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Rachel V Thomas

World Down Syndrome Day 2026: AIIMS Doctor Shares Early Screening Tests To Eliminate Risks

World Down Syndrome Day: AIIMS Doctor Shares Early Screening Tests To Eliminate Risks

<a href="https://www.healthandme.com/health/down-syndrome">Down Syndrome</a> is a common genetic disorder in which an extra copy of chromosome 21 (Trisomy 21) causes mild-to-moderate intellectual disabilities, developmental delays, and characteristic physical traits.

Every year, World <a href="https://www.healthandme.com/health/down-syndrome">Down Syndrome</a> Day is observed on March 21 every year to raise public awareness about the condition, which deserves more than medical care.

The theme for World Down Syndrome Day 2026 is 'Together Against Loneliness,’ and it focuses on raising awareness of how loneliness disproportionately affects people with Down syndrome and other intellectual disabilities, as well as their families.

According to the UN data, the estimated incidence of Down syndrome is between 1 in 1,000 -- 1 in 1,100 live births worldwide. Each year, approximately 3,000 to 5,000 children are born with this chromosome disorder. 

In India, about 30,000 babies are born with Down syndrome every year. 

While Down Syndrome is not preventable, in a video post on the social media platform X, Dr. Neerja Gupta from AIIMS Delhi highlighted the importance of early detection, screening, and long-term support for better outcomes.

Dr. Gupta, Professor, Division of Genetics at AIIMS's Department of Pediatrics, also explained the causes of the condition and shared tests that can help eliminate the risks in future babies. 

“Down syndrome is a common chromosomal disorder in which chromosome 21 is present in three copies instead of two. Normally, every human cell has 46 chromosomes. However, in Down syndrome, there are 47 chromosomes because the 21st chromosome is present in three copies instead of two,” she said.

Due to the increase in the number of chromosomes, the child may:

<ul><li>presents with mild to moderate intellectual disability, </li><li>have problems related to the heart, </li><li>have problems of hearing, </li><li>have vision problems </li><li>have problems related to thyroid.</li></ul>However, if these children receive proper training during their early years, they can do very well.

"The sooner we can catch them, the earlier we can begin the intervention, resulting in better health outcomes," Dr Gupta said.

Down syndrome can occur in three types, depending on how the extra copy of chromosome 21 is present. In all cases, chromosome 21 appears in three copies, but this can happen in different ways.

<ul><li>Trisomy 21 -- the most common type, where all cells have three copies of chromosome 21.</li><li>Translocation -- when part of chromosome 21 is attached to another chromosome. In this, the recurrence risk increases in the next child.</li><li>Mosaic -- It occurs in about 1 percent of children with Down syndrome. In this type, there are two cell lines—some cells have the normal 46 chromosomes, while others have 47 chromosomes (with an extra copy of chromosome 21).</li></ul>

<h2>Down syndrome: Early Screening Tests</h2>Dr Gupta noted that the problem of Down syndrome is usually associated with the age of the mother.

"As the mother’s age increases, the risk of Down syndrome also increases. Today, there are several prenatal tests available to detect this condition during pregnancy," the expert said.

<ul><li>The chromosomal disorder can be identified by doing a chromosome test called Karyotyping.</li><li>The NT scan (Nuchal Translucency scan) is an important test done between 11 to 13 weeks. The ultrasound test measures fluid at the back of the baby’s neck. Increased thickness may indicate a higher risk of Down syndrome.</li><li>The Dual Marker Test -- a blood test done during early pregnancy (11–13 weeks), often in combination with the NT scan.</li><li>The quadruple test -- a blood test done during the second trimester (usually 15–20 weeks of pregnancy) to screen for chromosomal abnormalities.</li></ul>Dr Gupta said that in addition to these, there is a new technique called non-invasive prenatal testing, called NIPS.

"In this, the DNA is seen in the fetal baby's stomach through the mother's blood, to check whether the chromosomal copies are in the right number or not," she said. 

The expert noted that this screening test is highly accurate, but if the results indicate a high risk, diagnostic testing of the fetus is recommended.

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Down Syndrome is a common genetic disorder in which an extra copy of chromosome 21 (Trisomy 21) causes mild-to-moderate intellectual disabilities, developmental delays, and characteristic physical traits. Every year, World Down Syndrome Day is observed on March 21 every year to raise public awareness about the condition, which deserves more than medical care. The theme for World Down Syndrome Day 2026 is 'Together Against Loneliness,’ and it focuses on raising awareness of how loneliness disproportionately affects people with Down syndrome and other intellectual disabilities, as well as their families. According to the UN data, the estimated incidence of Down syndrome is between 1 in 1,000 -- 1 in 1,100 live births worldwide. Each year, approximately 3,000 to 5,000 children are born with this chromosome disorder. In India, about 30,000 babies are born with Down syndrome every year.  While Down Syndrome is not preventable, in a video post on the social media platform X, Dr. Neerja Gupta from AIIMS Delhi highlighted the importance of early detection, screening, and long-term support for better outcomes.  Dr. Gupta, Professor, Division of Genetics at AIIMS's Department of Pediatrics, also explained the causes of the condition and shared tests that can help eliminate the risks in future babies.  “Down syndrome is a common chromosomal disorder in which chromosome 21 is present in three copies instead of two. Normally, every human cell has 46 chromosomes. However, in Down syndrome, there are 47 chromosomes because the 21st chromosome is present in three copies instead of two,” she said.  Due to the increase in the number of chromosomes, the child may:presents with mild to moderate intellectual disability, have problems related to the heart, have problems of hearing, have vision problems have problems related to thyroid.However, if these children receive proper training during their early years, they can do very well. "The sooner we can catch them, the earlier we can begin the intervention, resulting in better health outcomes," Dr Gupta said. Types Of Down Syndrome Down syndrome can occur in three types, depending on how the extra copy of chromosome 21 is present. In all cases, chromosome 21 appears in three copies, but this can happen in different ways.Trisomy 21 -- the most common type, where all cells have three copies of chromosome 21.Translocation -- when part of chromosome 21 is attached to another chromosome. In this, the recurrence risk increases in the next child.Mosaic -- It occurs in about 1 percent of children with Down syndrome. In this type, there are two cell lines—some cells have the normal 46 chromosomes, while others have 47 chromosomes (with an extra copy of chromosome 21). Down syndrome: Early Screening TestsDr Gupta noted that the problem of Down syndrome is usually associated with the age of the mother. "As the mother’s age increases, the risk of Down syndrome also increases. Today, there are several prenatal tests available to detect this condition during pregnancy," the expert said.The chromosomal disorder can be identified by doing a chromosome test called Karyotyping.The NT scan (Nuchal Translucency scan) is an important test done between 11 to 13 weeks. The ultrasound test measures fluid at the back of the baby’s neck. Increased thickness may indicate a higher risk of Down syndrome.The Dual Marker Test -- a blood test done during early pregnancy (11–13 weeks), often in combination with the NT scan.The quadruple test -- a blood test done during the second trimester (usually 15–20 weeks of pregnancy) to screen for chromosomal abnormalities.Dr Gupta said that in addition to these, there is a new technique called non-invasive prenatal testing, called NIPS. "In this, the DNA is seen in the fetal baby's stomach through the mother's blood, to check whether the chromosomal copies are in the right number or not," she said. The expert noted that this screening test is highly accurate, but if the results indicate a high risk, diagnostic testing of the fetus is recommended.

world down syndrome day: aiims doctor shares early screening tests to eliminate risks

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World Down Syndrome Day 2026: AIIMS Doctor Shares Early Screening Tests To Eliminate Risks

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World Down Syndrome Day 2026: AIIMS Doctor Shares Early Screening Tests To Eliminate Risks

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