Down Syndrome is a genetic disorder caused by the presence of an extra chromosome 21. It affects approximately 1 in 800 babies born each year. Common characteristics include delays in physical and intellectual development, as well as potential health issues such as heart defects and hearing/vision loss. While Down Syndrome cannot be prevented, various screening tests during pregnancy can assess the risk and determine if a diagnostic test is needed to confirm the diagnosis. The accuracy of screening and diagnosis has improved screening and diagnosis.

1. Down Syndrome
Kelly Levinsky
laist.com/downsyndrome/photo113.htm
http://www.treatgene.com/5-hypotheses-causing-syndrome

2. Down Syndrome is a mental
retardation which affects 1 in 800
babies per year. Having a family
member with this disability allows
me to have a greater understanding
for it. Through my application
component I would like to bring a
better awareness to this disability,
and help get support for children
with it.
https://www.methodsofhealing.com/the-down-syndrome-in-children

3. What is Down
Syndrome?
• Also known as Trisomy 21
• Extra genetic material which causes a delay
in the way a child develops mentally and
physically.
• Developmental problems range from
moderate to serious.

4. http://reallifedownsyndrome-resources.blogspot.com

5. Types of Down
Syndrome
http://www.genethique.org/En/press/press/2011/February/07_11.html

6. Nondisjunction
• 3rd copy of chromosomes in every cell
• 95% of Down Syndrome cases
http://www.med.umich.edu/lrc/coursepages/m1/embryology/embryo/02prefertilization.htm

7. Mosaicism
• Happens when only some of the cells have
the extra 3rd copy
• 1-2% of Down Syndrome cases

8. Text
http://www.eyesite.co.za/cpd/article2.asp?mainbutton=activity&navbutton=article2

9. Translocation
• Happens when the long arm of
chromosome 21 is attached to another
chromosome
• 2-3% of Down Syndrome cases

10. Text
http://www.geneticsofpregnancy.com/encyclopedia/Reciprocal_translocation.aspx?pid=37&cid=126

11. Causes
• During conception 46 chromosomes are
passed from parent to child
• With Down Syndrome the child receives an
extra 21st chromosome giving the baby a
total of 47
• The extra chromosome causes the
delay

12. http://www.geneticsofpregnancy.com/encyclopedia/
Reciprocal_translocation.aspx?pid=37&cid=126

13. Effects
• Learning delays
• Other health problems
• Hearing and vision loss
• Heart defects
• Pulmonary hypertension
• Thyroid and respiratory problems

14. Characteristics

15. Prevention
• Down Syndrome cannot be prevented
• Woman who are 35 years of age and older
have a higher risk

16. Diagnosis
telegraph.uk.co

17. Screening Test
Tests the risk the fetus has of having Down Syndrome. Given to all
mother’s during pregnancy to see of a Diagnosis test is needed.

18. Nuchal Translucency
Testing
• Preformed between 11-14 weeks of
pregnancy
• Uses ultrasound to measure clear space in
folds of tissue behind a developing baby’s
neck.
• Babies with Down Syndrome contain
fluid there making the space appear
larger

19. http://www.shopninemoons.com/blog/2009/07/23/nuchal-translucency-

20. The Triple Screen
or Quadruple
Screen (Multiple
Marker Test)
• Preformed between 15-18
weeks of pregnancy
• Measures quantities of normal
substances in the mother’s
blood
http://health.allrefer.com/health/quadruple-screen-test-quadruple-screen.html

21. Integrated
Screen
• Preformed between 15-18 weeks of
pregnancy
• Uses results from 1st trimester screening
tests and blood tests with the 2nd trimester
quad screen to come up with most accurate
screening results.
•The test measures the quantities of
normal substances in the mother’s
blood.
http://www.wardelab.com/19-2.html

22. Genetic Ultrasound
• Checks ultrasound and blood tests for
physical traits and abnormalities associated
with Down Syndrome

23. http://www.fetal.com/Genetic%20Sono/01_what%20is%20gen%20us.html

24. Diagnosis Test
Determines if fetus has Down Syndrome.
(99% accurate)

25. Chronic Villus Sampling
• Preformed 8-12 weeks of Pregnancy
• Taking sample of placenta through cervix,
or through needle inserted in abdomen
• Carries greatest risk of miscarriage