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Non‐Invasive prenatal testing with rolling circle amplification: Real‐world clinical experience in a non‐molecular laboratory

BACKGROUND: Non‐invasive prenatal testing (NIPT) using cell‐free DNA (cfDNA) circulating in maternal blood provides a sensitive and specific screening technique for common fetal aneuploidies, but the high cost and workflow complexity of conventional methodologies limit its widespread implementation....

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Detalles Bibliográficos
Autores principales: Saidel, Matthew L., Ananth, Uma, Rose, Donna, Farrell, Cara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10156098/
https://www.ncbi.nlm.nih.gov/pubmed/36972484
http://dx.doi.org/10.1002/jcla.24870
Descripción
Sumario:BACKGROUND: Non‐invasive prenatal testing (NIPT) using cell‐free DNA (cfDNA) circulating in maternal blood provides a sensitive and specific screening technique for common fetal aneuploidies, but the high cost and workflow complexity of conventional methodologies limit its widespread implementation. A unique rolling circle amplification methodology reduces cost and complexity, providing a promising alternative for increased global accessibility as a first‐tier test. METHODS: In this clinical study, 8160 pregnant women were screened on the Vanadis system for trisomies 13, 18, and 21, and positive results were compared to clinical outcomes where available. RESULTS: The Vanadis system yielded a 0.07% no‐call rate, a 98% overall sensitivity, and a specificity of over 99% based on available outcomes. CONCLUSION: The Vanadis system provided a sensitive, specific, and cost‐effective cfDNA assay for trisomies 13, 18, and 21, with good performance characteristics and low no‐call rate, and it eliminated the need for either next‐generation sequencing or polymerase chain reaction amplification.