One significant part of routine pregnancy care is the combined first trimester screening.  This test consists of 2 parts (an ultrasound examination and a blood test) that are performed in the 1st trimester to estimate the risk of fetal chromosomal abnormalities (too many or too few chromosomes).  This estimated risk is then used to determine if a further diagnostic test is required (however this is always the patient’s choice after appropriate counselling).  This test can be ordered by your GP or obstetrician involved in your care.  This test identifies fetuses with Down Syndrome 85-90% of the time, and often requires further tests to confirm the diagnosis.

The new test is called the NIPT (standing for non-invasive prenatal testing).  This is a blood test performed on the mother to look for the fetus’ DNA, which can accurately tell if the fetus is carrying certain genetic disorders.  It is estimated that this test will identify a fetus with Down Syndrome up to 99% of the time.  Unfortunately, this test is not currently subsidised by the government and has an out of pocket cost (usually around 400-500 dollars depending on the laboratory used [from 9/9/2019]).  Most doctors would also prefer an ultrasound to be performed around this time to look for any anatomical defects that may be able to be picked up early in the pregnancy.  This test DOES NOT replace more invasive tests such as amniocentesis or chorionic villous sampling, which may be required if there is a high likelihood of a chromosomal abnormality.  Please consult your health professional for more information.

https://ranzcog.edu.au/womens-health/patient-information-resources/prenatal-screening-for-chromosomal-and-genetic-con

https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/pregnancy-tests-maternal-serum-screening