Down Syndrome & Chromosomal Screening

The team at SHORE FOR WOMEN are fully accredited by the Fetal Medicine Foundation (London, UK) and RANZCOG to perform nuchal translucency ultrasound and are highly experienced in offering prenatal screening. These tests estimate the risk that your baby is affected by a chromosomal problem, for example Down syndrome.

Nuchal Translucency Scan (combined 1st trimester screening)

This is the most common screening test performed worldwide. The test provides couples with a numerical probability of their baby having a major chromosomal abnormality (Down syndrome, Edwards syndrome or Patau syndrome). A specialised ultrasound scan is undertaken between 11-14 weeks and combined with a maternal blood test and age. The blood test measures 2 proteins (called hCG and PAPP-A) which are often abnormal in pregnancies affected by chromosomal problems. The ultrasound component is crucial and should be undertaken by a fetal medicine specialist or ultrasonographer who is certified in performing NT scanning.

The blood test takes 24-48 hours to process – ideally you should have the blood test 2 days before the ultrasound, so that we can discuss the results with you immediately after the scan. Overall, nuchal translucency screening detects 90% of chromosomal problems and can be offered in twin and triplet pregnancies.

Non-Invasive Prenatal Testing (NIPT)

This newer screening test is rapidly gaining popularity in Australia and internationally. The test simply involves a maternal blood test, which can be collected any time after 10 weeks gestation. Tiny fragments of your baby’s DNA are extracted from the woman’s blood and analysed for chromosomal problems. The NIPT test costs approximately AUD $450 and takes 5 working days to process.

NIPT is an advanced screening test and will detect 99.5% of cases of Down syndrome (not 100%). It is important that your due date is calculated by ultrasound scan prior to the NIPT test. NIPT can also be offered in twin pregnancies but these cases should be interpreted by a Fetal medicine specialist with expertise in prenatal screening.

Other options

Neither the NT or NIPT tests will detect 100% of chromosomal problems. Some couples want absolute certainty and may elect to have a CVS or amniocentesis. You can discuss these options with the team at SHORE FOR WOMEN. On the other hand, some couples make an informed decision not to undergo any prenatal screening due to personal or religious beliefs and we will support them in this decision.

Non Invasive Prenatal testing where does it fit in Dr Colin Walsh

Other Specialist Ultrasound Lists

  • Mater Hospital
  • North Shore Private Hospital
  • The University Of Sydney
  • Royal College Of Obstetricians and Gynaecologists