Preimplantation Genetic Testing (PGT)

Who may benefit from PGT?

PGT may be recommended for:

• Couples with a known inherited genetic condition or a carrier, such as thalassemia, sickle cell disease and certain inherited blood disorders
• Patients with a history of recurrent miscarriage
• Women of advanced maternal age
• Patients with repeated IVF failure
• Cases where there is a higher risk of chromosomal abnormalities, especially where there is a history of a chromosomal condition in a previous child

Types of PGT

How does PGT work?

PGT is performed as part of an IVF cycle. Once embryos are created and reach the appropriate stage of development in the laboratory, a few cells are carefully biopsied from selected embryos. These samples are then analyzed for the specific genetic or chromosomal condition being tested. Based on the results, embryos identified as suitable may be selected for transfer.

Examples of genetic disorders for which PGT may be considered in Saudi Arabia

• Sickle cell anemia
• Thalassemia
• Congenital glaucoma
• Bardet–Biedl syndrome
• Meckel–Gruber syndrome
• Organic acidemias
• Lysosomal storage disorders
• Retinal dystrophies
• Hereditary hearing loss
• Primary microcephaly
• Sanjad–Sakati syndrome
• Joubert syndrome
• Muscular dystrophy
• DeSanto–Shinawi syndrome
• Waardenburg–Shah syndrome
• Hirschsprung disease
• Wolf–Hirschhorn syndrome
• Progressive familial intrahepatic cholestasis (PFIC)
• Aicardi–Goutières syndrome
• Galactosemia
• Cystic fibrosis
• Other inherited genetic disorders (as clinically indicated)