There are many instances where our team of specialists undertakes cytogenetic studies at Liverpool Women’s. One of the most well known uses of cytogenetics is for the prenatal diagnosis of chromosomal abnormalities, such as Down’s Syndrome, where the presence of an extra chromosome 21 (trisomy 21) is associated with a range of abnormal features such as hypotonia, protruding tongue, single palmer crease, heart defects and intellectual and developmental delay.
Techniques such as amniocentesis and chorionic villus sampling are cultured and analysed to detect a variety of chromosomal abnormalities. It is also an essential tool for investigating children with delayed development or of an abnormal appearance and provides much-needed medical insight for couples with reproductive difficulties such as infertility or recurrent miscarriages.
Recurrent miscarriages can be caused by chromosomal abnormalities which may not affect the appearance or health of the person carrying them but may result in miscarriage or the birth of an abnormal child. One type of chromosome abnormality, which may have this effect, is a reciprocal translocation where two chromosomes break and swap segments.
Cytogenetics is also recognised by haematologists as critical to the study of leukaemia, where malignant cells often develop chromosomal abnormalities, a number of which are specific for particular types of leukaemia. Cytogenetics can therefore be useful in the diagnosis, the assessment of prognosis, and the monitoring of treatment in leukaemia.