Screening tests are non invasive and indicate the likelihood of having a baby with Down syndrome (this is not a definitive diagnosis), they are often combined and referred to as First Trimester Screening.
Early Ultrasound or Nuchal Translucency
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.
A diagnostic test is the only definitive test to know if you a carrying a baby with Down syndrome.
There are two types of Diagnostic tests:
Chronic Villus Sampling (CVS) - from 11 weeks
Amniocentesis - from 15 weeks.
Both diagnostic tests are invasive procedures and involve a needle being inserted into the woman's abdomen or transvaginally so that cell samples can be taken to be examined. The risk of pregnancy loss or miscarriage following these tests are approximately 1 in 200 or 0.5%
Where testing is available?
Making decisions about what is best for you involves complex emotional and personal issues. 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 pregnancies. It is preferable to obtain a referral from your doctor or obstetrician to access genetic counselling.
Speak to your Doctor about where you can have a test For further information you can have genetic counselling. It is preferable to obtain a referral form 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