Historically, the diagnosis of congenital and developmental anomalies has predominantly relied upon conventional cytogenetic techniques, such as Chromosomal Microarray Analysis (CMA) and Karyotyping. While effective in identifying chromosomal abnormalities, these methods may fail to elucidate the complex genetic determinants responsible for observed phenotypic variations. Advanced molecular techniques, such as Genome Sequencing (GS) and Exome Sequencing (ES), are complementary to these conventional cytogenetic modalities, offering a comprehensive understanding of molecular aberrations. The integration of traditional cytogenetic methodologies and molecular approaches has been shown to significantly enhance the precision of genetic diagnostics.
