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Down Syndrome

Down syndrome is the most common trisomy in the general population, occurring with a 1: 700 incidence in newborns.

The frequency of this syndrome is affected by the age of the mother, so the risk for the existence of Down syndrome increases in pregnant women over 35 years.

Down syndrome occurs as a result of chromosome 21 trisomy 21. Instead of two chromosomes 21 (dysomy), there are three in this syndrome, hence it is called “trisomy 21”.

The most prominent features of Down syndrome are:

  • intellectual disability,
  • abnormalities of the heart and/or other organs,
  • increased risk of leukemia,
  • reduced resistance to infections,

Down syndrome – treatment

There is no cure for Down syndrome, however, there are educational institutions and programs that can provide support for children with Down syndrome and their families.

Children with this condition can often benefit from speech therapy, occupational therapy, and exercise to improve motor skills.

Some of the health problems that are common in people with Down syndrome, such as cataracts, hearing problems, thyroid problems, can be corrected and alleviated with proper medical care.

Down syndrome – symptoms in infants

A baby with Down syndrome at birth may be of normal size, however, children with this condition develop more slowly than children who do not.

People with Down syndrome usually have a degree of intellectual disability, usually mild to moderate.

Some of the characteristics that can be noticed during childbirth are:

  • small head and ears,
  • short neck,
  • swollen tongue,
  • sloping eyes,
  • weak muscle tone.

Due to the slowness of intellectual development, the display of impulsive behavior, decreased ability to reason, attention disorders and learning difficulties is possible.

Medical complications that often accompany Down syndrome include:

  • congenital heart defects
  • hearing loss
  • vision problems and cataracts
  • higher risk for leukemia
  • chronic constipation
  • early onset of dementia
  • hypothyroidism (decreased thyroid function)
  • obesity
  • susceptibility to infections, especially respiratory, skin and urinary tract infections

The cause of Down syndrome?

Inside all the cells of the body are small structures called chromosomes. They carry the genes that determine how we develop. It is common for each person to have 23 pairs of chromosomes in each cell.

When our body creates the special cells needed for fertilization, chromosome pairs divide and rearrange. Sometimes these chromosome pairs do not divide properly, which leads to the fact that the baby cells have an extra copy of the chromosome, in this case chromosome number 21.

This phenomenon results in the appearance of Down syndrome in the fetus and the reason is that this syndrome is also called Trisomy 21.

After many studies on germ cell defects, researchers have shown that the cause of Down syndrome is:

  • In more than 90% of cases, an extra copy of chromosome 21 comes from the mother, i.e. it is located in the ovary in about 4% of cases, an extra copy of chromosome 21 is found in the sperm (derived from the father).
  • In the remaining cases, the error occurs after fertilization.

What are all the tests for Down syndrome in pregnancy?

Amniocentesis (analysis of amniotic fluid, ie amniotic fluid) and choriocentesis (chorionic villus sampling) are tests that provide definite information and are called diagnostic tests. However, these tests are invasive, their performance increases the risk of miscarriage. For this reason, they are not recommended for all women.

Screening tests are tests that do not provide definitive information but determine a high or low risk for Down syndrome, and more importantly, these tests pose no risk to either the fetus or the mother.

There are several screening tests, of which the genetic test is certainly the most accurate. If these tests show a high risk, the pregnant woman is referred to one of the invasive diagnostic tests.

Down syndrome – risk factors

Some parents have a higher risk of having a child with Down syndrome. Mothers older than 35 are more likely to have a child with Down syndrome than younger mothers. The risk increases with the age of the mother.

Research shows that father’s age also has an impact. A 2003 study found that fathers over the age of 40 were twice as likely to have a child with Down syndrome as men under the age of 40.

Other parents who are most at risk for having a child with Down syndrome are:

  • Parents with a family history of Down syndrome
  • Parents carrying a genetic mutation

It is important to always keep in mind that none of these factors mean that these parents will necessarily have a baby with Down syndrome – the above only means that the probability of developing Down syndrome has increased.

Learn more about the VERACITY prenatal test at AvicenaKS Laboratory.

The VERACITY test is a new generation test that accurately detects Down syndrome, Edwards and Patau syndrome in the fetus, the three most common genetic disorders of the fetus.

Furthermore, the VERACITY test detects other syndromes caused by aneuploidy of the X and Y chromosomes.

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