Challenges and clinical implications of discordant non-invasive prenatal testing results: insights from two case studies
Year: 2025
Type: article
Study design: Case Report
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. This study aims to analyze the contributing factors and clinical implications of discordant NIPT results using two illustrative case studies. Two cases with discordant NIPT findings were examined. Case 1 involved unexplained fetal growth restriction with normal NIPT results, while Case 2 presented a false-positive NIPT result indicating trisomy 7. Both cases underwent invasive testing (amniocentesis) and comprehensive ultrasound evaluation. In Case 1, a chromosomal microdeletion (4p16.3) associated with Wolf-Hirschhorn syndrome was identified despite normal NIPT results. In Case 2, the suspected trisomy 7 was not confirmed by invasive testing, suggesting confined placental mosaicism or technical limitations as potential causes of discordance. Discordant non-invasive prenatal testing (NIPT) results may arise from biological factors, such as confined placental mosaicism or maternal conditions, or from technical constraints. These cases underscore the importance of invasive confirmatory testing and multidisciplinary counseling to ensure an accurate diagnosis and enable informed decision-making in prenatal care.
Source: Folia Medica
Language: English
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4415589450