Children's HealthPregnancy

Down’s Syndrome Testing in Pregnancy

By April 26, 2019 June 5th, 2019 No Comments

During your pregnancy, lots of tests will be done on you to make sure that your baby is healthy. Something which is often tested for is Down’s Syndrome, a genetic disease which has a significant effect on the newborn’s life. Depending on your situation, different tests may be offered to you. This article will discuss these tests and what they involve.

First Trimester Screening for All Pregnant Women:

All women who engage with antenatal care will be offered the first trimester screening test. These are a set of risk-free tests which together can screen for Down’s Syndrome. This involves two blood tests (beta-HCG and PAPP-A) which can be taken from 9-13 weeks, and an ultrasound test which can be performed at 11-14 weeks. These three tests along with the age of the mother are used to calculate the risk of Down’s Syndrome. Combined, these tests pick up 90% of Down’s Syndrome pregnancies, although 5% of the time they may be falsely positive. If the risk of Down’s Syndrome is calculated to be high, diagnostic tests need to be performed to confirm the presence of Down’s Syndrome.

Diagnostic Tests:

These tests are used to confirm the presence of Down’s Syndrome. These may be performed because of a high risk screening test, or because the mother is considered to be at high risk because of her advanced age or family history of Down’s Syndrome, both of which are risks for the condition. Both of these tests carry a small risk of miscarriage, so some mothers may choose not to undergo the tests. The two tests which can be performed are:

Chorionic Villus Sampling:

  • A needle is inserted into the womb to take a sample of the lining of the pregnancy for genetic testing.

  • Can be performed relatively early, from 10-11 weeks

  • Carries a slightly higher risk of miscarriage: 1-2%


  • A needle is inserted into the womb to take a sample of the fluid in the womb for genetic testing

  • Can only be performed after 14 weeks, meaning the woman may have to wait longer to find out the results

  • Carries a lower risk of miscarriage at 0.5-1%

Non-Invasive Prenatal Testing:

A new test has recently been introduced, which involves using genetic testing on the mother’s blood to look for evidence of Down’s Syndrome in the child. This test is highly advantageous, as it only involves a simple blood test so does not carry the risk of miscarriage. It can also be performed earlier (from 10 weeks) and is highly accurate. Unfortunately, this test is not currently covered by the government, and so is currently quite expensive. Discuss with your doctor if this is something you are interested in.

What if my baby has Down’s Syndrome?

If the diagnostic tests come back positive, what to do next can be a very difficult decision for the mother and her family. Some may choose to end the pregnancy, in which case the doctor can arrange for a termination. Others may choose to continue the pregnancy, in which case more support may be required for the family. Either way, the decision is a difficult one and not one which should be taken lightly. If you need any support or counselling, you can always discuss with your GP or obstetrician, who would be happy to answer your questions.

If you are interested in learning more about this topic, feel free to book an appointment with one of our friendly doctors by booking online or contacting us by phone on 8269 6000.


National Institute of Health 2018, How do healthcare providers diagnose Down Syndrome [ONLINE] Available at: ((Accessed 1 Jun 2018)

Mayo Clinic 2018, Down Syndrome, [ONLINE] Available at: (Accessed 1 Jun 2018)

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