Down syndrome is a genetic disorder caused when abnormal cell division results in an extra full or partial copy of chromosome 21. This extra genetic material causes the developmental changes and physical features of Down syndrome.
Down syndrome varies in severity among individuals, causing lifelong intellectual disability and developmental delays. It’s the most common genetic chromosomal disorder and cause of learning disabilities in children. It also commonly causes other medical abnormalities, including heart and gastrointestinal disorders.
Better understanding of Down syndrome and early interventions can greatly increase the quality of life for children and adults with this disorder and help them live fulfilling lives.
Each person with Down syndrome is an individual — intellectual and developmental problems may be mild, moderate or severe. Some people are healthy while others have significant health problems such as serious heart defects.
Children and adults with Down syndrome have distinct facial features. Though not all people with Down syndrome have the same features, some of the more common features include:
- Flattened face
- Small head
- Short neck
- Protruding tongue
- Upward slanting eye lids (palpebral fissures)
- Unusually shaped or small ears
- Poor muscle tone
- Broad, short hands with a single crease in the palm
- Relatively short fingers and small hands and feet
- Excessive flexibility
- Tiny white spots on the colored part (iris) of the eye called Brushfield’s spots
- Short height
Human cells normally contain 23 pairs of chromosomes. One chromosome in each pair comes from your father, the other from your mother.
Down syndrome results when abnormal cell division involving chromosome 21 occurs. These cell division abnormalities result in an extra partial or full chromosome 21. This extra genetic material is responsible for the characteristic features and developmental problems of Down syndrome. Any one of three genetic variations can cause Down syndrome:
- Trisomy 21. About 95 percent of the time, Down syndrome is caused by trisomy 21 — the person has three copies of chromosome 21, instead of the usual two copies, in all cells. This is caused by abnormal cell division during the development of the sperm cell or the egg cell.
- Mosaic Down syndrome. In this rare form of Down syndrome, a person has only some cells with an extra copy of chromosome 21. This mosaic of normal and abnormal cells is caused by abnormal cell division after fertilization.
- Translocation Down syndrome. Down syndrome can also occur when a portion of chromosome 21 becomes attached (translocated) onto another chromosome, before or at conception. These children have the usual two copies of chromosome 21, but they also have additional genetic material from chromosome 21 attached to another chromosome.
There are no known behavioral or environmental factors that cause Down syndrome.
Is it inherited?
Most of the time, Down syndrome isn’t inherited. It’s caused by a mistake in cell division during early development of the fetus.
Translocation Down syndrome can be passed from parent to child. However, only about 3 to 4 percent of children with Down syndrome have translocation and only some of them inherited it from one of their parents.
When balanced translocations are inherited, the mother or father has some rearranged genetic material from chromosome 21 on another chromosome, but no extra genetic material. This means he or she has no signs or symptoms of Down syndrome, but can pass an unbalanced translocation on to children, causing Down syndrome in the children.
Some parents have a greater risk of having a baby with Down syndrome. Risk factors include:
- Advancing maternal age. A woman’s chances of giving birth to a child with Down syndrome increase with age because older eggs have a greater risk of improper chromosome division. A woman’s risk of conceiving a child with Down syndrome increases after 35 years of age. However, most children with Down syndrome are born to women under age 35 because younger women have far more babies.
- Being carriers of the genetic translocation for Down syndrome. Both men and women can pass the genetic translocation for Down syndrome on to their children.
- Having had one child with Down syndrome. Parents who have one child with Down syndrome and parents who have a translocation themselves are at an increased risk of having another child with Down syndrome. A genetic counselor can help parents assess the risk of having a second child with Down syndrome.
People with Down syndrome can have a variety of complications, some of which become more prominent as they get older. These complications can include:
- Heart defects. About half the children with Down syndrome are born with some type of congenital heart defect. These heart problems can be life-threatening and may require surgery in early infancy.
- Gastrointestinal (GI) defects. GI abnormalities occur in some children with Down syndrome and may include abnormalities of the intestines, esophagus, trachea and anus. The risk of developing digestive problems, such as GI blockage, heartburn (gastroesophageal reflux) or celiac disease, may be increased.
- Immune disorders. Because of abnormalities in their immune systems, people with Down syndrome are at increased risk of developing autoimmune disorders, some forms of cancer, and infectious diseases, such as pneumonia.
- Sleep apnea. Because of soft tissue and skeletal changes that lead to the obstruction of their airways, children and adults with Down syndrome are at greater risk of obstructive sleep apnea.
- Obesity. People with Down syndrome have a greater tendency to be obese compared with the general population.
- Spinal problems. Some people with Down syndrome may have a misalignment of the top two vertebrae in the neck (atlantoaxial instability). This condition puts them at risk of serious injury to the spinal cord from overextension of the neck.
- Leukemia. Young children with Down syndrome have an increased risk of leukemia.
- Dementia. People with Down syndrome have a greatly increased risk of dementia — signs and symptoms may begin around age 50. Having Down syndrome also increases the risk of developing Alzheimer’s disease.
- Other problems. Down syndrome may also be associated with other health conditions, including endocrine problems, dental problems, seizures, ear infections, and hearing and vision problems.
For people with Down syndrome, getting routine medical care and treating issues when needed can help with maintaining a healthy lifestyle.
Life spans have increased dramatically for people with Down syndrome. Today, someone with Down syndrome can expect to live more than 60 years, depending on the severity of health problems.
There’s no way to prevent Down syndrome. If you’re at high risk of having a child with Down syndrome or you already have one child with Down syndrome, you may want to consult a genetic counselor before becoming pregnant.
A genetic counselor can help you understand your chances of having a child with Down syndrome. He or she can also explain the prenatal tests that are available and help explain the pros and cons of testing.
The American College of Obstetricians and Gynecologists recommends offering the option of screening tests and diagnostic tests for Down syndrome to all pregnant women, regardless of age.
- Screening tests can indicate the likelihood or chances that a mother is carrying a baby with Down syndrome. But these tests can’t tell for sure or diagnose whether the baby has Down syndrome.
- Diagnostic tests can identify or diagnose whether your baby has Down syndrome.
Your health care provider can discuss the types of tests, advantages and disadvantages, benefits and risks, and the meaning of your results. If appropriate, your provider may recommend that you talk to a genetics counselor.
Screening tests during pregnancy
Screening for Down syndrome is offered as a routine part of prenatal care. Although screening tests can only identify your risk of carrying a baby with Down syndrome, they can help you make decisions about more-specific diagnostic tests.
Screening tests include the first trimester combined test and the integrated screening test.
The first trimester combined test
The first trimester combined test, which is done in two steps, includes:
- Blood test. This blood test measures the levels of pregnancy-associated plasma protein-A (PAPP-A) and the pregnancy hormone known as human chorionic gonadotropin (HCG). Abnormal levels of PAPP-A and HCG may indicate a problem with the baby.
- Nuchal translucency test. During this test, an ultrasound is used to measure a specific area on the back of your baby’s neck. This is known as a nuchal translucency screening test. When abnormalities are present, more fluid than usual tends to collect in this neck tissue.
Using your age and the results of the blood test and the ultrasound, your doctor or genetic counselor can estimate your risk of having a baby with Down syndrome.
Integrated screening test
The integrated screening test is done in two parts during the first and second trimesters of pregnancy. The results are combined to estimate the risk that your baby has Down syndrome.
- First trimester. Part one includes a blood test to measure PAPP-A and an ultrasound to measure nuchal translucency.
- Second trimester. The quad screen measures your blood level of four pregnancy-associated substances: alpha fetoprotein, estriol, HCG and inhibin A.
Diagnostic tests during pregnancy
If your screening test results are positive or worrisome, or you’re at high risk of having a baby with Down syndrome, you might consider more testing to confirm the diagnosis. Your health care provider can help you weigh the pros and cons of these tests.
Diagnostic tests that can identify Down syndrome include:
- Chorionic villus sampling (CVS). In CVS, cells are taken from the placenta and used to analyze the fetal chromosomes. This test is typically performed in the first trimester, between 10 and 13 weeks of pregnancy. The risk of pregnancy loss (miscarriage) from a CVS is very low.
- Amniocentesis. A sample of the amniotic fluid surrounding the fetus is withdrawn through a needle inserted into the mother’s uterus. This sample is then used to analyze the chromosomes of the fetus. Doctors usually perform this test in the second trimester, after 15 weeks of pregnancy. This test also carries a very low risk of miscarriage.
Preimplantation genetic diagnosis is an option for couples undergoing in vitro fertilization who are at increased risk of passing along certain genetic conditions. The embryo is tested for genetic abnormalities before it’s implanted in the womb.
Diagnostic tests for newborns
After birth, the initial diagnosis of Down syndrome is often based on the baby’s appearance. But the features associated with Down syndrome can be found in babies without Down syndrome, so your health care provider will likely order a test called a chromosomal karyotype to confirm diagnosis. Using a sample of blood, this test analyzes your child’s chromosomes. If there’s an extra chromosome 21 in all or some cells, the diagnosis is Down syndrome.
Early intervention for infants and children with Down syndrome can make a major difference in improving their quality of life. Because each child with Down syndrome is unique, treatment will depend on individual needs. Also, different stages of life may require different services.
If your child has Down syndrome, you’ll likely rely on a team of specialists that can provide medical care and help him or her develop skills as fully as possible. Depending on your child’s particular needs, your team may include some of these experts:
- Primary care pediatrician to coordinate and provide routine childhood care
- Pediatric cardiologist
- Pediatric gastroenterologist
- Pediatric endocrinologist
- Developmental pediatrician
- Pediatric neurologist
- Pediatric ear, nose and throat (ENT) specialist
- Pediatric eye doctor (ophthalmologist)
- Speech pathologist
- Physical therapist
- Occupational therapist