Profiling genetic outcomes in high-risk pregnancies: invasive prenatal diagnostics from a tertiary maternal–fetal medicine unit

Aims: The objective of this study was to evaluate the indications, diagnostic yield, and impact on perinatal outcomes of invasive prenatal diagnostic methods performed at our tertiary care center and to demonstrate the contribution of karyotype and chromosomal microarray analysis (CMA) results to clinical decision-making processes in high-risk pregnancies. Methods: This retrospective study included a total of 230 pregnancies that underwent amniocentesis, chorionic villus sampling (CVS), or cordocentesis between 2022 and 2025. Indications for the procedures, karyotype and CMA findings, and perinatal outcomes were recorded. Cytogenetic and genomic results were classified as normal or abnormal, and their relationships with clinical variables were examined. Results: Amniocentesis was the most frequently performed invasive procedure in this study; the main indications were high risk in screening tests and structural anomalies. An abnormal karyotype was detected in 11.7% of the patients. CMA identified additional findings in 8.2% of karyotype-normal fetuses, mainly in those with structural anomalies. Pregnancy termination was more frequent in cases with severe genetic diagnoses. Conclusion: Invasive prenatal diagnostic procedures remain a key part of the evaluation of high-risk pregnancies. In our cohort, CMA identified clinically significant copy number variants in 8.2% of fetuses with normal karyotypes, particularly in those with structural anomalies. These findings reflect routine clinical practice and show how genetic results directly influence pregnancy management decisions.