Validity and Utility of Non-Invasive Prenatal Testing for Copy Number Variations and Microdeletions: A Systematic Review

Znanstveni rad - Pregledni rad

• Autor: Luca Zaninović
• Autor: Marko Bašković
• Autor: Davor Ježek
• Autor: Ana Katušić Bojanac
• Autorova ustanova: Sveučilište u Zagrebu; Medicinski fakultet; (KATEDRA ZA HISTOLOGIJU I EMBRIOLOGIJU)
• Autorova ustanova: Sveučilište u Zagrebu; Medicinski fakultet; (KATEDRA ZA MEDICINSKU BIOLOGIJU)
• Znanstveno / umjetničko područje, polje i grana: BIOMEDICINA I ZDRAVSTVO; Temeljne medicinske znanosti; Citologija, histologija i embriologija

Sažetak (engleski)

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.

• Ključne riječi (engleski): cell-free DNA; copy number variation; microdeletion; molecular method; non-invasive prenatal testing; prenatal diagnosis; screening; validity
• Jezik: engleski
• Vrsta publikacije: Znanstveni rad - Pregledni rad
• Status objave: Objavljen
• Vrsta recenzije: Recenziran
• Verzija publikacije: Objavljena verzija rada (izdavačev PDF)
• Naslov časopisa: Journal of Clinical Medicine
• Brojčani podaci: vol. 11, br. 12, 3350
• e-ISSN: 2077-0383
• DOI: https://doi.org/10.3390/jcm11123350
• URN:NBN: urn:nbn:hr:105:136071
• Datum objave publikacije: 2022-06-10
• Projekt: Šifra: KK.01.1.1.01.0008; Naziv (engleski): Reproduktivna i regenerativna medicina - istraživanje novih platformi i potencijala; Voditelj: Ana Katušić Bojanac; Pravna nadležnost: eu; Financijer: MZO
• URL dokumenta: https://www.mdpi.com/2077-0383/11/12/3350
• Vrsta resursa: Tekst
• Prava pristupa: Otvoreni pristup
• Datum i vrijeme pohrane: 2022-12-05 11:59:03