The term monogenic diseases refers to diseases caused by mutations in a single gene.
Cystic fibrosis would be an example of a monogenic disease since this pathology is caused by a mutation in the CFTR gene. Other examples would be haemophilia or Fragile X syndrome. All these diseases can be prevented in offspring by performing a preimplantation genetic diagnosis.
Read the full article on: What is the procedure for pre-implantation genetic diagnosis? ( 62).
By Amel Khelifi Schreiber B.Sc., M.Sc., Ph.D. (embryologist), Antonio Alcaide Raya B.Sc., M.Sc., Ph.D. (senior embryologist), Gustavo Daniel Carti M.D. (gynecologist), Julio Martín (expert in clinical diagnostics), Zaira Salvador B.Sc., M.Sc. (embryologist) and Romina Packan (invitra staff).
Last Update: 06/19/2023
