Thank you for your enquiry. It is difficult when these screening tests give you a statistic as a result and not something more definite. The good news is that this result is not unusual. It is also not unusual to find ‘spots’ on ultrasounds and these usually disappear or are much smaller at later ultrasounds. If the test returns an ‘increased risk’ result it not necessarily mean the baby has the particular condition. It is important to remember that a screening test only indicates an increased risk, not the presence of the disorder. To put this in perspective, only one out of every 50 babies who return an 'increased risk' test result for Down syndrome has the condition. At the same time, a 'low risk' result does not mean the unborn baby does not have the particular disorder, or some other type of birth defect. Subsequent testing, such as amniocentesis, is available and this is able to properly diagnose a genetic abnormality that may exist.
Conditions that are screened for include Down syndrome, neural tube defects (such as spina bifida) and Edward syndrome (Trisomy 18). It is important to realise that this testing only indicates an increased or low risk of a particular condition. It does not detect whether that condition is present. If the test suggests an increased risk, the pregnant woman can then decide whether or not to undertake further diagnostic tests. Generally, the test is performed between 15 and 18 weeks into the pregnancy. There is a slightly higher incidence of fetal abnormalities in assisted pregnancies.
In most cases, diagnostic testing will show that the unborn baby is fine. Occasionally, the baby does have the particular condition for which it was tested, such as Down syndrome. Genetic counselling is available parents to help them make informed decisions about the pregnancy. Your health care professionals and hospital can provide you with more information and services available to you.
<b>Things to remember:</b>
*The maternal serum screening test (MSS) is a blood test, performed on some pregnant women, that helps determine the risk of certain abnormalities that may affect their unborn child.
*MSS is available to all pregnant women who wish to undergo screening.
*In most cases identified as 'increased risk', the baby is normal.
*Conditions that can be flagged by MSS include Down syndrome, neural tube defects (such as spina bifida), and Edward syndrome.
*A 'low risk' result does not mean that the baby is definitely normal.
Edward syndrome is also known as Trisomy 18, because the person has three copies of chromosome 18 instead of two. Characteristics may include malformations of the neural tube, hands and feet.
<a href="http://www.nswmidwives.com.au/">NSW Midwives Association</a>
Note: This information is not designed to replace that of your health professional.