(Edwards Syndrome)
What is Trisomy 18
What causes Trisomy 18
What are the signs and symptoms
What can a parent do
1. Trisomy 18, also known as Edwards Syndrome, is a chromosomal abnormality (condition) that happens when a third (or extra) #18 chromosome appears in each cell instead of the normal two #18 chromosomes in each cell.
2. Babies born with a Trisomy 18 have an extremely high mortality (death) rate:
a. The abnormalities of Trisomy 18 are usually not compatible with more than a few months of life
b. Many of these babies do not survive beyond the 1st week of life and may never be discharged from the hospital following birth
c. About 90% live only a few months
d. About 5-10% of these babies will survive the 1st year of life
e. Very few children have survived to teenage years, and then with severe handicaps.
1. Chromosomes are tiny string-like structures in all cells of the body.
2. Chromosomes serve as a blue print for the development of your body:
a. Chromosomes contain human gene pairs that determine traits of a person—like the color of your eyes and hair, how tall we are, etc.
b. If any of the chromosomes are abnormal, ALL cells of the body are affected.
3. Each person normally has 23 pairs of chromosomes or 46 in all.
4. We inherit one chromosome of each pair from our mother and one chromosome of each pair from our father.
5. Sometimes a baby is born with too many or to few chromosomes. Sometimes one or more of the chromosomes is broken or rearranged (translocation).
a. This extra, broken or rearranged chromosome leads to multiple abnormalities or birth defects.
6. Most cases of Trisomy 18 are not inherited but happen at random.
7. Trisomy 18 is not an uncommon syndrome; it affects 1 out of 3000-6000 births.
8. Trisomy 18 affects females 3 times more often than males.
9. The risk of having a child with Trisomy 18 increases as a woman gets older.
1. Low birth weight
2. Small head for size
3. Low set ears and/or hearing loss
4. Small mouth and jaw
5. Clenched hands with the index finger overlapping the 3rd and 5th fingers
6. Underdeveloped or abnormal development of the thumb
7. Short breastbone (sternum)
8. Club feet
9. Cleft lip
10. Congenital Heart defects:
a. Atrial septal defect (ASD): an abnormal opening or hole in the septum that divides the upper chambers of the heart in half
b. Ventricular septal defect (VSD): an abnormal opening or hole in the septum that divides the lower chambers of the heart in half
c. Other more serious life-threatening congenital heart defects; over 90% of babies with Trisomy 18 have a congenital heart defect
11. Congenital kidney defects
12. Mental retardation: Your baby may never
a. Talk
b. Turn over
c. Crawl or Walk
1. Visit your baby as often as you can
2. Hold and cuddle your baby
3. Feed your baby as able
4. Talk with your healthcare provider and/or a genetic counselor if you plan to have another child.
Reviewed/Revised:
11/05, 9/07
