Indore (Madhya Pradesh): Approximately three out of every 1,000 newborns in the Indore region are affected with Down Syndrome, a genetic disorder caused by the presence of an extra chromosome 21. This condition leads to developmental delays, cognitive challenges and in some cases, serious health complications.
This was disclosed in a study conducted under the Rashtriya Bal Swasthya Karyakram (RBSK).
The study focused on screening children under the National Rural Health Mission, aiming to assess the prevalence of 4Ds (defects at birth, diseases in children, deficiency conditions, and developmental delays including disabilities) in children below 18 years of age.
The data was collected from 14 districts in western Madhya Pradesh, with Indore and Ujjain randomly selected for detailed analysis, said Dr Ajit Singh Rajpoot. Findings revealed that the prevalence of birth defects among children screened was 2.48 and 1.56 per thousand in Indore and Ujjain districts respectively.
Dr Rajpoot, an occupational therapist, explained, “Down syndrome occurs when an extra chromosome alters normal development, leading to a range of physical, developmental and cognitive challenges. Early screening and medical support can help manage the condition effectively.”
Dr. Ria Sethi, also an occupational therapist, said, “Children with Down syndrome may have varied developmental challenges, ranging from mild to severe learning disabilities. Some also experience health complications like heart and gastrointestinal disorders. However, with the right support, they can lead fulfilling lives.”
Importance of early diagnosis
Medical professionals stress that prenatal screening can detect Down Syndrome in unborn babies. Tests such as ultrasounds and blood tests in the first trimester (11 to 14 weeks) and the multiple marker serum screening test (15 to 20 weeks) can indicate the likelihood of the condition. A definitive diagnosis can be made through tests like amniocentesis or chorionic villus sampling (CVS), which analyse foetal cells for chromosomal abnormalities.
What is Down syndrome
Down syndrome, also known as Trisomy 21, is a genetic disorder caused by an extra copy of chromosome 21. This additional genetic material affects physical growth, cognitive abilities and overall development.
How is it detected?
1. Prenatal screening: Blood tests and ultrasounds during pregnancy can indicate the likelihood of Down syndrome. 2. Diagnostic tests: Amniocentesis and CVS can confirm the condition by analysing foetal cells. 3. Postnatal diagnosis: Physical traits and a chromosomal analysis (karyotype test) help confirm the diagnosis after birth.
Major risk factors
* Maternal age: Women over 35 have a higher risk of having a baby with Down syndrome.
* Genetic factors: Parents carrying chromosomal translocations can pass on the condition.
* Previous child with Down syndrome: Having one child with the condition increases the chances in subsequent pregnancies.
* Inter-relation marriage or inter-bloodline marriage in which the person marries their relative belonging to another family.
A woman’s age, blood test results and foetal ultrasound measurements are all taken into account by each of these tests. These tests are useful, but they only provide detection rates of 80–90% for cases of Down syndrome. They cannot identify every case.”
-Dr Ria Sethi Occupational therapist
Early detection and improved healthcare have contributed to better understanding and support for those affected with Down syndrome in India.”
-Dr Ajit Singh Rajpoot Occupational therapist at MGM Allied Health Sciences Institute (MAHSI)
