The detection and interpretation of chromosome abnormalities is part of the management and treatment of many illnesses and disorders, including mental health issues, prenatal defects, infertility, and malignancies, which include some leukaemias.
Cytogenetics, as a scientific discipline, draws its knowledge and techniques from both cytology (the study of cells) and genetics (the science of heredity) and this is reflected in the role. It requires the use of diagnostic screening methods, including cell culture and microscopy techniques.
The work of a clinical cytogeneticist falls into three main categories:
- the analysis of blood from patients with congenital abnormalities, learning difficulties, reproductive problems or sexual development problems;
- prenatal diagnosis of chromosomal abnormalities from amniotic fluid, chorionic villus and foetal cord blood samples;
- the analysis of bone marrow or blood samples to diagnose and manage suspected or known diseases of the blood, such as leukaemia.