Certified Medical Magazine by WMA, ACSA, HON
FAQs
12
0

In what kind of cases is PGD being used?

By Julio Martín (expert in clinical diagnostics).
Last Update: 06/19/2023

PGD facilitates informed decision making and is increasingly being included as an option in genetic counselling.

The current objective is that it can reach any couple, if they so freely choose, and any hereditary pathology, as long as there is a clinical indication and it is possible to address its diagnosis technically.

For couples with a clinical history of monogenic disease, the main current indications are, among others, cystic fibrosis, spinal muscular atrophy, myotonic dystrophy (Steinert), fragile X syndrome and Huntington's disease.

Imagen: Some cases indicated for PGD

Regarding chromosomal analysis, the main indication is the embryo study due to the risk of aneuploidy in advanced maternal age, without forgetting the group of patients with a history of recurrent miscarriage and severe male factor.

 Julio  Martín
Julio Martín
Expert in clinical diagnostics
Expert in clinical and laboratory generic development. Development of new tests and analysis of single gene genetic disorders. Laboratory manager at IVIOMICS and currently working in the IGENOMIX laboratory.
Expert in clinical diagnostics. Expert in clinical and laboratory generic development. Development of new tests and analysis of single gene genetic disorders. Laboratory manager at IVIOMICS and currently working in the IGENOMIX laboratory.