The evolution of prenatal Whole Exome Sequencing: from cytogenetics to precision medicine

Abstract excerpt

Prenatal genetic diagnostics have undergone a remarkable transformation, progressing from early cytogenetic techniques such as karyotyping and fluorescence in situ hybridization (FISH) to chromosomal microarray analysis (CMA) and, most recently, whole exome sequencing (WES). WES has emerged as a groundbreaking tool, allowing for identifying single-gene mutations, small insertions and deletions, and other...

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