Down Syndrome: Understanding the risks

While being home to a culturally heterogeneous population, India is also a crucible to genetic diversities. Alike other developing countries, India is experiencing an accelerating switch to non-communicable diseases. Genetic disorders are a major cause of morbidity and mortality in the cities. Due to the high birth rate in India, a very large number of infants with genetic disorders are born every year almost half a million with malformations and 21,000 with Down syndrome.

Some of the most common genetic disorder found in India are:

  • Down Syndrome
  • Thalassemia
  • Sickle Cell Anaemia
  • Cystic Fibrosis
  • Tay-Sachs

Down Syndrome
Down Syndrome, also known as Trisomy 21, occurs when an abnormal cell division results in an extra full or partial copy of chromosome 21.

Down Syndrome is one of the most common genetic disorders. The physical features and developmental changes occurring in this condition is due to the extra genetic matter. It takes two affected genes for Down Syndrome to occur in an individual.

The severity of this syndrome is different for every individual. Down Syndrome causes intellectual disability for life. It also hampers the growth and development of the affected.

Down Syndrome is the most common inherited chromosomal disorder, ruptures the learning abilities of the individual. Other medical abnormalities caused due to this include gastrointestinal and heart disorders.

A clear understanding of this disorder enables the parents and the caregivers of the affected to deal with the scenario tactfully, helping the affected individual live a fulfilling and quality life.

Individuals with Down Syndrome will have developmental and intellectual disabilities that may be mild, moderate, or severe. The ones with mild symptoms might be healthy otherwise but the ones with moderate or severe symptoms can go through serious heart issues.

Individuals with Down Syndrome have distinct features. Even though not all the affected individual will have similar features but the most common features are:

  • Short height
  • Flattened face
  • Small head
  • Short neck
  • Protruding tongue
  • Upward slanting eyelids (palpebral fissures)
  • Remarkably shaped or small ears
  • Poor muscle tone
  • Broad, short hands with a single crease in the palm
  • Comparatively short fingers and small hands and feet
  • Excessive flexibility
  • Tiny white spots on the coloured part (iris) of the eye called Brushfield’s spots

An infant with Down Syndrome is of normal size when born, but their growth rate slows down and is shorter than children of their age group.

Risk factors
Some couples are susceptible to the risk of having babies with Down Syndrome. The factors that higher the risk may include:

Advancing maternal age: Chances of a woman giving birth to a baby with Down Syndrome increases after the age of 35. This is because, the older the eggs get, the higher the chances are for them to divide the chromosomes improperly.

Being carriers of the genetic translocation for Down syndrome: Translocation means the genetic transfer of a part of a chromosome to another. This process results in the rearrangement of genes.

The male or the female can are capable to pass the genetic translocation for Down Syndrome to their children.

Having had a child with Down syndrome: Couples who have given birth to a child with Down Syndrome are more likely to have another baby with the same. It could also be possible if the parents themselves have a translocation.

The approach: Past and present
Earlier couples planning for pregnancy never had the scope to find out about the future and the health risks of their children. It was more about luck and hope that they can produce a healthy little one.

In those days, the lack of awareness made it very difficult for society to accept children born with Down Syndrome. The caregivers would also face a lot of trouble to deal with babies with such a condition. Not just that, in many cases the superstitious beliefs, even forced some couples to discard their new-borns right after they were born. Financial hassle also led to such tragic incidents.

Thanks to the rapid progress and more awareness, society is slowly changing its outlook towards kids with these disorders. With easy access to information and awareness programs, people are understanding the situation and are accepting those kids.

It has also become easier for parents and caregivers to deal with children. But that does not solve the problem completely because there still are people, communities who have shut their mental doors and refuse to accept the truth. The unfortunate events of discarding babies still prevail.

We are lucky to be a part of the era where science is making almost everything possible. Now it has enabled us to find out whether a couple is exposed to the risk of having a baby with genetic disorders.


Even though, there’s no way to prevent Down Syndrome. But Genetic Counselling and Testing services can help you assess the risks of having a baby with Down Syndrome. Depending on the results you can take your decision and plan the next steps.

Although it’s never too late to have genetic testing done, it is always a good idea to go for testing while you are planning to start or grow your family. In case you are already pregnant, 11 and 13 weeks of your pregnancy could be the best time for you to undergo testing and a genetic counsellor can guide you through the journey.

truGeny is India’s first telegenetic platform providing an end-to-end solution for Genetic Counselling and Testing services.

Our expert and certified genetic counsellors will help you in understanding your risks based on your health and family history. They will also help you decide if genetic testing is ideal for you. Once the test is conducted, our counsellors will explain the test results to you and guide you on the next steps. Choose a healthy future by being aware of your genes and your risk of passing on any condition to your future child. Learn with truGeny.

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