At the end of your pregnancy journey, when you’re holding your little bundle of joy in your arms, it shouldn’t be important if you have a boy or a girl, or if the baby has red or brown hair--or no hair, in some cases. At the end of the day, does it really matter if she looks more like you or your husband’s grandmother instead?
The real importance lies in whether or not the baby is healthy at the time of birth. Hearing your child has an incurable illness can easily be equated to a knife to the heart. For parents who receive a diagnosis of Down syndrome, it can feel very overwhelming. Will he or she be okay? What will the future hold? Hundreds of questions are likely swirling in your head.
The following guidelines will offer some helpful information on the disorder, including some ways to find support. The bottom line is children with Down syndrome can still have healthy, and very happy and fulfilling lives.
15 What is Down Syndrome?
Down syndrome is known as the most common genetic disorder in North America. Also known as trisomy 21, is a genetic disorder caused by the presence of all, or part of, a third copy of chromosome 21. It is most commonly associated with physical growth delays, distinct facial features, and mild to moderate intellectual disability. For example, the average IQ of a child with Down syndrome is 50, which would be equivalent to that of a child of 8 or 9 years of age.
Chromosome 21 is actually the smallest of all human chromosomes. Recently scientists have discovered there are fewer genes in chromosome 21 compared to others. But this chromosome has the potential to wreak havoc during conception when it is duplicated or added to a fetus' genetic makeup.
14 What Causes Down Syndrome? Genetics 101
Let’s do a quick genetics lesson. During reproduction, both parents pass their genes onto their children. These genes are called chromosomes. As the baby’s cells develop, each cell should receive 23 pairs of chromosomes each (a total of 46). These cells continue to divide and separate as the fetus grows over the next nine months.
Down syndrome is caused when one of the baby’s chromosomes, passed down from the parents, do not separate or divide properly. The baby winds up with three copies, or an extra partial copy, of Chromosome 21. This extra chromosome can cause problems with developmental and physical growth.
When the cell division fails to develop normally, this error is classified as nondisjunction. These errors can take place in the formation of the egg or the sperm, long before the two sets of genes even meet. According to the National Institutes of Health, in more than 90 percent of cases, the mother's egg carries the extra copy of chromosome 21. In four percent of cases, the father's sperm carries the extra chromosome. In the remaining cases, the cell division after fertilization is the cause.
13 Types of Down Syndrome
There are three types of Down Syndrome, and the severity of the disorder varies with each type. It isn't known whether the different ways in which chromosome 21 comes into play has any determining factor in how Down syndrome manifests itself, or more specifically what type of Down syndrome is caused by the three different factors leading to Down syndrome.
Trisomy 21: This means there’s an extra copy of chromosome 21 in every cell. Normal cells in the body usually have two copies of chromosomes. In individuals who have Trisomy 21, each of their cells has three copies. It’s the most common form of the disorder as 95% of the total number of kids have this type of Down syndrome.
Translocation: In this form, children have only an extra part or whole extra chromosome 21 and is attached or "trans-located" to different chromosomes rather than being a separate chromosome. Translocation affects three percent of individuals diagnosed with Down syndrome.
Mosaicism: In this case, a child is born with an extra chromosome in some but not all of their cells have three copies of chromosome 21. Those with this type of the disorder tend to have fewer symptoms than those with Trisomy 21. This could be because the extra chromosome isn't attached to all cells.
12 Who is at Risk for Down Syndrome?
You may find the odds of having a child with Down syndrome surprising. The biggest and easiest identifiable risk is the maternal mother who's over the age of 35. Women in this age bracket are automatically a risk of having a child with Down syndrome. Paternal age also makes a difference, believe it or not.
Interestingly, a diagnostic test cannot reveal the likelihood for individuals to have a baby with Down syndrome. However, some identifiable risk factors include people who carry the genetic translocation gene. This means their risk of having a baby with Translocation is higher than an individual who doesn't have any predisposition.
Lastly, those with a history of Down syndrome in the family also have an increased risk of having a baby with Down syndrome.
11 Signs of Down Syndrome
According to the Canadian Down Syndrome Society, babies with Down Syndrome can possess these prominent physical characteristics, a flattened nose, eyes that are spaced close together and slant upwards, a bulging tongue, a shorter than normal neck, poor muscle tone, and a smaller head and ears than their peer group.
Down Syndrome is also characterized by mental and social delays. These types of delays can include impulsive behavior, short attention spans, slower learning capabilities, and poor judgment. To overcome these obstacles, children with down syndrome are taught social and interactive skills with children and adults.
Learning focuses on social understanding, so empathy and friendship are key skills that are emphasized through play and liesure activities. Ultimately the goal is to get children with down syndrome to learn social and personal independence and socially acceptable behavior. These skills can be taught and practiced throughout their lifetime for an improved quality of life and for more social inclusion in the class and the working world.
10 Medical Complications of Having Down Syndrome
Some people with Down syndrome experience very few health side effects as a result of their condition. Others need more medical intervention as they grow up. Some of these medical complications of Down Syndrome are more common than others. Half of all children born with Down Syndrome are also born with heart defects. These heart defects may be life threatening and require surgery shortly after birth.
Down Syndrome can also affect a person's vision. Disorders like short sightedness, long sightedness and astigmatism are most common, but sometimes people with Down Syndrome also get cataracts. These can cause the person to squint and experience delays in developing effective visual focus, depth perception and sharp vision. These conditions are usually treated with the appropriate eye wear.
Hearing loss is another problem that people with Down Syndrome can suffer from. Around 80% of people with Down Syndrome have some form of hearing loss. Hearing loss can cause people with Down Syndrome to suffer from difficulties with speech and language development. If treatment to hearing loss isn't available, most people with Down Syndrome can learn sign language to help them communicate with others.
Interestingly, people with Down Syndrome over the age of 30 almost always have some form of Alzheimer disease present at birth. It's been observed that the dementia associated with Alzheimer disease is found in 10% of people with Down Syndrome aged 40-49, and in 26% of those aged 50 and over. Other people with Down Syndrome have a higher inclination toward some autism-spectrum disorder and attention deficit disorder in their youth than their peers.
Other health conditions like low thyroid function (hypothyroidism), obesity, sleep apnea and late tooth growth can be dealt with by close monitoring by health professionals and care givers. People with Down syndrome can also have an overall poor immune system, leaving them prone to various types of infections.
9 Screening for Down Syndrome
True, there are no signs and symptoms during pregnancy to indicate Down Syndrome. You won’t wake up and suddenly “feel” something is wrong. There is, however, screening available to detect the likelihood of the disorder. Screening is offered as part of the regular prenatal process but it is optional.
One of these tests is an integrated screening test which is done in 2 parts. the results of this testing will determine the estimated risk that your baby may develop Down Syndrome.
Blood test: In the first trimester blood samples are taken to measure PAPP_A and an ultrasound to measure nuchal translucency. During the second trimester a quad screen measures your blood again for alpha fetoprotein, estriol, HCG and inhibin A which can determine whether your baby has Down Syndrome or not. These tests have a lower false-positive rate than the previously mentioned tests.
Ultrasound: This measures a specific area on the baby’s neck. When abnormalities are present, more fluid than usual collects in this neck tissue.
It’s important to note that the screening tests can result in false-positives, so talk to your doctor about the next steps if you do receive a positive result on the screening test.
8 Diagnostic Tests for Down Syndrome
You may choose to have additional tests done if you did receive a positive result on your screening test. Some of these tests are more invasive than the previous tests, as they involve testing samples taken from inside the womb.
Another blood test that mother's can do is called a cell-free fetal DNA analysis. The test measures the mother's blood and checks the fetal DNA which can indicate Down Syndrome. This test is usually administered after 10 weeks of pregnancy. However, a more invasive test may need to be administered afterward to determine a certainty to the baby's diagnosis.
These last tests can provide concrete answers about the baby's diagnosis, but they are riskier due to the fact that each one involves going into the womb to obtain samples. Doing so may result in miscarriage.
Amniocentesis: a small sample of amniotic fluid taken from the fluid inside the womb are taken for examination. Doctors use this sample to analyze chromosomal data about the fetus. This is carried out from week 15 of pregnancy and onward and carries a slightly increased risk of miscarriage.
Chorionic Villus Sampling (CVS): A sample of cells are removed from the placenta via a needle and once again chromosomal levels are tested. This test is usually performed during the first trimester after week 11 of pregnancy. This test carries a higher risk of miscarriage than second trimester amniocentresis.
Cordocentesis: This test is also known as percutaneous umbilical cord sampling, or PUBS fro short. In this test, fetal blood is taken from a vein in the umbilical cord and tested for chromosomal defects that indicate Down Syndrome. Doctors can complete this test in between weeks 18-22 of pregnancy. This test carries a much greater risk of miscarriage than the previous tests.
As with any tests, there are risk and benefits, so be sure to discuss them with your doctor beforehand. If you plan to do IVF there are preimplantation genetic tests available so couples can have their DNA tested before passing along genetic material with abnormalities.
7 Reasons to be Screened for Down Syndrome
Learning that you could be at risk of having a child with Down syndrome may be really important to you. This could be for a variety of reasons.
For one, perhaps you have a history of Down syndrome in your family or your partner's family. This could increase the likelihood of inheriting the disorder.
If you test positive on the screening test, you may want the chance to read up about Down syndrome so you are better prepared for what could be. Educating yourself won't change the outcome but awareness can make you feel more in control of your situation.
Perhaps you want to consider your options, including possible pregnancy termination. Raising a special needs child is challenging and not everyone feels up to the challenge. It is very much an individual choice, and there's no right or wrong answer when dealing with sensitive matters such as these.
6 Reasons to Opt Out of the Screening Process
This screening is completely voluntary, so it will be up to you and your partner whether you decide to go through the entire process. There are a few reasons you may make this decision. One of the main ones is you may have decided that “whatever will be, will be.” If you have no interest in terminating a pregnancy, knowing what you could be getting into beforehand may seem unnecessary.
Another important factor is, what if the tests are wrong? A lot of anxiety could be caused for no reason if the tests register as a false-positive. Perhaps you’re already classified as a high-risk pregnancy and do not need the extra worry on your plate. These are all valid reasons for not wanting to go through with the screening process.
5 Your Baby is a Baby, First and Foremost
Regardless of how you may be feeling at the time of diagnosis, it’s critical to remember that your little bundle of joy is exactly that: a bundle of joy. You’ve still been blessed with this beautiful child and he or she will bring you much happiness. Yes, there will be lots of frustrating moments, but they don’t have to define your child.
Your baby is a baby first--and the diagnosis is not the only thing that will shape his or her future. As stated earlier, children with Down Syndrome can still thrive if given the right opportunities to learn social behavior and life skills. These skills can help your child to be independent and able to interact with their peer group in social settings.
You baby, regardless of whether or not they have Down Syndrome is like a plant, with the right mount of nurturing, this plant can grow big and strong. If you neglect the plant, the plant will continue to need support to live.
4 Your Baby Will Still Achieve Milestones
Will your child walk? Will your child talk? Yes. He or she may not do things at the same pace as the average child, but these milestones will be achieved. Don’t fall into the trap of comparing children; it is a game that is bound to result in frustration.
Your child will progress, but likely at a slower pace depending on the severity of the disorder. You may get intelligible speech at five or six years old. Potty-training may continue to be a nightmare at 10 years old.
But your dedication to your child can help them to rise above their diagnosis and live a full and happy life. You wouldn't be guaranteed an easy time with a child who doesn't have a Down Syndrome diagnosis either. So approach this with a clear head and an open heart.
3 Embrace Your Child’s Differences
Your child will have unique gifts; embrace them and foster them. A cute laugh, a mischievous nature or even a special skill will melt your heart on any given day. You will learn so much about your child just by focusing on what makes them special and unique.
You might even find out through social skills training that they have a comedic side, or an artistic nature that helps them to better express themselves, and by nurturing this side of your child, you'll even learn more about yourself and what you're capable of.
Don't let a Down Syndrome diagnosis stand in the way of your child's unique gifts or personality. See through to the person inside, and that's who you're trying to encourage, love and support.
2 It’s Possible to Have a “Normal” Life
When a parent is given a diagnosis of a genetic disorder, it can be very scary. All the dreams you had for your child--going away to school, getting married, and even having children--can be dashed in the matter of a second.
There are various levels of severity when it comes to Down Syndrome. Highly functioning individuals can hold jobs, maintain relationships, and do all the wonderful things you had hoped for. The average lifespan for people with Down Syndrome is much higher than it was years ago, at approximately age 60. Some even live to age 80.
So, many wonderful things can be accomplished during this time.
1 Look for Support When You Need It
For those frustrating days, look for support when you need it. This may come in the form of going out with some good friends or meeting up with other parents who also have children with Down Syndrome.
Comfort can be found in finding commonalities. Ask your doctor or local hospital for information on groups that you may be able to attend. You can also contact the Canadian Down Syndrome Society for information on how to connect to other families.
Knowing when to ask for help and getting it is crucial when dealing with the challenges--both positive and negative--that raising a child with Down syndrome can bring about.