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What is Down syndrome?

Each person has 23 pairs of chromosomes that contain genes. Genes are responsible for our appearance, character, health, and to a significant extent, our habits and preferences. If there is a defect in the genotype, it can have a profound impact on health and behavioral functions.

Trisomy is a condition in which there is a third, extra chromosome in one of the chromosomal pairs. This condition is referred to as Down syndrome.

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Frequently Asked Questions about Down Syndrome

Can Down syndrome be cured?

As of today, there are no medical methods that can remove the extra chromosome. However, the condition can be managed to achieve compensation, allowing the individual to function relatively normally. Children with Down syndrome have the potential to acquire all the necessary skills for social life. The key is for this potential to be uncovered in a timely manner by parents and educators.

Is Down syndrome hereditary?

Scientists currently identify three types of trisomy, with hereditary nature confirmed only in the translocation form of Down syndrome, accounting for approximately 4% of cases. No such dependency has been found for the other two types of trisomy - standard and mosaic.

If there is already a child with Down syndrome in the family, is there a risk of other children being born with the syndrome?

Such a risk exists if the translocation form of the syndrome is identified. In this case, parents should undergo genetic analysis and consult with a geneticist about potential risks.

Can Down syndrome be prevented?

Children with Down syndrome are born in different countries, among people of different skin colors, cultures, and religions. Therefore, it cannot be definitively predicted whether a child with Down syndrome will be born in a particular family. However, prenatal diagnosis can be performed to detect trisomy in the fetus early in pregnancy. In many cases, pregnancy is terminated if trisomy is detected.

Are there risk factors that contribute to the syndrome?

Such factors exist, but it cannot be guaranteed that they will necessarily lead to the birth of a child with Down syndrome. Prenatal diagnosis is the most reliable approach. Among the commonly mentioned risk factors is the age of parents: if the couple is over 35 years old, especially the woman, the risk increases. The risk is significantly higher if there are already children with Down syndrome in the family. In such cases, karyotyping analysis can be performed to determine the type of trisomy, and if it is the hereditary translocation form, the likelihood of Down syndrome in the next child ranges from 2% to 15%. Genetic specialists can provide precise information.