Symptoms, Testing and Screening for Down Syndrome

Symptoms, Testing and Screening for Down Syndrome

Pregnancy Tips 2

What is Downs syndrome?

Downs syndrome is the commonest cause of a mentally not normal baby being born alive. It is associated with varying degrees of mental disability, and can be associated with heart defects and other physical abnormalities.

Over the years, the life expectancy of a person affected with Down syndrome has improved to over 50 years of age. But the quality of life, dependability, lack of social support groups in a country like India are factors influencing the decision of whether to continue pregnancy with a baby with Downs syndrome.

When can it be diagnosed?

Down syndrome can be diagnosed as early as12 weeks, i.e. 3rd month of pregnancy.

Who should be tested?

The routine screening test for Down syndrome in pregnancy is non-invasive & safe. Also, all pregnant women have a risk for having a baby with Down syndrome. Therefore, ALL women should be tested. The risk increases with age, and elder women have a higher risk of carrying a baby with Down syndrome.

What are the ways of testing for Down syndrome in pregnancy?  

There are 2 ways – routine screening, and diagnostic needle test.

All women should undergo the routine screening for Down syndrome – which involves combining the mother’s blood test (double/dual marker) along with the ultrasound at 12 weeks (commonly known as NT scan).

Sometimes, women may get a high risk after the above combined blood and ultrasound screening, and may then have to undergo a needle test to confirm the diagnosis of Down syndrome.

Recently, a simple, safe and efficient screening test has been introduced, which can aid diagnosis of baby’s Down syndrome in the mother’s blood sample alone. This is a highly specialised test, is expensive, and not yet available readily across the country.

With more mothers planning pregnancy in advanced age, Down syndrome screening is gaining importance, and all mothers should be aware of availability of this testing.
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