Pregnancy causes rapid changes to your body. Laboratory tests assist your team to monitor your health, the baby's development, screen for preventable conditions and provide timely intervention if required. Most tests are routine for all pregnancies, whilst others depend on your medical history and symptoms or the baby's progress.
Genetic conditions are caused by changes in genes or threadlike pieces of DNA called chromosomes. Some health conditions present at birth are due to genetic conditions. Two types of testing for genetic conditions during pregnancy are screening and diagnostic tests. Most pregnancy guidelines advise offering screening tests to all pregnant women. The specific test offered will depend on gestational age, local practice and availability. You should discuss and understand the accuracy of screening tests before you choose to have them.
Pregnancy can be a worrying time for some, but it is important to remember that most people have healthy babies. Certain women, however, are more likely than average to have a child with a genetic problem, and these women may be offered an invasive procedure during the pregnancy to collect samples for prenatal diagnostic tests to detect certain genetic abnormalities. The offered invasive procedures may include amniocentesis, chorionic villus sampling and percutaneous umbilical blood sampling.
Genetic counselling is a healthcare service that helps women and couples understand how genes, inherited conditions and family history may affect a current or future pregnancy. It combines the advanced knowledge of the science of genetics and genomics with the art of caring and communicating information empathically.
Our genes (DNA) are organised into structures called chromosomes. Humans have 23 pairs of chromosomes. Most babies are born healthy, but a small number of babies will be born with a chromosomal abnormality that can affect their health. Some, but not all, chromosomal abnormalities can be detected by prenatal testing during pregnancy. There are two main types of prenatal tests, screening tests and diagnostic tests.
