A retrospective analysis of 6942 amniocentesis cases

This study establishes that a risk-stratified approach optimizes prenatal chromosomal diagnosis: combining maternal serum screening with NIPT enhances detection (PPV 94.59%), while karyotyping and CMA respectively address numerical and structural abnormalities. NIPT proves particularly valuable for advanced maternal age, whereas ultrasound anomalies necessitate CMA. Diagnostic yield remains significant across gestational ages, supporting tailored clinical pathways. These findings underscore the importance of integrating multiple modalities for comprehensive prenatal evaluation.