Most people don’t recognize Trisomy 21, but they do know about its more common name: Down Syndrome. It occurs because a third chromosome appears on Trisomy 21 instead of the usual two. DNA is made up of 23 pairs of chromosomes, but for people who have Down Syndrome, instead of 46 chromosomes, they have 47. It is considered a birth defect and it is the most common defect that occurs in the United States at this time.
Prenatal screenings are often conducted to help parents determine if their child has been afflicted by Trisomy 21. These screenings can help to provide a generalized finding that creates a probability that a child may or may not have Down Syndrome. The Trisomy 21 blood test can provide a definitive diagnosis that is 100% accurate every time the results are examined.
What Do My Test Results Mean?
If you have had a negative Trisomy 21 blood test, then you will always be negative. If you have a positive blood test, then you will always be positive. This is because Down Syndrome occurs during the fetal developmental stages. It can either be inherited or be caused by a random mutation that creates the third chromosome.
Children of parents who have Down Syndrome may not receive the third chromosome at all.
There are a number of reasons why a prenatal test is important. The level of development on the third chromosome affects the severity of Down Syndrome for the child. If the developing fetus has a mostly complete third chromosome throughout most of their body, then there is a strong probability that the child will be born with severe and debilitating birth defects. Partial, incomplete, or even some cells being free of the third chromosome will limit the severity of the Trisomy 21 issue. Knowing the potential severity can help parents make an informed decision.
Some parents may consider terminating their pregnancy when a Trisomy 21 diagnosis is made. It should be noted that there is a long waiting list of parents who wish to adopt a child with Down Syndrome.
There may be additional birth defects that would need to be corrected after being born, most notably heart defects, that may also need to be noted.
Isn’t Down Syndrome Diagnosed Visually?
Many children with Down Syndrome who are born without prenatal testing have distinct visual features. This may include having lower than normal muscle tone, flat facial profiles, an upward slant to the eyes, and more space than normal between the first two toes. There may also be joint flexibility, deep creases across the palms, a small nose, and skin folds near the corners of the eyes.
The only problem is that some children born with Trisomy 21 do not have all of these features. Mild forms of this birth defect may show little or no evidence of Down Syndrome. This is where the Trisomy 21 blood test is beneficial. A blood sample is taken from the newborn and then a karyotype is obtained. This allows the individual chromosomes of cells to be photographed and grouped. This is why the blood test is 100% accurate.
Is There Any Way To Treat Trisomy 21?
There is no current method of correcting this genetic birth defect. The main goal of treatment for children born with Down Syndrome is to treat any bothersome physical symptoms. Some children may have learning disabilities, trouble speaking, or difficulty maintaining their emotions. Physical therapy, occupational therapy, speech assistance, and other targeted therapies and treatments will be recommended based on the signs and symptoms of each child as they develop.
There are many organizations that can help new parents navigate the sometimes challenging needs of having a child with Trisomy 21. This may include special benefits, Medicaid assistance, and locally based therapies that may be available.
Having a Down Syndrome diagnosis does not automatically mean that the child will not be able to function on their own. Many people with Trisomy 21 have the ability to live long, fulfilling lives, hold down good paying jobs, and even have families. There may be specific challenges in parenting children with Down Syndrome, which local support groups may be help to help new parents navigate as well.
It can be a heavy blow to have the Trisomy 21 blood test results explained. Allow time for this information to settle in. Ask questions, use this guide as a reference if necessary, and make plans based on what best meets your needs.