Pre-natal screening tests for Down syndrome are non-invasive and indicate the likelihood of having a baby with the condition. While not a definitive diagnosis, tests are often combined and referred to as First Trimester Screening. These include early ultrasound or Nuchal Translucency and Maternal Serum Screening Test (MSS or Triple Test).
An increased risk result does not mean the baby will definitely have Down syndrome. Most women in this group are not actually carrying a baby with Down syndrome but will be offered a diagnostic test which is the removal of a sample of cells to confirm.
If the result is not at increased risk that means the chance of having a baby with Down syndrome is less than 1 in 300. This does not, however, guarantee the absence of Down syndrome or another chromosomal disorder.
Where testing is available?
Making decisions about what is best for you is complex. You may find it helpful to discuss these with your partner, family, supportive friends, doctor or obstetrician. Your doctor can refer you to a genetic counsellor who can be helpful both during and after pregnancy. It is necessary to obtain a referral from your doctor or obstetrician to access genetic counselling.
Clinical Genetics Services SA – Womens & Childrens Hospital
72 King William Rd, North Adelaide SA 5006, Ph: 08 81617375 or Fax: 08 8161 6008