the glossary of terms

The news of a congenital anomaly can come with a plethora of new health information, terms, tests and specialties to understand.

We are developing a glossary of all things prenatal diagnosis. This glossary will grow over time.

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The glossary of all things prenatal diagnosis

All | C D F G L M P R S
There are currently 2 words in this directory beginning with the letter S.
screening test
Antenatal/prenatal screening refers to tests that help determine the chance of an anomaly being present.

Screening tests such as tests like the NIPT (non-invasive prenatal screening test), the combined first-trimester screening and carrier screening provide families insight into their chance of a congenital anomaly/genetic condition based on a number of different factors. The results may suggest that there is a higher or lower chance but screening tests are not diagnostic tests. This means, when a screening test indicates a high chance of a congenital anomaly, parents may be offered diagnostic testing to check whether the baby has the anomaly or not.

Screening tests look for certain conditions but not all anomalies/conditions and each test has its limitations. It is important to know that screening is optional and that you feel comfortable with the decision you make. Some people may wish to have all the information they can about the health or genetics of their unborn baby, others may prefer to only receive information about certain conditions or wish to avoid uncertainty. Your antenatal care providers can provide you with more information or you can contact a genetic counselling service: 

Down Syndrome Australia, in conjunction with Qld Health and many collaboration organisations, prepared a comprehnesive website about prenatal screening. The site includes information for families and health professionals: 

MCRI produced resources to help parents make decisions about prenatal screening 


An allied health professional with specialised skills in the use of sonography (ultrasound).