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Down syndrome (Trisomy 21)

Down syndrome or trisomy 21 is one of the most common and best known congenital syndromes that result from a change in chromosomes. In Down syndrome each cell of the body contains an additional chromosome or part of a chromosome. The cells of the body therefore have 47 chromosomes – normally there are 46. Chromosome 21 is present in three copies instead of two. This is why the syndrome is known as trisomy 21. Because the genes that are located on chromosome 21 are present in three copies, certain proteins are produced in excessive quantities. As the foetus with Down syndrome develops, the cells in its body divide slower than those of a foetus with normal chromosome numbers. The survival chances are reduced and many pregnancies end in miscarriage

Features of Down syndrome

People with trisomy 21 have typical external features: they are rather small and have less developed muscles and soft connective tissue, meaning that their joints are often overstretched. They have a round face and usually eyes that are slightly slanted upwards. Their hands are generally broad and their fingers rather short. Typical for people with Down syndrome is also a high, narrow palate and an enlarged tongue. Development of children with Down syndrome is on the whole delayed. The most common health problems include digestive tract disorders, heart anomalies and hearing and vision problems.
The mental abilities of these children vary widely . The spectrum ranges from severe disability to almost normal intelligence. Early support for children with Down syndrome is extremely important and enables them to make big advances in learning!

Risk factor: The age of the mother

The health of the parents does not have any effect on the frequency of this random error in the fusion of the germ cells and subsequent cellular development. However, the risk of children developing some chromosome disorders clearly increases with the age of the mother. Current research indicates that the father’s age has less of an influence.

"Mongolism": An outdated term

The name " Down syndrome " refers to the English doctor John Langdon Haydon Down (1828–1896) who not only described people with the syndrome in 1866 but also initiated specific support programmes for them. The terms " mongolism " / " mongoloid ", coined by him, which refer to the external features of the round shape of the face and the slanted shape of the eyes, have what we consider nowadays to be a racist tone and are often considered offensive. As well as the name Down syndrome, trisomy 21 is used as a neutral description of the chromosomal anomaly.

Diagnoses, consequences, perspectives

The diagnosis "Down syndrome" is often made during pregnancy itself, when, for example, an amniocentesis (examination of the amniotic fluid around the baby) is carried out after an abnormal antenal DNA-test or nuchal translucency scan. Parents may then have to make a difficult decision. Such a diagnosis was once a traditional reason for terminating the pregnancy for reasons of " eugenics" (that is, due to the expected impairment of the child). The eugenic indication for terminating the pregnancy no longer exists since the reform brought about by Paragraph 218. Nowadays a medical indication is given in such cases if the mother cannot reasonably be expected to bear the burden of having a disabled child.
In nine out of ten cases such a pregnancy is terminated. Under natural conditions about one in 660 children is born with trisomy 21, while in Germany today the rate is fewer than one in 2000 children.

Chances and opportunities

The picture that society has of people with trisomy 21 is outdated: many of those affected lead fulfilled and relatively independent lives and are well integrated into their environments

The diagnosis of"Down syndrome" does not automatically result in the termination of a pregnancy.  To be able to make the decision for or against continuing with the pregnancy consciously and responsibly, parents can seek advice and counselling from the following information centres in Stuttgart:

Pregnancy counselling Stuttgart

Contact addresses of the pregnancy counselling centres to download

46plus - Down Syndrom Stuttgart e.V.

Website of the parents of children with Down syndrome with information as well as contact and consultation offer in the space Stuttgart


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