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Test performance and clinical utility of expanded non-invasive prenatal test: Experience on 71,883 unselected routine cases from one single center.
Faieta, Monica; Falcone, Rossella; Duca, Sara; Corsetti, Elena; Giannico, Riccardo; Gigante, Laura; Diano, Laura; Calugi, Graziella; Spinella, Francesca; Pizzuti, Francesca.
Afiliação
  • Faieta M; Department of NIPT, Eurofins Genoma Group, Rome, Italy.
  • Falcone R; Department of NIPT, Eurofins Genoma Group, Rome, Italy.
  • Duca S; Department of Genetic Counselling, Eurofins Genoma Group, Rome, Italy.
  • Corsetti E; Department of NIPT, Eurofins Genoma Group, Rome, Italy.
  • Giannico R; Department of NIPT, Eurofins Genoma Group, Rome, Italy.
  • Gigante L; Department of Bioinformatics, Eurofins Genoma Group, Rome, Italy.
  • Diano L; Department of Genetic Counselling, Eurofins Genoma Group, Rome, Italy.
  • Calugi G; Department of Genetic Counselling, Eurofins Genoma Group, Rome, Italy.
  • Spinella F; Department of Research and Development, Eurofins Genoma Group, Rome, Italy.
  • Pizzuti F; Department of Research and Development, Eurofins Genoma Group, Rome, Italy.
Prenat Diagn ; 44(8): 936-945, 2024 07.
Article em En | MEDLINE | ID: mdl-38686956
ABSTRACT

OBJECTIVE:

The balance between benefits and risks of discordant outcomes makes the Genome-Wide Non-Invasive Prenatal Test (GW-NIPT) controversial. This study aims to evaluate performance and clinical utility in a wide cohort of unselected clinical cases from a single center when a standardized protocol is applied and integrated with a secondary algorithm for data interpretation.

METHOD:

In 2 years, over 70,000 pregnant patients underwent GW-NIPT for fetal common trisomies, sex chromosome aneuploidies, rare autosomal aneuploidies, segmental abnormalities (CNVs ≥ 7 Mb) and microdeletions (CNVs < 7 Mb). All samples were uniformly processed with Veriseq NIPT Solution v2 and analyzed using all data metrics along with a home-made algorithm for sequencing data analysis. Results were retrospectively reviewed for clinical outcomes.

RESULTS:

Among 71,883 eligible cases including twin pregnancies, 1011 (1.4%) received a positive result and 781 were confirmed by invasive prenatal diagnosis. Clinical sensitivity ranged from 99.65% for common trisomy (T21, T18, T13) to 83.33% for microdeletions, while specificity remained high (99.98%) for each class of fetal abnormalities detected.

CONCLUSIONS:

Integrating a standardized protocol with an internal algorithm allowed discordant results to be reduced, yielding high accuracy. Observed reliability in detecting genome-wide chromosomal conditions reinforced the expanded NIPT utility in clinical practice.
Assuntos

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Teste Pré-Natal não Invasivo Limite: Adult / Female / Humans / Pregnancy Idioma: En Ano de publicação: 2024 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Teste Pré-Natal não Invasivo Limite: Adult / Female / Humans / Pregnancy Idioma: En Ano de publicação: 2024 Tipo de documento: Article