At present over 7,000 genetic diseases have been discovered affecting about 1 in 100 pregnancies and most of these lead to miscarriage, birth defects, early death or disability. Some common diseases caused by a single gene defect include hereditary hearing loss, sickle cell anaemia and thalassemia.
Most people do not know they are carriers and sadly, each year millions of parents find out only when their child is born with a serious lifethreatening genetic disorder. Often there have been no previously affected family members and hence it comes as a great shock.
Our Vista Carrier Screening Test screens for 600 common single gene defect diseases. Testing is a very personal choice and our experts will help you decide whether is right for you.
Carriers are healthy individuals who nevertheless have a mutant version of a critical gene. If the results show that both prospective parents are carriers of a condition, they could choose to have IVF and screen their embryos, so that only healthy ones are implanted in the womb. Other options include genetic testing during pregnancy, or adoption. Couples armed with all the facts can then make informed choices about trying to conceive or not and testing during pregnancy.
The vast majority of screening tests are normal but if a screening test is positive, the result can help you to make informed decisions about trying to conceive or having preimplantation genetic diagnosis, about the management or the outcome of your pregnancy or about treatment for your baby after birth.
Click here to book a Pre-Pregnancy Consultation to discuss carrier screening.