What is down syndrome

Most screening tests involve a blood test and an ultrasound sonogram. The blood tests or serum screening tests measure quantities of various substances in the blood of the mother. New advanced prenatal screens are now able to detect chromosomal material from the fetus that is circulating in the maternal blood.

These tests are not invasive like the diagnostic tests below , but they provide a high accuracy rate. Still, all of these screens will not definitively diagnose Down syndrome. Prenatal screening and diagnostic tests are now routinely offered to women of all ages.

The diagnostic procedures available for prenatal diagnosis of Down syndrome are chorionic villus sampling CVS and amniocentesis. Amniocentesis is usually performed in the second trimester between 15 and 20 weeks of gestation, CVS in the first trimester between 9 and 14 weeks.

Down syndrome is usually identified at birth by the presence of certain physical traits: low muscle tone, a single deep crease across the palm of the hand, a slightly flattened facial profile and an upward slant to the eyes. Because these features may be present in babies without Down syndrome, a chromosomal analysis called a karyotype is done to confirm the diagnosis.

They photograph the chromosomes and then group them by size, number, and shape. By examining the karyotype, doctors can diagnose Down syndrome. Another genetic test called FISH can apply similar principles and confirm a diagnosis in a shorter amount of time.

Individuals with Down syndrome are becoming increasingly integrated into society and community organizations, such as school, health care systems, work forces, and social and recreational activities.

Individuals with Down syndrome possess varying degrees of cognitive delays, from very mild to severe. Most people with Down syndrome have cognitive delays that are mild to moderate. Due to advances in medical technology, individuals with Down syndrome are living longer than ever before. In , children with Down syndrome were expected to survive to age nine. With the discovery of antibiotics, the average survival age increased to 19 or More and more Americans are interacting with individuals with Down syndrome, increasing the need for widespread public education and acceptance.

These downloadable versions of the Preferred Language Guide are available to print and distribute:. Being an Ambassador helps me to understand other people with disabilities and how I can help get more rights for people with Down Syndrome.

Donate to NDSS. What is Down Syndrome? What are chromosomes? They're thread-like structures within each cell and are made up of genes. Genes provide the information that decides our traits, from our hair color to whether we're girls or boys.

Most people have 23 pairs of chromosomes — half are from your mom and half are from your dad — for a total of But a baby with Down syndrome has an extra chromosome 47 instead of 46 or one chromosome has an extra part. This extra genetic material causes problems with the way their bodies develop. You have probably seen people who have Down syndrome. They have certain physical features, such as a flatter face and upward slanting eyes.

They are usually smaller than most kids their age. The needs of some kids with Down syndrome are best met in a specialized program. But many kids with Down syndrome go to school and enjoy the same activities as other kids their age. Being in a regular classroom known as inclusion , when appropriate, is good for both the child with Down syndrome and the other kids.

A few kids with Down syndrome go on to college. Many transition to semi-independent living. Others continue to live at home but hold jobs and find their own success in the community.

Your school district's child study team can work with you to find what's best for your child. Reviewed by: Mary L. Gavin, MD. Larger text size Large text size Regular text size.

What Is Down Syndrome? What Causes Down Syndrome? Medical problems that happen more often with Down syndrome include: thyroid problems stomach and intestinal problems, including celiac disease seizures breathing problems, including sleep apnea and asthma obesity infections, including ear infections and pneumonia childhood leukemia People with Down syndrome sometimes have an unstable upper spine and should be checked by a doctor every year or sooner if they have symptoms, such as neck pain, walking funny, or loss of bladder or bowel control.

How Is Down Syndrome Diagnosed? Two types of prenatal tests can look for Down syndrome in a fetus: Screening tests estimate the chances that a fetus has Down syndrome. Diagnostic tests can tell if the fetus actually has the condition. Screening tests include: Nuchal translucency testing. This test is done between weeks 11—14 of pregnancy. It uses ultrasound to measure the clear space in the folds of tissue behind a developing baby's neck. Babies with Down syndrome and other chromosomal problems tend to have fluid buildup there, making the space look larger.

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