Mendeteksi Down Syndrome sebelum Kelahiran

Down syndrome is one of the most common chromosomal abnormalities. It occurs about once in 800 to 1000 live births. Despite that, most people don’t know much about Down syndrome. Their opinion is often based on outdated prejudices and portrays people with the syndrome in a worse light than they deserve.

Let’s see what Down syndrome and living with it actually means for the family and for the child.
What exactly is Down syndrome?

Down syndrome is a result of an additional 21st chromosome in each body cell. A person with Down syndrome thus has 3 chromosomes 21, instead of two, and the abnormality is called trisomy 21.

People with Down syndrome typically have recognizable facial features, hypotonia, and short and stocky physique. Their mental and physical development is slower, but these similarities do not mean that all people with the syndrome are alike. Down syndrome’s intensity varies, and each person also has a distinct personality.

About half of the babies with Down syndrome either are born with or develop heart defects. Fortunately, almost all of them can be surgically corrected.

We know much more about Down syndrome today than we used to. Back in 1982, the average life expectancy for people with Down syndrome was just 25 years. Most of them spent their lives in psychiatric institutions. Today, people with Down syndrome live much fuller lives and their average life expectancy increased to 60 years!

Today we can accurately predict if a child will be born with Down syndrome. Knowing that as soon as possible gives parents enough time to make an informed decision about their and the child’s future.
How to detect Down syndrome before birth and why do it?

The unexpected birth of a child with Down syndrome is without a doubt a huge shock to both parents. Fortunately, Down syndrome can be detected by prenatal tests. The most popular prenatal test at the moment is called NIPT. It’s non-invasive, detects Down syndrome with more than 99% sensitivity and can be performed after 10 weeks of pregnancy. You can learn more about the benefits of the NIPT test in this article.

The discovery of Down syndrome in the early stages of pregnancy allows parents to get in-depth information about the syndrome and talk it through with doctors, professionals and parents who have children with Down syndrome. This way, they will have an accurate image of what to expect and enough time to think about how to proceed.

If the parents decide to keep the child, they can continue their education and prepare for a life with a child with Down syndrome before it is born.

Life with Down syndrome

Each human being a unique personality, talents and abilities. People with Down syndrome are no different.

Nowadays their situation is much better than it used to be. The syndrome is better understood and the parents can find support and information about the best possible upbringing of their child.

Most kids with Down syndrome learn how to walk, talk, read and do simple math. Some go to regular elementary schools, others to a specialized program. They have friends, hobbies and later a job suitable for their skills. Most people with Down syndrome can become partially independent individuals. Some even marry and get a driving license.

They can even be movie actors. Recently, a Hollywood movie Peanut Butter Falcon was released, starring an actor with Down syndrome, Zack Gottsagen.

In the past, people with the syndrome were underestimated. Our society saw them as completely incompetent and helpless. That’s obviously not true.

Of course, all of the above does not change the fact that finding out your child has Down syndrome is very stressful. It’s not something you plan for and it’s easy to feel lost and afraid.

That’s when national or local Down syndrome associations and societies can be of great help. They provide information, guidance, and contacts of parents with a similar experience. Talking to them can help immensely. Parents see that they are not alone. They also learn about the challenges and, more importantly, about the positive things that lie ahead of them.

Many parents will tell you that a child with Down syndrome has changed their lives and taught them plenty of life lessons. Some say the extra chromosome their kids have may indeed impact their development, but it is also full of love, joy and compassion.

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