Down Syndrome

Down syndrome is a genetic condition that causes mild to serious physical and developmental problems. People with Down syndrome are born with an extra chromosome.

Causes of Down Syndrome #

• For most people, each cell in your body has 23 pairs of chromosomes. One chromosome in each pair comes from your mother and the other comes from your father.

• But with Down syndrome, something goes wrong and you get an extra copy of chromosome 21.

• That means you have three copies instead of two, which leads to the symptoms of Down syndrome. Doctors aren’t sure why this happens.

• There’s no link to anything in the environment or anything the parents did or didn’t do.

• While doctors don’t know what causes it, they do know that women 35 and older have a higher chance of having a baby with Down syndrome.

• If you’ve already had a child with Down syndrome, you’re more likely to have another one who has it as well.

• It’s not common, but it is possible to pass Down syndrome from parent to child. Sometimes, a parent has what experts call translocated genes.

• That means some of their genes aren’t in their normal place, perhaps on a different chromosome from where they’d usually be found.

Symptoms of Down Syndrome #

• Eyes that slant up at the outer corner

• Small ears

• Flat noses

• Protruding tongue

• Tiny white spots in the colored part of the eyes

• Short neck

• Small hands and feet

• Short stature

• Loose joints

• Weak muscle tone

Diagnosis of Down Syndrome #

Blood tests #

• Your doctor will measure the levels of a protein called PAPP-A and a hormone called hCG in your blood.

• Anything out of the normal range could mean a problem with the baby.

• If you’re at high risk for Down syndrome, they may also look for DNA from the baby in your blood, which they can examine for chromosome abnormalities.

Ultrasound #

Your doctor will look at a picture of your baby and measure the folds of tissue at the back of their neck. Babies with Down syndrome tend to have extra fluid there.

Chorionic villus sampling (CVS) #

This can be done during the first trimester, using cells taken from the placenta.

Amniocentesis #

Fluid is taken from the amniotic sac surrounding the baby, usually during the second trimester.

Percutaneous umbilical blood sampling (PUBS) #

This is also done in the second trimester using blood removed from the umbilical cord.

Treatment of Down Syndrome #

There’s no specific treatment for Down syndrome. But there is a wide range of physical and developmental therapies designed to help people with Down syndrome reach their full potential. The earlier you start them, the better. Each child will have different needs. Yours may benefit from:

• Physical, occupational, and speech therapy

• Specialized education services

• Social and recreation activities

• Programs that offer job training and teach self-care skills

You’ll also work closely with your child’s doctor to watch for and manage any health problems associated with the condition.