Screening Tests FTS or MSS

Screening tests do not tell you if your baby has Down Syndrome. Their purpose is to tell you if your fetus belongs to a low or high risk group. If the screening test shows that there is a high risk of your baby being affected, you will be offered a diagnostic test (see below) to confirm it. Screening tests are noninvasive; hence, there is no risk of miscarriage to the baby.

• First trimester screening (FTS) — This consists of a detailed ultrasound scan of your baby at 11-14 weeks gestation to measure the nuchal translucency (NT). NT is the skin at the back of your baby's neck (Figure 11.4). If this is increased above the normal range, most babies will still be normal although there is an increased risk of Down Syndrome, heart problem or rare genetic syndrome in some babies. Its accuracy is about 80%, and increases to 90% if maternal blood tests are done as well. This is known as integrated screening.

A result of 1 in 300 means that 299 out of 300 women with this particular test result will not have an affected baby, and only one will. As you can see, it is not a test for the presence of a Down Syndrome baby, but a way of comparing your chance of having one. So, a 40-year-old woman would be very reassured by a result of 1 in 800 and a 20-year-old woman may opt for amniocentesis if her result was 1 in 100 (Figure 11.5).

• Maternal serum screening (MSS) — This measures certain hormones in your blood to determine your risk. These hormones are called alpha-

1

Risk

in 100

1 In 290

1 in 2300 1 m 1600

<20 20-25 25-30 30-35 35-40 40-45

>45

Mother's age in years

Figure 11.3 Maternal age and the risk of Down Syndrome.

Figure 11.3 Maternal age and the risk of Down Syndrome.

Figure 11.4 Measuring Nuchal Translucency.

fetoprotein, human chorionic gonadotropin, with or without oestriol. Blood is taken at between 15-20 weeks gestation, and a risk value is calculated, individualized to your age. The result of the test is also expressed in terms of a risk assessment (e.g. 1 in 300).

Overall, about 6-7 out of 10 Down Syndrome babies will be detected by the serum screening. However, there will still be some that are undetected and will be born to mothers who have had a "low-risk" result.

These screening tests do not guarantee that the baby will be healthy. It only helps to screen for Down Syndrome. If the test result is "low risk", this means that the chance of having this condition is reduced.

Diagnostic Tests (Amniocentesis or Chorionic Villus Sampling)

These are tests that obtain cell samples from the baby and can tell you for sure if the baby is affected with Down Syndrome. It is only performed for high-risk cases detected on screening due to the inherent risks of miscarriage associated with these procedures.

The purpose of diagnosing this condition is to allow the couple the various options of whether to continue with the pregnancy or have an abortion.

IMPORTANT!

It must be clearly understood that the results of screening tests represent risks. Increased risk does not mean that the baby is affected and further diagnostic tests must be done. A low risk does not exclude the possibility of Down Syndrome or other abnormalities as the risk assessment does not detect all affected pregnancies.

• Amniocentesis — Down syndrome can be diagnosed early in pregnancy from 15-20 weeks of pregnancy by amniocentesis. This involves a very fine needle being passed into the womb, under ultrasound guidance, and sampling of the amniotic fluid (water bag) around the baby. It takes about 2-3 weeks for the results to be ready although rapid tests (PCR) can also be done within 3-5 days. Most women do not find it too uncomfortable and takes about 5-10 minutes as an outpatient procedure. There is a risk of 0.5% of a spontaneous miscarriage after the procedure, which usually happens within two weeks after the procedure.

• Chorionic villus sampling (CVS) — Chorionic villus sampling is another option that is performed even earlier at about 12 weeks of pregnancy. Like amniocentesis, it is also done under ultrasound guidance. A needle is inserted into the placenta to withdraw the cells through the abdomen or cervix. It allows earlier diagnosis and therefore reduces the anxiety of waiting. The risk of a miscarriage is similar to that of an amniocen-tesis.

Baby Has Long Nasal Bone Down Syndrome
Figure 11.5 Amniocentesis done under ultrasound guidance.
100 Pregnancy Tips

100 Pregnancy Tips

Prior to planning pregnancy, you should learn more about the things involved in getting pregnant. It involves carrying a baby inside you for nine months, caring for a child for a number of years, and many more. Consider these things, so that you can properly assess if you are ready for pregnancy. Get all these very important tips about pregnancy that you need to know.

Get My Free Ebook


Post a comment