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.

Do you have a suggestion for a term we should include? Please complete the Glossary Suggestion form.

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The glossary of all things prenatal diagnosis

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There are currently 17 words in this directory
Refers to something being present before birth, such as a condition or anomaly that someone is born with rather than develops later in life.


diagnostic test
Diagnostic testing is different to screening and is used to determine whether an unborn baby has a congenital anomaly (such as a genetic condition) or gain more information after a structural anomaly was suspected through an ultrasound.

Diagnostic tests include genetic testing undertaken through chorionic villus sampling (CVS) or amniocentesis and may include ultrasound, fetal MRI and fetal echocardiography.

Like all diagnostic tests, there remain limitations to technology and knowledge. Diagnostic testing can provide answers, and will often also prompt more questions. It is important to discuss your concerns and questions with your antenatal care provider. You can also find a genetic counselling service through HGSA 


fetal MRI
Medical imaging of an unborn baby. For a fetal MRI a pregnant person will lay down, flat and still within an MRI machine which uses a strong magnet to create images.


An unborn baby that is over 8 gestational weeks of age.


genetic counselling
"Genetic counselling is a communication process, which aims to help individuals, couples and families understand and adapt to the medical, psychological, familial and reproductive implications of the genetic contribution to specific health conditions."


genetic counsellor
An allied health professional with specialised knowledge in genetics, genomics, counselling and health communication. See also Genetic Counselling. 


The time between conception and birth.


level 2 ultrasound
A term used to describe a detailed assessment of the anatomy of an unborn baby, often undertaken between 18 - 20 weeks and may be completed again if there is a clinical reason to do so, such as a suspected congenital anomaly.


maternal fetal medicine
A specialist team of health care providers that provide assessment, monitoring, treatment and information to parents who have complicated pregnancies.


mental health nurse
A health care professional who specialises in supporting people through distress or mental health challenges.

See the ACMHN Fact Sheet 'What is a Mental Health Nurse' for more (PDF).


A health care professional who specialises in the support of women and their families, through pregnancy, birth and the postpartum period.


MRI (Magnetic Resonance Imaging)
A type of medical imaging which uses strong magnets and electromagnetic waves to take pictures of inside the body.


"Pre-eclampsia is a serious medical condition that can occur after 20 weeks of pregnancy. It typically causes high blood pressure and can affect several of your body organs, including the liver, kidney and brain. If left untreated, it can lead to serious problems for you or your baby."

This term was suggested by a visitor to the website and the information was sourced from Health Direct. Please see their website for further information.


An allied health professional with specialised skills in the use of medical imaging technologies such as CT and MRI.


"A radiologist is a specialist medical doctor who has had postgraduate training in performing and interpreting diagnostic imaging tests, and carrying out interventional procedures or treatments, using X-ray, ultrasound, and magnetic resonance imaging equipment."


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).