Chromosomal Microarray in Prenatal Diagnosis: A Single Center Experience From Türkiye

Abstract

Chromosomal microarray (CMA) is a powerful method for detecting copy number alterations and is regularly used to diagnose various genetic diseases. Numerous reports from different populations have documented the applicability of CMA in prenatal diagnosis. Nevertheless, such efforts are still needed to survey the pertinence of this method in the presence of clinical findings. Hence, the present study aims to record the results of CMA in a large Turkish cohort. The study consisted of 373 prenatal samples. CMA was performed on fetuses with various ultrasound (USG) abnormalities, family histories, or abnormal screening test results. Fetal anomalies were divided into groups according to USG findings. By CMA analyses, 18 patients (18/373; 4.8%) had 21 pathogenic variants. Seven of the 21 pathogenic variants were recurrent microdeletions or duplications, whereas 14 had unique breakpoints. This study emphasized the importance and effectiveness of CMA in prenatal diagnosis. It further highlighted that reporting the results, particularly in cases with a unique breakpoint, is essential for genetic counseling and management in prenatal cases.