Genetic and Antenatal Testing Negligence

There are many genetic and antenatal tests available to expecting parents. Ultrasounds can be performed at any time during a pregnancy particularly if there are unusual symptoms such as vaginal bleeding or reduced foetal movements.

Not all tests are covered by Medicare, and some involve an out of pocket expense. No test is compulsory. No test, or combination of tests, will detect all birth defects or medical conditions. What is tested is the likelihood or probability, not certainty of some sort of foetal abnormality.

Before undergoing genetic and antenatal tests, think about what you will do if the result indicates a likelihood of abnormality.

Our health law team can provide expert advice and legal support regarding your testing options. You may have grounds for legal action if you or your baby is injured due to the negligent conduct of a test or failure by a health professional to act or follow up test results.

Guide to antenatal screening tests

First trimester combined screening test – blood test at 10-12 weeks of pregnancy and Ultrasound at 11-13 weeks. This test is used to reveal the likelihood of the baby being born with chromosomal changes including Down syndrome (trisomy 21) and Edwards syndrome (trisomy 18).

Non-invasive prenatal test (NIPT) – fragments of baby’s DNA taken from the mother’s blood stream at 10-12 weeks are analysed. This test is used to reveal the likelihood of the baby being born with chromosomal changes including Down syndrome (trisomy 21) Patau’s syndrome (trisomy 13), Edwards syndrome (trisomy 18) as well as sex chromosome abnormalities involving X and Y chromosomes.

NIPTs are not suitable for twins or multiple births. They are not covered by Medicare or private health insurance and require a GP or obstetrician referral.

Second trimester maternal serum screening test – a blood test at 14-20 weeks of pregnancy (ideally 15-17 weeks). This test is not as accurate as the combined first trimester test but can still detect increased risks of chromosomal alternations such as Down syndrome as well as neural tube defects such as spina bifida.

Guide to antenatal diagnostic tests

Diagnostic tests in the second trimester are invasive. They are more accurate than screening but still cannot guarantee a firm diagnosis. These tests carry a small risk of complications including infection, injury to the baby, and miscarriage.

They are usually performed if screening tests pick up a possible issue or for at risk pregnancies. Increased risks can be due to family history of an inherited disorder, an older mother, or where the mother have already given birth to a baby with chromosomal or other disorders.

Chorionic Villus Sampling (CVS) – a needle through the mother’s abdomen into the tissue that forms part of the placenta (chorionic villi) at 11-13 weeks of pregnancy.

Amniocentesis – a needle is used to withdraw amniotic fluid from the amniotic sac at 15 -16 weeks of pregnancy (no later than 20 weeks). The fluid’s cells are examined for abnormalities such as Down syndrome, cystic fibrosis and spina bifida