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What are trisomies and how do they develop?



The genetic material of all cells is organised in chromosomes. Two of them (the sex chromosomes X and Y) determine the sex of a person, the others (chromosomes 1 to 22) are called 'autosomes'.
As a first step, the chromosomes double before each cell division before they are evenly distributed to the two daughter cells. Errors can occur in the course of this distribution. If such errors occur during the development of egg and sperm cells and a child is created from such modified cells, then the child will carry the modified genetic information. Many of these imbalances of chromosomes, however, prevent the develop - ment of a pregnancy from the respective germ cells or cause early miscarriages. If the cells of a child carry a given chromosome in triplicate instead of duplicate (as normally) this is called 'trisomy'. Only very few of such trisomies are compatible with life. The most frequent and best known such imbalance of chromosomes is trisomy 21, in which chromosome 21 is present three times instead of twice in the child. Trisomy 21 is typical for Down's syndrome.

Besides the well-known invasive tests for trisomies, today it is possible to undergo the PrenaTest® on a simple blood sample taken from the mother during pregnancy, with a test realiability of more than 98%.
 
 
 
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