Clinical Genetics

The Department

Clinical Genetics encompasses the study of inherited diseases and birth defects/congenital disorders.

• It focuses on prenatal diagnosis and aims to prevent/reduce the incidence of such disorders.
• It aspires to improve the quality of life and prevent long-term complications in patients with congenital disorders.
• It offers counseling to members of the patient’s family who are at risk of developing the disease, given that a genetic diagnosis may potentially affect the entire family.

Conditions

The incidence of congenital disorders is around 2-4% in live embryos, while they account for 1/3 of admissions to children’s hospitals due to the complications that may develop.

Genetic services must be used prenatally to establish whether an embryo is affected. This assists the family in reaching the best possible decision based on the disorder and the features of the pregnancy (mother’s age, history of miscarriages, etc). Furthermore, suitable tests must be performed in subsequent pregnancies to ensure the birth of a healthy embryo to the extent possible.

Comprehensive management requires cooperation among clinical, cytogenetics and molecular biologists, genetics specialists and researchers, who work together as a team. Systematic management is required, which may reveal a disease prompted by:
• Autosomal dominant inheritance pattern
• Recessive inheritance pattern
• X-linked inheritance (dominant or recessive)
• Mitochondrial inheritance
• Multifactorial inheritance
• Random non-genetic event

Children referred to the Department suffer from:
• Autism
• Intellectual disabilities
• Congenital heart defects
• Deformities
• Poor weight gain or excessive growth
• Spasms
• Vision and/or hearing impairments
• Skin disorders

Colleagues or parents who are faced with genetic disorders may contact us for a consultation.