Down syndrome refers to a condition where babies are born with an extra chromosome. It is a genetic disorder that is primarily caused due to abnormal cell division resulting in an extra genetic material from chromosome 21. Down syndrome testing can help detect such conditions in the foetus.

What is Down syndrome testing?

The screening for Down syndrome includes screening tests or diagnostic tests. Screening tests indicate the likely chances that a pregnant mother is carrying a baby with Down syndrome.

Diagnostic tests are done on children and are utilised to identify or diagnose whether a baby has Down syndrome. The screening test involves an ultrasound assessment of the mother's foetus for nuchal translucency or NT.

When is Down syndrome testing recommended?

Down syndrome is a condition that people are born with. It is a genetic disorder. Doctors can test for Down syndrome. The test is done by taking a blood sample. The test can be done as early as 10 weeks of pregnancy. Doctors recommend that the test be done at 10 weeks of pregnancy.

What is the procedure for Down syndrome testing?

There are different ways to test for Down syndrome. The experts do some tests that you can do at home and other tests that you need to go to a diagnostic centre. Sometimes they do blood tests at the doctor's office or the lab. To do a blood test, a nurse or doctor takes a sample of your blood and puts it in a tube or a vial. Then they send it to the lab for testing.

The mother needs to be under the supervision of a professional in the first trimester. The professional performs an ultrasound with the help of a device on the belly. This is a painless procedure as ultrasound uses the help of sound waves to make images of the unborn baby, which doctors later study to determine whether or not the foetus has Down syndrome.

Amniocentesis is a medical test to find out if a baby has Down syndrome. In amniocentesis, a doctor or nurse puts a needle inside the mother's belly. The needle goes through the mother's belly and into the uterus. Then the doctor or nurse takes some fluid out of the uterus. The fluid is tested to see if the baby has Down syndrome.

Possible results of Down syndrome testing

The possible results of the Down syndrome testing can be two, a positive screening result or a negative or normal screening result.

Positive result: A positive result indicates that the unborn foetus has a chance of being born with Down syndrome. Even though the results are not always absolute, there is a higher-than-average chance of the baby being born with the syndrome.

Negative result: A negative result is happy news for the parents as it shows that the baby has no evidence of Down syndrome and will be born healthy, devoid of any disorders. However, as the positive results can turn out to be false, sometimes the negative or normal screening test results also do not guarantee that the baby will not be born with Down syndrome. Irrespective of such cases, the test guarantees maximum accuracy in most cases of pregnancy.

Conclusion

A Down syndrome screening test can help one rule out the chances of abnormalities in the foetus.

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1. Is the Down syndrome test risky?

Down syndrome test is safe and is recommended by gynaecologists to pregnant women. The test will not be a risk to the pregnancy.

2. How early can you confirm Down syndrome?

A Down syndrome screening is carried out within 11-14 weeks of pregnancy. The screening program can also be conducted within 15-20 weeks through a blood test. This blood test is referred to as the multiple marker serum screening test.

3. How accurate are first trimester Down's syndrome screening?

The Down syndrome screening tests are almost 85% accurate in predicting the pregnancy of women carrying a foetus suffering from Down syndrome However, about 5% of the results might show false positives.

4. What are the signs of Down syndrome during pregnancy?

A pregnant woman will not experience any Down syndrome symptoms while carrying the baby. A screening test is needed to test whether the foetus has any such anomaly.

5. What makes you a high risk for Down's syndrome babies?

Women above the age of 35 are at high risk and are more likely to have a pregnancy affected by Down syndrome. In many cases, younger women are also at risk of getting pregnant with a child suffering from Down syndrome. A screening test is recommended for pregnant mothers.