Down syndrome is a common genetic disorder. It occurs in one out of 700800 live births.

Down syndrome causes birth defects, medical problems,

and some degree of intellectual disability .
In fact, down syndrome is the most common genetic cause of mild to
moderate intellectual disabilities.
Causes
Chromosomes contain the genetic makeup of your body. They occur in 23
pairs within the body. Down syndrome is a problem with chromosome pair
21. There is extra genetic material on this chromosome which may be
caused by:

An extra chromosomethis type is called Trisomy 21. This results

from an error in cell division in the egg or sperm.

Extra chromosomes in some cellscalled Mosaic Trisomy 21.

Part of the chromosome has broken off and reattached to another

chromosomecalled translocation trisomy. In about one third of
individuals, the translocation is inherited from a parent.
Risk Factors
Factors that increase the chance for Down syndrome include:

Genetics: If either parent is a carrier of Translocation Down

syndrome, there is an increased risk.

Age: The chance of having a child with Down syndrome increases

after a woman reaches age 35.

Sex: More boys than girls are born with Down syndrome.

History of a previous child with Down syndrome

Symptoms
Infants born with Down syndrome may have some or all of the following
physical features:

Muscle hypotonia, low muscle tone

Flat facial features, a somewhat depressed nasal bridge and a small

nose
Upward slanted eyes, small skin folds on the inner corner of the eyes
Short neck
Misshaped ears
White spots on the colored part of the eye
Single skin crease in the palm of the hand
Excess flexibility in joints
Heart defects
Sight and hearing problems
Large and protruding tongue
Fifth finger has one flexion furrow instead of two
Excessive space between large and second toe

The degree of medical problems and intellectual disability is different for

each person. Talents, abilities, and pace of development will be different
too. People with Down syndrome may be born with or develop:

Vision problems

Hearing loss

Heart defects

Increased incidence of acute leukemia

Frequent ear infections and increased susceptibility to infection in

general

Gastrointestinal obstruction (imperforate anus and similar problems)

Esophageal atresia or duodenal atresia

Sleep problems (eg, blocked airways during sleep, daytime sleepiness,

sleep anxiety, sleep walking)

Increased incidence of dementia in older ages

Instability of the back bones at the top of the neck, can result in
compression injury of the spinal cord

Urinary system defects

High blood pressure in the lungs

Seizures

An under-active thyroid ( hypothyroidism )

Slow growth

Late to sit, walk, toilet train

Speech problems

Obesity

Emotional problems

Most of these health problems are treatable. The majority of people born
with Down syndrome today have a life expectancy of about 55 years.
Diagnosis
Doctors can usually identify a child born with Down syndrome at birth.
When Down syndrome is suspected, a blood test will be done to confirm it.
Down syndrome may also be diagnosed before birth. It may happen during
a screening test or a diagnostic test.
Screening Tests
A screening test is done to estimate the risk of having a child with Down
syndrome. Your doctor will use the results of a variety of blood tests and the
mother's age to estimate the risk. Blood tests may include:

Triple screen
Quadruple screen
Massively parallel sequencing (MPS)
Alpha-fetoprotein Plus

Screening may be done as early as 11 weeks. It may also include

bothultrasound imaging and blood screening. There should be a follow-up
in the second trimester for those who screen negative.
A small amount of women who have screening will be given false-positive
readings. This means the test indicates Down syndrome even when it does
not exist.
Diagnostic Tests
Diagnostic tests will tell whether or not the fetus actually has Down
syndrome. These tests include:

Chorionic villus sampling (CVS)usually done between 10 and 12

weeks

Amniocentesis usually done between 12 and 20 weeks of gestation

Percutaneous umbilical blood sampling (PUBS)usually done after

20 weeks

These tests are about 98%-99% accurate. Each test requires that a small
piece of tissue is removed from the placenta or umbilical cord. This creates
a small risk ofmiscarriage with these tests.
Amniocentesis

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Treatment
There is no cure for Down syndrome.
Treatment may be needed for severe problems or to help with
developmental delays. Living at home and receiving special therapy helps
children with Down syndrome achieve their full potential. Most people with
the condition can actively participate in the community. This includes
activities at schools, jobs, and various leisure activities. Some people with
Down syndrome live with family, some with friends, and some live
independently.

Baby Care
Some newborns may need surgery to repair serious medical problems, like
heart defects.
Infants with Down syndrome may take longer to feed. A child with Down
syndrome will also start talking, playing, and performing other activities
later than normal.

Learning opportunities may be increased with:

School programs designed to meet the child's special needs.
Mainstreaming children into regular public school classes (with
additional support as needed)in children who have accomplished
academic milestones
Rehabilitation Services

Speech, physical, and occupational therapy may improve abilities. Therapy

can help with speech, walking, and performing activities of daily living.
Social Services
Professional support helps a family cope with caring for a child with birth
defects and intellectual disability. Mental health professionals offer help
with managing emotional problems.
Prevention
There are no guidelines for preventing Down syndrome. If you have
concerns about having a child with Down syndrome, consider getting
genetic counseling before becoming pregnant.
Women's Health: How Much Do You Know?
As a woman, your health concerns are as unique as your body. How you
take care of yourself has a huge impact on your future, affecting everything
from your ability to have children to your risk of heart disease. There's no

substitute for good health, and when it's gone, it's often gone for good.
Don't let it pass you by. Test your smarts with this women's health quiz.