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Down Syndrome Test: What Every Parent Must Know

Have you ever taken the Down syndrome test? It’s a test that determines whether you or your baby have Down syndrome. But what exactly is a down syndrome test? How is it administered, and how reliable are the results?

If you're pregnant and concerned about your baby's development, you may be wondering what to look out for. This guide will help you understand the signs of Down syndrome during pregnancy, so you can be prepared and informed.


What is Down Syndrome?

Down syndrome (trisomy 21) is a genetic disorder that occurs when an individual has three copies of chromosome 21 instead of the normal two. More than 400 medical, physical and cognitive problems are associated with Down syndrome, but one of the most common symptoms is intellectual disability.

The average IQ for people with Down syndrome is 50 to 55, meaning they have trouble learning new skills and need significant assistance to function independently in society. However, individuals with Down syndrome can learn at different rates depending on their level of cognitive impairment.

Some people with Down syndrome may be able to write or read at higher levels than others on the same level of intelligence, while others may be unable to do either task due to severe mental impairment.


How Common Is Down Syndrome?

Down syndrome occurs at the same rate across races and ethnic groups: one in every 691 pregnancies results in a baby born with Down syndrome. This number has been fairly consistent over the last several decades.


Pregnant woman touching her belly

Image from Pexels

What Are the Signs of Down Syndrome During Pregnancy?

Down syndrome is a genetic disorder that occurs when there's an extra copy of chromosome 21. It's often associated with physical and mental disabilities, but the severity varies from person to person.

Here are some signs and symptoms of Down syndrome during pregnancy:

  1. Head circumference: Babies with Down syndrome have larger heads than those without it, so keep an eye on your baby's head circumference throughout pregnancy.
  2. Heart defects: Babies with Down syndrome have an increased risk of heart defects, so it's important to get your baby checked out by a cardiologist if you notice any heart murmurs or other irregularities during pregnancy.
  3. Low muscle tone: Babies with Down syndrome tend to have lower muscle tone than other babies, leading to difficulties like poor eye contact and posture later in life.
  4. Joint stiffness: Babies with Down syndrome tend to be stiffer than other babies at birth, which can cause problems later in life like joint pain and arthritis


How Do I Know if My Baby Has Down Syndrome?

You've probably heard that Down syndrome can be detected early in pregnancy by testing a sample of amniotic fluid. But how exactly do doctors determine whether or not your baby has Down syndrome?

It's important to know that the test is designed to work best when done between 11 and 14 weeks after conception, but it may still be accurate at other times of pregnancy.

During an ultrasound, your doctor will look for physical markers associated with Down syndrome. These include an extra copy of chromosome 21 (one of the 23 pairs in each cell) and an abnormal appearance of the heart and brain.

If you have any concerns about your baby's health during pregnancy, don't hesitate to talk with your doctor about them. The earlier you catch a problem, the better equipped you'll be to work through it together.


What Is a Down Syndrome Test?

A Down syndrome test is a medical procedure that helps determine whether or not a fetus has Down syndrome.

Down syndrome is a genetic disorder that can help with detection early in pregnancy using prenatal tests. With these tests, doctors can identify potential birth defects and allow parents-to-be to make informed choices about their pregnancy.


How Is Down Syndrome Test Performed?

There are two types of Down syndrome tests: invasive and noninvasive. Invasive tests require the removal of amniotic fluid from the womb, while noninvasive tests use blood samples drawn from the mother's arm.

Invasive tests typically occur between weeks 10 and 14 of pregnancy. Noninvasive tests happen as early as week nine (and sometimes earlier).


Blood sample for Down Syndrome Test Image source: iStock[/caption]


When Can You Test for Down Syndrome?

You can test for Down Syndrome from 9 to 15 weeks.

The earlier you can do this, the better because Down Syndrome is more common in older women. If you are over 35, having a test at 11-14 weeks is essential. Or if you're under 35, having your test at 9-12 weeks should be fine.

If you have had a previous baby with Down Syndrome or have a family history, it may be best to have the test as early as possible.

A doctor may recommend this test if there is concern about the baby's development during pregnancy. They may also order the test if:

  • The mother is age 35 or older
  • She has had one or more previous miscarriages
  • She has diabetes, thyroid disease, or other medical conditions
  • Her partner has a history of genetic disorders in his family


How Accurate Is the Blood Test for Down Syndrome?

The blood test for Down syndrome is one of the most accurate, but it's not perfect.

A pregnant woman can have this test as early as ten weeks into her pregnancy. It checks fetal cells' presence in the mother's bloodstream and looks for chromosome 21. The extra copy of chromosome 21 (which causes Down syndrome) comes from.

If the test is positive, your baby has a 50 per cent chance of having Down syndrome. Taking this test more than once can give you more information about how likely it is that your child will have Down syndrome. However, these tests have no guarantees—some women can get false negatives or positives.

It's important to remember that no matter what kind of test you take or how accurate it seems on paper, there will always be some degree of uncertainty when it comes to predicting whether or not your baby has Down syndrome. We still don't know exactly what causes this condition or how much risk factors like age or race play into its development (although both seem to have an effect).


What Is a Good Result for the Down Syndrome Test?


A good result for the Down syndrome test is one in which there is no evidence of the presence of a chromosome abnormality. This means the parent or child will have one copy of chromosome 21 instead of two.
If you are pregnant and the result indicates that your fetus could have Down syndrome, it's important to know what a good result would be for this test. Your doctor can help you understand whether your result is normal or abnormal.

Can Down Syndrome Be Cured During Pregnancy?


The answer is no, Down Syndrome cannot be cured during pregnancy.
Just like there is no definite cause for the presence of the chromosome abnormality, there is no known cure for Down syndrome yet. However, treatments are available to help children with Down Syndrome lead healthy lives. These include speech therapy, occupational therapy, physical therapy, vision care, hearing aid devices and hearing implants if needed.
There are also educational programs such as Early Childhood Intervention (ECI). It provides early intervention services to children with developmental delays or disabilities between birth and age 3.
Special Education Services (SES) provides special education services for students with disabilities between the ages 3 through 21. Lastly, there are Transition Services which help young adults with disabilities transition from school into adulthood by providing support services.

Down Syndrome tests in Singapore, pregnancy tests 


While you cannot know everything and plan everything about how your baby will turn out, there are things you can do to ensure he can live his best life, regardless of his disabilities. Ask your doctor about the best time to take the Down Syndrome test during pregnancy.

UCSF Health, NHS, Mayo Clinic


Republished with permission from theAsianparent