specialist genetic advice australia wide

prenatal testing

Urgent appointments are available.

Prenatal genetic testing looks for certain genetic or chromosome conditions during pregnancy. There are two main types offered in pregnancy:

Screening tests estimate the chance that your baby has a particular genetic condition.
Diagnostic tests involve an invasive procedure and can provide a more definitive answer about the condition being tested for.

Concerns during pregnancy can be stressful, and decisions may need to be made quickly. We provide timely, supportive and non-judgmental genetic advice when concerns arise because of prenatal screening or testing results, fetal structural or genetic differences, or a family history of a genetic condition.

Our doctors or genetic counsellors will explain the available information and testing options clearly, helping you make informed decisions that are right for you and your pregnancy.

Prenatal testing Brisbane and telehealth

NIPT

NIPT is a blood test available from 10 weeks of pregnancy, although testing from 11 weeks may reduce the chance of an inconclusive result due to insufficient placental DNA in the blood.

NIPT analyses small fragments of DNA from the placenta circulating in the mother’s bloodstream. It estimates the chance that the baby has Down syndrome or certain other chromosome conditions.

NIPT is a screening test, not a diagnostic test. If your result indicates a high chance of a chromosome condition, you will usually be offered diagnostic testing, such as chorionic villus sampling (CVS) or amniocentesis, to confirm the result.

prenatal Testing Brisbane and Telehealth

first trimester screening

The combined first trimester screen is an alternative to the NIPT. It is a prenatal screening test usually performed between 11 and 13 weeks of pregnancy. It combines an ultrasound measurement of the fluid at the back of the baby’s neck, known as the nuchal translucency, with hormone levels in the mother’s blood and her age.

Together, this information estimates the chance that the baby has Down syndrome or certain other chromosome conditions. It is a screening test and cannot provide a definite diagnosis. It is not as accurate as the NIPT.

Prenatal Testing Brisbane and Telehealth

chorionic villus sampling (CVS)

Prenatal testing using a combined first trimester screen is a screening test using ultrasound to measure the back of the baby’s neck (the nuchal fold). This measurement is combined with markers in the mother’s blood together with her age, to give a likelihood that the baby has Down syndrome or other certain chromosome changes.

Prenatal Testing Brisbane and Telehealth

amniocentesis

Amniocentesis is a diagnostic test usually performed from 15 weeks of pregnancy. It involves taking a small sample of the amniotic fluid surrounding the baby.

Cells within the fluid can be tested for chromosome conditions or a specific genetic condition. Amniocentesis may be offered following a high-chance screening result, an ultrasound finding, or when there is an increased chance of a particular condition because of personal or family history.

Urgent appointments are always available in pregnancy.