What are the common genetic conditions that can be screened for using PGD?

Preimplantation genetic diagnosis (PGD) is primarily used to screen embryos for specific genetic conditions before implantation during IVF treatment. The most common genetic conditions screened by PGD include monogenic (single-gene) disorders such as cystic fibrosis, Huntington's disease, Tay-Sachs disease, sickle cell anemia, and thalassemia, as well as chromosomal abnormalities like aneuploidies and translocations (Sermon et al., 2004; Lee et al., 2017; Sullivan-Pyke and Dokras, 2018).

PGD is particularly valuable for couples known to be carriers of inherited genetic disorders or those with a family history of such conditions, enabling selection of embryos free from the specific pathogenic variants to reduce the risk of transmission to offspring ¹.

While UK fertility guidelines emphasize genetic counselling and testing before assisted reproduction techniques such as ICSI, they also highlight the importance of identifying specific genetic defects associated with infertility or inherited conditions to inform treatment decisions and the use of PGD ¹.

In summary, PGD is commonly applied to detect and prevent transmission of monogenic diseases and chromosomal abnormalities, thereby improving reproductive outcomes for at-risk couples (Sermon et al., 2004; Lee et al., 2017; Sullivan-Pyke and Dokras, 2018) and is supported by UK clinical practice recommendations for genetic assessment prior to fertility treatment ¹.