Genomic Diagnostics offers a wide range of genetic testing to assist clinicians in the period before and during the management of pregnancies. These tests can be used in planning pregnancy, investigating fertility, and monitoring both low risk and high risk pregnancies.
In pre-pregnancy, some genetic variants may affect fertility and the ability to conceive, in women as well as in men; examples include Turner Syndrome, chromosome translocations, Fragile X premutation carriers, and some cystic fibrosis carriers. Some patients may be interested in investigating their risk for specific genetic conditions (carrier testing).
During pregnancy, there are options for early non-invasive screening of whole chromosome gains and losses for known genetic syndromes, such as Down syndrome. We also offer complex diagnostic tests for the clinical investigation and management of high risk pregnancies when an invasive procedure (such as amniocentesis or chorionic villus biopsy) is needed. Appropriate testing for these tests should be arranged by the clinician in consultation with the laboratory. We believe that pre- and post-testing consultation between referring doctors and our genetic specialists is vital for a good patient outcomes, as it allows doctors to have a thorough understanding of possible outcomes of tests and allows them to advise their patients, and their families, appropriately.