prikaz prve stranice dokumenta Validity and Utility of Non-Invasive Prenatal Testing for Copy Number Variations and Microdeletions: A Systematic Review
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Scientific paper - Review paper
Validity and Utility of Non-Invasive Prenatal Testing for Copy Number Variations and Microdeletions: A Systematic Review
Journal of Clinical Medicine, 11 (2022), 12; 3350. https://doi.org/10.3390/jcm11123350
Zaninović, Luca; Bašković, Marko; Ježek, Davor; Katušić Bojanac, Ana

Institutional repository: Dr Med - University of Zagreb School of Medicine Digital Repository

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Zaninović, L., Bašković, M., Ježek, D. & Katušić Bojanac, A. (2022). Validity and Utility of Non-Invasive Prenatal Testing for Copy Number Variations and Microdeletions: A Systematic Review. Journal of Clinical Medicine, 11. (12). doi: 10.3390/jcm11123350

Zaninović, Luca, et al. "Validity and Utility of Non-Invasive Prenatal Testing for Copy Number Variations and Microdeletions: A Systematic Review." Journal of Clinical Medicine, vol. 11, no. 12, 2022. https://doi.org/10.3390/jcm11123350

Zaninović, Luca, Marko Bašković, Davor Ježek and Ana Katušić Bojanac. "Validity and Utility of Non-Invasive Prenatal Testing for Copy Number Variations and Microdeletions: A Systematic Review." Journal of Clinical Medicine 11, no. 12 (2022). https://doi.org/10.3390/jcm11123350

Zaninović, L., et al. (2022) 'Validity and Utility of Non-Invasive Prenatal Testing for Copy Number Variations and Microdeletions: A Systematic Review', Journal of Clinical Medicine, 11(12). doi: 10.3390/jcm11123350

Zaninović L, Bašković M, Ježek D, Katušić Bojanac A. Validity and Utility of Non-Invasive Prenatal Testing for Copy Number Variations and Microdeletions: A Systematic Review. Journal of Clinical Medicine [Internet]. 2022 June 10 [cited 2024 April 28];11(12). doi: 10.3390/jcm11123350

L. Zaninović, M. Bašković, D. Ježek and A. Katušić Bojanac, "Validity and Utility of Non-Invasive Prenatal Testing for Copy Number Variations and Microdeletions: A Systematic Review", Journal of Clinical Medicine, vol. 11, no. 12, June 2022. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:105:136071. [Accessed: 28 April 2024]

Metadata
Title (english)Validity and Utility of Non-Invasive Prenatal Testing for Copy Number Variations and Microdeletions: A Systematic Review
AuthorLuca Zaninović
AuthorMarko Bašković
AuthorDavor Ježek
AuthorAna Katušić Bojanac
Author's institutionUniversity of Zagreb
School of Medicine
(Department of Histology and Embryology)
Author's institutionUniversity of Zagreb
School of Medicine
(Department of Medical Biology)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Basic Medical Sciences
Cytology, Histology and Embryology
Abstract (english)
Valid data on prenatal cell-free DNA-based screening tests for copy number variations and microdeletions are still insufficient. We aimed to compare different methodological approaches concerning the achieved diagnostic accuracy measurements and positive predictive values. For this systematic review, we searched the Scopus and PubMed databases and backward citations for studies published between 2013 and 4 February 2022 and included articles reporting the analytical and clinical performance of cfDNA screening tests for CNVs and microdeletions. Of the 1810 articles identified, 32 met the criteria. The reported sensitivity of the applied tests ranged from 20% to 100%, the specificity from 81.62% to 100%, and the PPV from 3% to 100% for cases with diagnostic or clinical follow-up information. No confirmatory analysis was available in the majority of cases with negative screening results, and, therefore, the NPVs could not be determined. NIPT for CNVs and microdeletions should be used with caution and any developments regarding new technologies should undergo strict evaluation before their implementation into clinical practice. Indications for testing should be in correlation with the application guidelines issued by international organizations in the field of prenatal diagnostics.
Keywords (english)
Languageenglish
Publication typeScientific paper - Review paper
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleJournal of Clinical Medicine
Numberingvol. 11, no. 12, 3350
e-ISSN2077-0383
DOIhttps://doi.org/10.3390/jcm11123350
URN:NBNurn:nbn:hr:105:136071
Publication2022-06-10
ProjectNumber: KK.01.1.1.01.0008
Title (english): Reproduktivna i regenerativna medicina - istraživanje novih platformi i potencijala
Leader: Ana Katušić Bojanac
Jurisdiction: eu
Document URLhttps://www.mdpi.com/2077-0383/11/12/3350
Type of resourceText
Access conditionsOpen access
Terms of useLicence Attribution 4.0 International (CC BY 4.0) icon
Created on2022-12-05 11:59:03