Down syndrome is one of the most common genetic birth defects. It affects about 1 in babies. Adults with Down syndrome may live about 60 years, but this can vary. When a baby is conceived, a normal egg cell and normal sperm cell start with 46 chromosomes. The egg and sperm cells then divide in half. The egg and sperm cells then have 23 chromosomes each.
When a sperm with 23 chromosomes fertilizes an egg with 23 chromosomes, the baby will then have a complete set of 46 chromosomes. Half are from the father and half are from the mother. But sometimes an error occurs when the 46 chromosomes are being divided in half.
An egg or sperm cell may keep both copies of chromosome number 21, instead of just 1 copy. If this egg or sperm is fertilized, then the baby will have 3 copies of chromosome number This is called trisomy Sometimes the extra number 21 chromosome or part of it is attached to another chromosome in the egg or sperm. This may cause translocation Down syndrome.
This is the only form of Down syndrome that may be inherited from a parent. A rare form is called mosaic trisomy This is when an error in cell division happens after the egg is fertilized. People with this syndrome have both normal cells and some cells with an extra chromosome number This risk increases with each year of age, especially after age But younger women are more likely to have babies than older women.
So most babies with Down syndrome are born to women younger than Chromosome problems such as Down syndrome can often be diagnosed before birth. This is done by looking at cells in the amniotic fluid or from the placenta. This is a noninvasive prenatal screening. These tests are very accurate. Fetal ultrasound during pregnancy can also show the possibility of Down syndrome. Problems from Down syndrome may not be seen with ultrasound. After birth, your baby may be diagnosed with a physical exam.
The healthcare provider may also take a blood sample. This is checked in a lab to find the extra chromosome. There is no cure for Down syndrome. But a child with Down syndrome may need treatment for problems such as:. Heart defects. About half of babies with Down syndrome have heart defects. Some defects are minor and can be treated with medicines. Others may need surgery. But it generally can find the disorder. The screening ultrasound looks at the amount of amniotic fluid present.
Extra fluid means there is a problem. These tests look at various levels of certain substances such as alpha-fetoprotein, human chorionic gonadotropin, estriol to determine risk. Fetal ultrasound during pregnancy can also show the possibility of Down syndrome.
Problems from Down syndrome may not be seen with ultrasound. Diagnostic tests are done by looking at cells in the amniotic fluid or from the placenta. These tests include:.
Chorionic villus sampling. This test examines cells from the placenta. This tests the fluid from the sac surrounding the baby amniotic fluid. Percutaneous umbilical blood sampling. This tests blood from the umbilical cord. All 3 of these tests look for characteristic changes in the chromosomes that occur in a Down syndrome diagnosis. After birth, your baby may be diagnosed with a physical exam. The healthcare provider may also take a blood sample. This is checked in a lab to find the extra chromosome.
There is no cure for Down syndrome. But a child with Down syndrome may need treatment for problems such as:. Heart defects. About half of babies with Down syndrome have heart defects.
Some defects are minor. These can be treated with medicines or they will fix themselves on their own. Others may need surgery. All babies with Down syndrome should have an echocardiogram heart ultrasound and be looked at by a pediatric cardiologist. This exam and test should be done shortly after birth. This is so that any heart defects can be found and treated correctly.
Intestinal problems. Some babies with Down syndrome are born with intestinal problems that need surgery. Vision problems.
Common problems include crossed eyes, nearsightedness or farsightedness, and cataracts. Most eyesight problems can be made better with eyeglasses, surgery, or other treatments.
Your child should see an eye doctor pediatric ophthalmologist before they turn 1 year old. Hearing loss. This is caused by fluid in the middle ear, a nerve defect, or both. Your child should get regular hearing tests so any problems can be treated early.
This will help with language development. Other health problems. Children with Down syndrome may have thyroid problems and leukemia. They also tend to have many colds, as well as bronchitis and pneumonia. Your child should get regular medical care and stay up to date on vaccines. Learning problems. These vary widely from child to child.
They can be mild, moderate, or severe. But most learning problems are mild to moderate. Many children will receive early intervention and special education.
Some people claim that giving high-dose vitamins to children with Down syndrome will improve their learning and development problems.
In , the life expectancy for people with Down syndrome was 25 years; however today, it is 60 years. Advances in cardiology have significantly contributed to this rapid increase. As science and technology continue to improve and the intricacies of Down syndrome are explored and discovered, it is expected that the life expectancy for people with Down syndrome will continue to increase too.
Today, children with Down syndrome are included in regular academic classrooms in schools across the country. In some instances they are integrated into specific courses, while in other situations students are fully included in the regular classroom for all subjects.
The degree of mainstreaming is based in the abilities of the child. Many people with Down syndrome have gone to college, live independently and hold jobs. These individuals are hard workers and dedicated employees.
A stimulating home environment, positive support from family and friends, quality educational programs and good healthcare enable people with Down syndrome to develop their full potential and lead fulfilling lives. Be creative, persistent and set high expectations. Despite the advances, children with Down syndrome continue to have a higher risk of developing certain health conditions, such as heart disease, gastrointestinal abnormalities and dementia.
Early diagnosis and treatment of these associated conditions leads to better outcomes. With regular medical care and a solid support system, children with Down syndrome can lead long, full and happy lives. Learn about how their care transitioned as they grew up. Trisomy 21 Down Syndrome. Contact Us. Contact Us Online. As your child with Down syndrome grows, he is at greater risk for certain medical problems and may develop: Congenital heart disease Gastrointestinal abnormalities Musculoskeletal and movement problems Spine disorders such as scoliosis, kyphosis or lordosis Endocrinologic disorders Epilepsy Hearing loss Speech apraxia difficulty making speech sounds Sleep disorders Feeding disorders Developmental disabilities learning disabilities, intellectual disabilities and autism Problems in any of these areas can affect your child's development and behavior.
Symptoms of Down syndrome may include: Distinctive facial features Mild to moderate intellectual disabilities Heart, kidney and thyroid issues Numerous respiratory infections, from colds to bronchitis and pneumonia Skeletal abnormalities, including spine, hip, foot and hand disorders Flexible joints and weak, floppy muscles Overly quiet baby Less responsive to stimuli Vision and hearing impairment Inwardly curved little finger Wide space between the great and second toe Single, deep crease on the soles of the feet and one or both hands.
Blood tests , which can help determine drug usage and effectiveness, biochemical diseases and organ function.
X-rays , which produce images of bones. Magnetic resonance imaging MRI , which uses a combination of large magnets, radiofrequencies and a computer to produce detailed images of organs and structures within the body.
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