Pregnancy & prenatal testing

Pregnant Woman reads brochure on pregnancy

Pregnancy is the period of time when a fetus develops inside a woman's uterus and ends with the birth of the infant. The following pages contain information on some tests related to pregnancy that may be performed either to diagnose existing problems or screen for potential problems.

Preconception and first trimester

Preconception (pre-pregnancy) / first trimester (up to 12 weeks)

When planning a pregnancy it is important to consult a health care professional. They will discuss tests which are recommended for all women, and advise if any extra tests should be performed based on family and medical histories.

The following are some of the tests that may be recommended to a woman either when she is considering a pregnancy or at one of her first prenatal visits:

More information on preconception and prenatal testing can be obtained at:

Royal Australian and New Zealand College of Obstetricians and Gynaecologists (general)
Royal Australian and New Zealand College of Obstetricians and Gynaecologists (genetic)

NSW Centre for Genetics Education: Pregnancy information and testing

Human Genetics Society of Australasia: Policies and Statements

Healthdirect Australia: Pregnancy

NSW Centre for Genetics Education: Genetics Fact Sheets 
Australian Journal of General Practice (AJGP): Preconception care

Second and third trimester

Second trimester (13 – 27 weeks)
The tests performed during the second trimester provide information to evaluate both actual and potential medical problems in the baby. These tests may include:

Third trimester (28 weeks to delivery)
Testing during the third trimester period is primarily directed toward preparation for the birth of a healthy baby and reducing risk to the mother and may include:


Screening policy varies between states. Tests are performed to detect infants with metabolic illness, and genetic abnormalities, and, if applicable, to determine the maternal need for Rh(D) immunoglobulin. These may include screening tests for:

For further information: Newborn screening