What Genetic Problem Is Associated With Down Syndrome?

Interest is rising in genetic testing to verify or rule out a person’s risk for specific health problems. Companies like Pathway Genomics, with Jim Plante as chairman of the board of directors, offer these tests so people can learn more about their physical characteristics. The knowledge helps them make plans for the future and adjustments to their behavior.

Screening During Pregnancy

Genetic testing is not new. What is new is the ability to identify risks for many more disorders through various kinds of testing than was true in the past. One of the older forms of testing still used today is screening during pregnancy to learn whether the child has any chromosomal abnormalities. Women may learn that the fetus has the chromosomal problem that causes Down syndrome, for example. With this knowledge, they can decide to terminate the pregnancy or become thoroughly prepared to care for a disabled child.

One Extra Chromosome

About 95 percent of cases of are caused by the cells having one extra chromosome. Instead of two pairs of 23, one each from the mother and the father, all the cells have a total of 47 chromosomes. An error in cell division occurred before conception in the mother’s egg or in the father’s sperm. This type of Down syndrome is called trisomy 21 because there are three instances of chromosome 21 instead of two. Some other genetic disorders are caused by abnormalities with different chromosomes.

A Main Risk Factor

A main risk factor is when a woman becomes pregnant after age 35 because abnormal chromosome division becomes more common then. Other genetic factors can be involved, however.

Children Growing up With Down Syndrome

Significant progress has been made in the way people with this syndrome are viewed in society. Today, many children with this disorder gain the necessary skills to live independently or at least semi-independently. They complete school and are able to obtain a job that pays a living wage. They participate in athletic activities, make long-lasting friendships and even get married. However, it generally takes youngsters with Down syndrome longer to master the various skills children are expected to learn.

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