https://www.degruyterbrill.com/document/doi/10.1515/jpm-2025-0005/html

Abstract

The advent of non-invasive prenatal testing (NIPT) utilizing cell-free fetal DNA (cfDNA) has transformed the landscape of early chromosomal anomaly detection. When paired with high-resolution ultrasound imaging, it establishes a robust framework for prenatal diagnostics. This study explores the efficacy of merging NIPT findings with detailed ultrasound markers to enhance the identification of both chromosomal and structural fetal abnormalities. Data from 190 cases demonstrated a cfDNA efficacy rate of 91.58 % (cfDNA ≥4 %) and a detection rate of 4.74 % for aneuploidies. The investigation delves into key findings for trisomies, monosomies, and physical malformations, backed by state-of-the-art diagnostic benchmarks. Markers such as nuchal translucency (NT), craniofacial characteristics, and cardiac irregularities were analyzed alongside genetic results. This integrative strategy significantly refines diagnostic precision, paving the way for personalized prenatal care and management.

Keywords: fetal aneuploidies; non-invasive prenatal testing (NIPT); fetal abnormalities; cfDNA