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Is Nuchal Translucency of 3.0-3.4 mm an Indication for cfDNA Testing or Microarray? - A Multicenter Retrospective Clinical Cohort Study

2024-05-31Research article Open access
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dc.contributor.authorRybak-Krzyszkowska, Magda
dc.contributor.authorMadetko-Talowska, Anna
dc.contributor.authorSzewczyk, Katarzyna
dc.contributor.authorBik-Multanowski, Mirosław
dc.contributor.authorSakowicz, Agata
dc.contributor.authorStejskal, David
dc.contributor.authorTrková, Marie
dc.contributor.authorSmetanová, Dagmar
dc.contributor.authorSerafim, Sílvia
dc.contributor.authorCorreia, Hildeberto
dc.contributor.authorNevado, Julian
dc.contributor.authorAngeles Mori, Maria
dc.contributor.authorMansilla, Elena
dc.contributor.authorRutkowska, Lena
dc.contributor.authorKucińska, Agata
dc.contributor.authorGach, Agnieszka
dc.contributor.authorHuras, Hubert
dc.contributor.authorKołak, Magdalena
dc.contributor.authorSrebniak, Malgorzata Ilona
dc.date.accessioned2025-03-20T15:33:44Z
dc.date.available2025-03-20T15:33:44Z
dc.date.issued2024-05-31
dc.description.abstractIntroduction: This study aimed to evaluate the occurrence of clinically relevant (sub)microscopic chromosomal aberrations in fetuses with the nuchal translucency (NT) range from 3.0 to 3.4 mm, which would be potentially missed by cfDNA testing. Methods: A retrospective data analysis of 271 fetuses with NT between 3.0 and 3.4 mm and increased first trimester combined test (CT) risk in five cohorts of pregnant women referred for invasive testing and chromosomal microarray was performed. Results: A chromosomal aberration was identified in 18.8% fetuses (1:5; 51/271). In 15% (41/271) of cases, trisomy 21, 18, or 13 were found. In 0.7% (2/271) of cases, sex chromosome aneuploidy was found. In 1.1% (3/271) of cases, CNV >10 Mb was detected, which would potentially also be detected by genome-wide cfDNA testing. The residual risk for missing a submicroscopic chromosome aberration in the presented cohorts is 1.8% (1:54; 5/271). Conclusion: Our results indicate that a significant number of fetuses with increased CT risk and presenting NT of 3.0-3.4 mm carry a clinically relevant chromosomal abnormality other than common trisomy. Invasive testing should be offered, and counseling on NIPT should include the test limitations that may result in NIPT false-negative results in a substantial percentage of fetuses.por
dc.identifier.citationFetal Diagn Ther. 2024;51(5):453-462. doi: 10.1159/000539463. Epub 2024 May 31
dc.identifier.doi10.1159/000539463
dc.identifier.issn1015-3837
dc.identifier.pmid38815555
dc.identifier.urihttp://hdl.handle.net/10400.18/10451
dc.language.isoeng
dc.peerreviewedyes
dc.publisherKarger Publishers
dc.relation.hasversionhttps://karger.com/fdt/article/51/5/453/908238/Is-Nuchal-Translucency-of-3-0-3-4-mm-an-Indication
dc.rights.uriN/A
dc.subjectChromosomal Microarray
dc.subjectIncreased Nuchal Translucency
dc.subjectNoninvasive Prenatal Testing
dc.subjectPrenatal Diagnosis
dc.subjectGenética Humana
dc.subjectDoenças Genéticas
dc.titleIs Nuchal Translucency of 3.0-3.4 mm an Indication for cfDNA Testing or Microarray? - A Multicenter Retrospective Clinical Cohort Studypor
dc.typeresearch article
dspace.entity.typePublication
oaire.citation.endPage462
oaire.citation.issue5
oaire.citation.startPage453
oaire.citation.titleFetal Diagnosis and Therapy
oaire.citation.volume51
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85

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