Down syndrome test

Down syndrome has been around forever, but very few people actually understand what it is. Down syndrome is a chromosomal disorder that is the result of extra genes that cause delays in the child’s development. Babies get half of their 46 chromosomes from each parent when they are conceived. When a child has Down syndrome, it means that he or she inherited an additional chromosome from one of the parents. Depending on the child, they may or may not need frequent medical attention throughout their lives. Some children with Down syndrome may also have physical traits that are similar to other children with Down syndrome.

Many people decide that they would like to find out before their child is born, whether or not it will have Down syndrome. There are people who object to Down syndrome test takers because they feel that the viability of the fetus and the life of the resulting child should not be ended if the results turn out to be positive. Of course having a Down syndrome test that results in a positive diagnosis does not mean that the pregnancy will be medically terminated. The knowledge that a child with Down syndrome is on the way can actually help to make parents better prepared to give that child a wonderful life because they will have time to study the syndrome and learn how to best care for the child.

Diagnostic Down Syndrome Test
Down syndrome is most often present when the pregnant mother is 35 or older. Younger mothers have a decreased risk—but that does not mean the risk is entirely gone. It does mean that the Down syndrome test is most often done on pregnant women over 34.

The most common form of Down syndrome test is called amniocentesis. amniocentesis is the process of inserting a needle into the mother’s abdomen so that amniotic fluid can be extracted. This is generally done when the mother is 15 to 20 weeks pregnant and carries a small risk of miscarriage.

After the amniotic fluid is extracted the cells are cultured and the chromosomes they are made up of are analyzed. This will indicate whether or not there is an additional chromosome present and will help determine whether or not the child has Down syndrome. The method is roughly 99% accurate.

Percutaneous Umbilical Blood Sampling (also called PUBS)

Another Down syndrome test that is conducted on pregnant women who are more than 18 weeks along is PUBS, which involves taking a sample of umbilical cord blood with a needle. The blood is then tested to find any defects of the chromosomes within. Unfortunately, the risk of miscarriage is higher with PUBS so it is not done often.

Screening Down Syndrome Tests
In order to avoid the risk of miscarriage that goes along with other tests, some women opt for screening tests which combine ultrasound results and blood tests. Ultrasounds can find abnormalities in a baby’s neck that indicate the presence of Down syndrome. Blood tests test levels of protein and hormones and can find elevated levels that indicate a problem with the fetus. Unfortunately, these tests really only point out the likelihood that the fetus may have Down syndrome. They are not conclusive tests and, depending on the results, may lead to the necessity of the riskier diagnostic tests.

Remember, if you find that your unborn child has Down Syndrome, there are many resources both online and off that you can rely on to help educate you about care of the child and support for you and your spouse. Your OBGYN should have information, resources and pamphlets that will help you and your spouse understand what happens next and how best to handle it.

Last updated on Nov 30th, 2010 and filed under Mental Health. Both comments and pings are currently closed.

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