Down’s Syndrome

down's syndrome

What is Down’s Syndrome?

Down’s syndrome is a genetic disorder caused by the presence of an extra copy of chromosome 21. It causes developmental and intellectual delay in the child. It is an incurable condition.

How is Down’s Syndrome detected?

A screening test and a diagnostic test is offered to all pregnant ladies for Down’s syndrome.

A screening test is a part of routine prenatal care, indicating the chance that a mother is carrying a baby with Down’s syndrome. They help in making a decision for a more specific diagnostic test. Screening test comprises of first trimester combined test and integrated screening test.

In the first trimester screening test, a blood test is done to measure the level of protein-A (PAPP-A) and pregnancy hormone. Another test is an ultrasound, nuchal translucency test which measures a specific area behind the neck. Abnormalities cause accumulation of more fluid in the neck tissue.

In the integrated screening test, the results of the above test and a quadruple screen which measures the level of pregnancy related substances: alpha fetoprotein, estriol, HCG and inhibin A are combined to estimate the risk that your baby has of Down’s syndrome.

It the test results turn out to be positive, one should consider more tests to confirm the diagnosis.

Diagnostic tests include Chorionic villus sampling (CVS) and amniocentesis. The former test is carried out in the first trimester between 10 to 13 weeks of pregnancy. In this test, cells are taken from the placenta and are used to analyze fetal chromosomes. In the latter, fluid surrounding the fetus is taken out by inserting a needle in the uterus of the mother which is then used to analyze the chromosomes of the fetus. This test is usually performed in the second trimester, after 15 weeks of pregnancy.

What should I do if the baby is diagnosed with Down’s Syndrome?

On learning that your baby has down syndrome, you might go through an emotional breakdown but the best antidote for getting away from the worries is information and support.

  • Ask about early intervention programs in nearby areas which help children with down syndrome to develop motor, lingual, social and self-help skills.
  • Learn about educational institutes for your child
  • Stay in contact with families dealing with the same issue
  • Encourage independence

The most important thing is expecting a bright future for them.

Have a safe pregnancy and for all pregnancy related information download Pregnancy Health, Diet and Fitness by Ango!