Down Syndrome is a genetic condition that is caused by the presence of an extra copy of the 21st chromosome in the genes, says K.V. Sridevi, president of the Society of Foetal Medicine, AP Chapter. The extra copy of the 21st chromosome causes physical and intellectual disabilities, she adds.
Dr. Sridevi noted in a statement issued on Wednesday, that March 21st is World Down Syndrome Day. It is observed to raise awareness about the condition and advocate for the rights, inclusion, and well-being of those affected by it.
Down Syndrome in babies can lead to health issues like heart defects, gut problems, vision problems, hearing and thyroid impairment, and intellectual disability. It’s a genetic condition with no cure, and getting the proper care early on can make a big difference to the affected persons’ quality of life.
A woman’s chances of giving birth to a child with Down Syndrome is much higher. While the chances for a 25-year-old woman to give birth to a child with the syndrome is 1 in 1,250, the risk increases to 1 in 100 when the woman is in her 40s. This is because older eggs have a greater risk of improper chromosome division.
Ultrasound and blood tests help in screening to identify high-risk women from low-risk. These tests are done as early as 11 weeks of pregnancy; once screening test reports show a high risk for Down Syndrome, it doesn’t mean the baby has a problem but needs further testing to confirm the diagnosis by CVS or Amniocentesis. These tests in pregnancy help doctors give couples a confirmed diagnosis early in pregnancy, which will help them make an informed choice, adds Dr. Sridevi
