In general, preimplantation genetic diagnosis techniques can be divided into two large groups based on their purpose:
- Preimplantation genetic diagnosis or PGD
- is used to detect point mutations in the genetic material of embryos. These are usually mutations that cause serious inherited diseases, such as Fragile X syndrome, Huntington's disease, and muscular dystrophy.
- Preimplantation genetic screening or PGS
- also called screening for aneuploidies and consists of detecting alterations in the number or structure of chromosomes. The best known chromosomal disease is Down syndrome.
By Álvaro Martínez Moro B.Sc., M.Sc. (embryologist), Julio Martín (expert in clinical diagnostics), Miguel Dolz Arroyo M.D., Ph.D. (gynecologist), Xinxin Lin MD (gynecologist), Zaira Salvador B.Sc., M.Sc. (embryologist) and Cristina Algarra Goosman B.Sc., M.Sc. (psychologist).
Last Update: 02/25/2022