@article{article_1632081, title={Genetic Insights from Chromosomal Microarray Analysis: The Predictive Role of Ultrasonography in High-Risk Pregnancies}, journal={Duzce Medical Journal}, year={2025}, DOI={10.18678/dtfd.1632081}, author={Kurtay, Sabri and Taşın, Cuma}, keywords={chromosomal microarray analysis, prenatal diagnosis, high-risk pregnancy}, abstract={Aim: This study aimed to investigate the predictive value of prenatal ultrasonography (USG) findings in detecting chromosomal abnormalities identified through chromosomal microarray analysis (CMA) in high-risk pregnancies.
Material and Methods: A retrospective analysis was conducted on 122 singleton high-risk pregnancies undergoing CMA between 2021 and 2022. High-risk status was based on advanced maternal age, abnormal screening results, USG anomalies, or relevant family history. A scoring system was applied to USG findings, assigning one point for each fetal system with an anomaly. CMA was performed as a first-tier test via amniocentesis. Maternal demographics, USG scores, CMA results, and pregnancy outcomes were recorded and analyzed.
Results: Abnormal CMA results were detected in 34 (27.9%) cases. Maternal age was significantly higher in the abnormal CMA group (median 32 years vs. 29 years, p=0.030). Among pregnancies with abnormal CMA results, the rates of continuation and termination were equal at 44.1% (n=15). USG anomalies were significantly more prevalent in patients with abnormal CMA results, particularly in the abdominal (OR=2.84, 95% CI=1.01-7.96, p=0.041) and skin (OR=5.85, 95% CI=1.63-21.03, p=0.006) systems. Higher USG scores were significantly associated with abnormal CMA results (p<0.001). The most common chromosomal abnormalities were deletions (n=20, 58.8%) and duplications (n=10, 29.4%).
Conclusion: USG findings, especially system-specific anomalies and elevated USG scores, are significantly associated with abnormal CMA results. Advanced maternal age is also a predictive factor. Integrating USG scoring with CMA may enhance the diagnostic value in prenatal genetic assessment. Multicenter prospective studies are needed to validate these findings and improve clinical application.}, number={Early Access}, publisher={Duzce University}