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Down syndrome: The most common genetic disorder you've never heard of
Pathology
Wed Sep 27 2023
Down Syndrome is a genetic condition occurring due to an issue in cell division resulting in an additional chromosome 21. It usually impacts an individual’s physical growth and cognitive skills. These individuals are more prone to an increased risk of specific health concerns.
Doctors can suggest a set of screenings and tests to diagnose Down Syndrome before or after childbirth. Down Syndrome is found in about 1 in every 700 infants born. This blog highlights the medical condition, the symptoms, causes, diagnosis, and more.
The Symptoms of Down Syndrome
The individual afflicted with Down Syndrome can face many effects and it varies from person to person. Some of them need help and care throughout life while others grow up independently.
Mental abilities can be different for each person. However, mostly mild to moderate problems with reasoning, thinking, and understanding are found in people. They have the potential to learn new skills throughout their lives, but they might take longer to absorb the concepts of talking, walking, and social skills.
People afflicted with Down Syndrome can have some peculiar characteristics in common. These may include:
- Eyes slanting up towards the outer corner
- Flat noses
- Small ears
- Short stature
- Protruding tongue
- Small hands and feet
- Very small white spots in the colored part of the eyes
- Short neck
- Loose joints
- Weak muscle tone
Most individuals with Down Syndrome usually lack any other health problems, but some have. Some of the typical health issues are trouble seeing and hearing and heart problems.
The Causes and risk factors of Down Syndrome
For many people, every cell in the body has 23 pairs of chromosomes. One chromosome in every pair comes from your mother and the other comes from your father.
However, when it comes to Down Syndrome, there is an error and parents get an additional copy of chromosome 21. This implies that the parents have three copies rather than two, which causes the symptoms of Down Syndrome. Even Doctors are not certain why this occurs. There is barely any connecting link in the environment to anything or anything the parents didn’t or did do.
While Doctors aren’t aware of the causes, they are certain that women aged 35 and above have more chances of having a baby with Down Syndrome. Possibilities suggest that if a couple has had one child with Down Syndrome, then another one can be the same too.
It is uncommon, but it is likely to pass Down Syndrome from parents to Children. At times, a parent can possibly have ‘translocated’ genes. That pimples some of their genes are not in their normal place. Probably, on a different chromosome from where they are usually found.
The parents are not afflicted with Down Syndrome because they possess the correct genes. However, their kid may have ‘translocated Down Syndrome’. It is not a given that everyone with translocation Down syndrome inherits it from their parents- it can also occur by chance.
Different kinds of Down Syndrome
There are typically three types of Down Syndrome:
- Translocation Down Syndrome - In this variant, every cell in the body has part of an additional chromosome 21 or a whole new extra one. However, it’s usually entwined with another chromosome rather than being on its own.
- Trisomy 21- This is, so far, the most typical one, wherein each cell in the body has three copies of chromosome 21 rather than two.
- Mosaic Down Syndrome- This is the rarest variant, wherein only certain cells have an additional chromosome 21.
It is hard to tell what type of Down Syndrome some person has by merely seeing their appearance. The effects of all three variants are quite similar, but a person who has Mosaic Down Syndrome might not have all these symptoms as fewer cells have the additional chromosome.
Diagnosis
Regular tests performed during pregnancy may verify whether your baby has the probability of having Down Syndrome. If those results turn out to be positive, or supposedly, you are at increased risk, you might opt for more invasive tests to be sure.
In the first trimester, you might go for:
- Ultrasound- Your doctor may take a glimpse of your baby’s picture and measure the tissue folds at the back of the neck. Babies with Down Syndrome can have additional fluid there.
- Blood Tests- Your doctor may measure the levels of a protein known as PAPP-A and a hormone called hCG within your blood. If the results exceed the normal range, it could signal a problem with your infant. Just in case you’re at higher risk for Down Syndrome, doctors can also check for DNA from the infant in your blood that they can examine to look up any abnormalities in your chromosomes.
In the second trimester, you may opt for:
- Blood Tests: A triple or quad screen test checks other substances in your blood such as the protein AFP and the hormone estriol. The measurement of those levels in combination with the first trimester results will provide your doctor with a fine estimate of the likelihood of whether your baby has Down Syndrome.
- Ultrasound: When your infant is further developed in your womb, an advanced ultrasound can display some of the physical features of Down Syndrome.
Other types of tests that can diagnose Down Syndrome before your baby is born by monitoring a sample of their DNA for an additional chromosome 21 are:
- Amniocentesis: Fluid is, usually, taken from the amniotic sac that surrounds the baby, typically, during the second trimester.
- Chorionic villus sampling (CVS): This may be done in the first trimester, making use of cells taken from the placenta.
- Percutaneous umbilical blood sampling (PUBS): This test is done in the second trimester using blood removed from the umbilical cord.
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Suppose you're feeling unwell, and your doctor asks for tests to find out for what valid reason. The medical reports from the lab let your doctor know what's up. Thus, if the lab isn't great, the results probably won't be right. That is the reason picking a reliable e lab is so significant. The test results should be flawless.
Check their Reputation
To begin with, make an inquiry or two. Your companions, family, or even your primary care physician could know a decent lab close by. A lab with a solid standing is much of the time a protected decision. Numerous labs presently have audits on the web. Perusing these can let you know others' thought process. Assuming that most surveys are great, that is a green banner!
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Excellent labs don't need to be costly. Call a couple of labs and request the costs of standard medical tests. Comparing expenses can assist you with tracking down a reasonable choice. A few labs likewise offer discounts or packages for different tests. If you're on a tight spending plan, these arrangements can be exceptionally useful.
Inquiring about the Staff and Gear
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Take as much time as necessary
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- Use Flea Control Products: Pet owners should use flea control treatments on animals to reduce the risk of fleas entering the home.
- Wear Protective Clothing: When spending time outdoors or in areas with rodents, wear long sleeves and pants to minimize exposure.
- Keep Living Spaces Clean: Regularly clean and vacuum to prevent flea infestation indoors.
