Genetic Counseling for Down Syndrome
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  • 1. Genetic Counseling(Down Syndrome)
    From: Shelby Finnie
  • 2. Today, I have to tell a couple that their unborn child had positive test results for Down Syndrome. They are coming in to meet with me soon and I have prepared a list of things I need to go over with them as well as some helpful websites and groups they can join for extra support. I will also make sure to tell them right away that I am here to help them overcome the fear or doubts they have about having a baby that has Down Syndrome. Most importantly I need to make sure they know that this child is a gift not a burden and they will find that raising a child with Down Syndrome is a very awarding experience.
    It’s not a burden, it’s a gift!
  • 3. This is how your baby inherited down Syndrome
    First I would start by explaining that even though their tests came in positive for having a child with Down Syndrome, there are many false positives and negatives. So until their child is born nothing is definite. Then I would start informing them about the technicalities of down syndrome:
    Down syndrome is the most common mental disability in the US and affects 1 in 800 babies.
    Usually a child inherits 23 pairs of chromosomes, half from the father and half from the mother. A healthy baby will end up with 46 chromosomes in all.
    If something goes wrong before fertilization, one of the parents egg or sperm cell may have an extra chromosome 21 resulting in the fetus having 47 chromosomes rather than46. This is called Down Syndrome or Trisomy 21.
  • 4. This is a picture of all the chromosomes your baby will have if they have Trisomy 21.As you can see the chromosome pair 21 is the pair that has 3 chromosomes instead of 2.
  • 5. About Down Syndrome
    A child with Down Syndrome is at risk for things like heart defects, intestinal defects, vision problems, hearing loss, infections, thyroid problems, leukemia and memory loss. These sicknesses are curable so your child will most likely lead a healthy life.
    Although your baby will still look like you and your partner there are some physical traits that babies with Down Syndrome share like, eyes that slant upward, small ears that may fold over a little at the top, a small mouth, making the tongue appear large, a small nose with a flattened nasal bridge, a short neck, small hands and feet, low muscle tone, and short stature in childhood and adulthood.
    Although Down Syndrome is considered a mental disability your child will still be able to do most things that unaffected children can such as walking, talking, and getting potty trained. The seriousness of the intellectual disability is usually within the moderate range.
    Your child will still be able to go to school and could even graduate from high school and go on to other collegiate programs. Once they get older it is within reach for them to have normal jobs and support themselves, although it will be difficult and they most likely will need outside help.
  • 6. Another important thing that these parents need to understand is that a child with down syndrome can still learn and go to school, they just learn a little slower and usually end up in a special class by about 2nd grade. It is completely in their child's reach to end up graduating from high school and maybe even going on to college.
    Although Down Syndrome is considered a mental disability your child will still be able to do most things that unaffected children can such as walking, talking, and getting potty trained. The seriousness of the intellectual disability is usually within the moderate range.
    Your child will still be able to go to school and could even graduate from high school and go on to other collegiate programs. Once they get older it is within reach for them to have normal jobs and support themselves, although it will be difficult and they most likely will need outside help.
  • 7. What would life be like with a child that has Down Syndrome?
    There are no treatments for children that have Down Syndrome but that doesn’t mean your life or their life will be ruined. There will be some obstacles that you wouldn’t have to go through if your child didn’t have Down Syndrome, however. These include extra medical attention, since children with Down Syndrome have increased risks for certain illnesses, spending extra time with them to make sure they are progressing academically, emotionally, and socially, seeking out different outreach programs and groups for support, and dealing with how to divide time between your child with Down Syndrome and your normal child if you have one. I will give you some links to websites and groups that help give parenting advice as well as extra support from real people that are dealing with exactly what you are .
  • 8. Lastly,
    I will make sure that while I am providing the parents with this information about Trisomy 21 that I say frequently that down syndrome is a genetic disease that isn’t a burden. In fact, most families I talk to that have raised a child with down syndrome have said it has been a gift and that their child has taught them so much more than they would have ever imagined. Children with Down Syndrome are usually very sweet and loving and that is a gift in itself.
  • 9. Links that will help you,
    http://downsyndrome.com/what-causes-down-syndrome/: Down Syndrome.com gives insight and advice on things like how to raise a child with Down Syndrome and what to expect from a child with Down Syndrome.
    http://www.ndss.org/index.php?option=com_content&view=article&id=59&Itemid=76 National Down Syndrome Society
    http://www.familiesexploringdownsyndrome.org/ Families Exploring Down Syndrome
  • 10. Bibliography
    http://www.marchofdimes.com/baby/birthdefects_downsyndrome.html:
    http://www.ndss.org/index.php?option=com_content&view=article&id=59&Itemid=76:
    http://www.ucsfhealth.org/education/down_syndrome/:
    http://downsyndrome.com/what-causes-down-syndrome/: Down Syndrome.com
    Teresa Brady from National Genetics Counselors Society.