Diagnostic Process & Options

Where screening results indicate a higher chance of Down syndrome or another chromosomal difference, pregnant people should be offered diagnostic testing.

Where a woman or pregnant person chooses to have a diagnostic test, the choice of test should be based on gestational age, the preference of the person and the suitability of the test for individuals. Health care providers should not presume that confirmation of a diagnosis would lead to a decision to terminate the pregnancy.

FACT SHEET – Prospective Parents – Diagnostic Options (1)

Prenatal Screening Support

Prenatal support and information can be accessed via the Down Syndrome Queensland online self-referral options – there is the ability for both prospective parents to self-refer and for Health care professionals to make a referral.

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Diagnostic Process Types

Diagnostic Process & Options Resources

Prenatal Screening Decision Aid - Murdoch Children’s Research Institute

This booklet, called “Your choice Prenatal screening tests in pregnancy”, explains all the various screening tests and procedures that may be offered during pregnancy.

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Diagnostic Process & Options Resources

Prenatal Screening and Testing brochure - Genetic Health Queensland

This patient brochure explains the range of screening and diagnostic testing that pregnant women may be offered.

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Diagnostic Process & Options Resources

Chorionic Villus Sampling or CVS (RANZCOG)

CVS is a medical procedure performed on a pregnant woman to take a small sample of cells from the placenta.

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Diagnostic Process & Options Resources

Amniocentesis (RANZCOG)

An amniocentesis is a medical procedure performed to sample the fluid around the baby in the uterus (womb). This fluid is collected using a needle inserted through the pregnant woman’s abdomen.

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