What is it?
Exome analysis
(massive sequencing)
Massive sequencing or next-generation sequencing (NGS) is a technology that allows us to sequence a patient’s whole exome, that is, all the coding regions of their genome, at an unprecedented speed. In addition, the cost of this technology is progressively decreasing, which now allows its implementation in clinical practice.
The use of this technology in the field of prenatal diagnosis has revolutionized the diagnosis of disorders with a Mendelian inheritance pattern because it allows us to study all the genes related to a certain ultrasound abnormality (for example, heart disease or skeletal dysplasia, etc.) in what we call directed or targeted exome analysis.
If a variant compatible with the observed ultrasound abnormalities is identified in the foetus, segregation studies will be carried out to determine its inheritance pattern and confirm the involvement of the variant in the phenotype observed in the foetus.
