Challenges and clinical implications of discordant non-invasive prenatal testing results: insights from two case studies

Non-invasive prenatal testing (NIPT) has transformed prenatal screening, offering high sensitivity and specificity in the detection of common fetal aneuploidies. However, discordant results-where NIPT findings do not align with those of confirmatory diagnostics-pose challenges for clinical interpretation and patient counseling.

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Publication Details

Journal
Folia Medica
Published
2025-10-27
DOI
https://doi.org/10.3897/folmed.67.e142694
Primary Topic
Prenatal Screening and Diagnostics
Type
article
Field-Weighted Citation Impact
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article

Challenges and clinical implications of discordant non-invasive prenatal testing results: insights from two case studies

S. Galeva, Boris Stoilov, E Uchikova
Folia Medica
Prenatal Screening and Diagnostics
article

Challenges and clinical implications of discordant non-invasive prenatal testing results: insights from two case studies

S. Galeva, Boris Stoilov, E Uchikova
article en

Abstract

Non-invasive prenatal testing (NIPT) has transformed prenatal screening, offering high sensitivity and specificity in the detection of common fetal aneuploidies. However, discordant results-where NIPT findings do not align with those of confirmatory diagnostics-pose challenges for clinical interpretation and patient counseling.

Folia MedicaVol. 67(5)
Medical University Plovdiv (BG), Dr. Shterev Hospital (BG)
Openalex Percentile: Top 56%
Prenatal Screening and Diagnostics
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