 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Prenatal diagnosis, 2025. 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. 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

18 authors.

Malgorzata I SrebniakDepartment of Clinical Genetics, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands.ORCID 0000-0003-3429-6156
Marjolein WeertsDepartment of Clinical Genetics, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands.
Marieke JoostenDepartment of Clinical Genetics, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands.
Mark DrostDepartment of Clinical Genetics, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands.
Robert Jan GaljaardDepartment of Clinical Genetics, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands.
Vyne van der SchootDepartment of Clinical Genetics, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands.
Myrthe van den BornDepartment of Clinical Genetics, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands.
Maarten F C M KnapenDepartment of Obstetrics and Gynaecology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands.
Krista PrinsenDepartment of Obstetrics and Gynaecology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands.
Jerome M J CornetteDepartment of Obstetrics and Gynaecology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands.
Philip L J DeKoninckDepartment of Obstetrics and Gynaecology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands.ORCID 0000-0002-4457-0940
Dimitri PapatsonisDepartment of Gynecology, Amphia Hospital, Breda, the Netherlands.
Julia SpaanDepartment of Gynecology, Amphia Hospital, Breda, the Netherlands.
Anneke DijkmanDepartment of Obstetrics and Gynecology, Reinier de Graaf Gasthuis, Delft, the Netherlands.
Sabina de WeerdDepartment of Obstetrics and Gynecology, Albert Schweitzer Hospital, Dordrecht, the Netherlands.
Attie T J I GoDepartment of Obstetrics and Gynaecology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands.
Karin E M DiderichDepartment of Clinical Genetics, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands.ORCID 0000-0003-2637-9998
Diane Van OpstalDepartment of Clinical Genetics, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands.ORCID 0000-0002-3895-6775

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectivesInternational societies recommend amniocentesis (AC) after high-risk non-invasive prenatal testing (NIPT) because of potential inconclusive results from chorionic villus sampling (CVS) caused by placental mosaicism. Our study aimed to evaluate the necessity of confirmatory amniocentesis following CVS for trisomies 21, 18, and 13 with separate analysis of cytotrophoblast (CTB) and mesenchymal core (MC).

methodsWe retrospectively analyzed the confirmatory cytogenetic results between April 2017 and December 2022. CTB and MC were separated and analyzed by QF-PCR and/or SNP array, and karyotyping when needed.

resultsAmong 338 cases, 70% (237/339) of women underwent CVS (70.5%) and 30% (101/338) underwent AC. Mosaic trisomy in MC requiring additional amniocentesis was detected in 13.5% (5/37) of cases referred due to trisomy 13, 2.5% (4/158) of cases of trisomy 21% and 0% (0/42) of cases of trisomy 18.

conclusionsA definitive diagnosis of CVS was achieved in 97.5%, 100%, and 86.5% of patients with high-risk NIPT results for trisomy 21, 18, and 13, respectively. Moreover, our clinical practice confirms that the majority of pregnant women (70%) opted for CVS as a quick confirmatory test. We conclude that both CVS and AC can be offered when preceded by pre-test counseling on the risks of potential inconclusive results as calculated in this study.

Indexed as

Chorionic Villi SamplingDown SyndromeNoninvasive Prenatal TestingTrisomy 13 SyndromeTrisomy 18 SyndromeAdultAmniocentesisFemaleHumansMosaicismPregnancyRetrospective StudiesTrisomyamniocentesischorionic villi samplingCVSfollow‐up testNIPTnon‐invasive prenatal testprenatal diagnosis

Identifiers

PMID40528522
PMCPMC12254428

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.