In this Article

• Introduction to Down syndrome
• The Chromosomal Basis of Down syndrome
• Signs and Symptoms of Down Syndrome
• The Occurrence of Down syndrome
• Prenatal Screening and Diagnostic Testing
• A Diagnosis of Down Syndrome
• Down Syndrome and Associated Medical Disorders
• Newborns
• Infants and Preschool Children
• Early Intervention and Education
• Adolescence and Down syndrome
• Adults with Down syndrome
• Down Syndrome in the Workplace
• Future Research in Down Syndrome
• Questions and Answers About Down Syndrome
• Additional Resources for Information on Down Syndrome
• Down Syndrome Glossary
• Down Syndrome Index

A Diagnosis of Down Syndrome

A newborn baby with Down syndrome often has physical features the attending physician will most likely recognize in the delivery room. These may include a flat facial profile, an upward slant to the eye, a short neck, abnormally shaped ears, white spots on the iris of the eye (called Brushfield spots), and a single, deep transverse crease on the palm of the hand. However, a child with Down syndrome may not possess all of these features; some of these features can even be found in the general population.

To confirm the diagnosis, the doctor will request a blood test called a chromosomal karyotype. This involves "growing" the cells from the baby's blood for about two weeks, followed by a microscopic visualization of the chromosomes to determine if extra material from chromosome 21 is present.

Medical care for infants with Down syndrome should include the same well-baby care that other children receive.

When parents are told that their newborn baby has Down syndrome, it is not unusual for them to have feelings of sadness and disappointment. Many parents report that at the time their child is first diagnosed with Down syndrome and during the weeks that follow, they feel overwhelmed by feelings of loss and anxiety. While caring for a child with Down syndrome frequently requires more time and energy, parents of newborn children with Down syndrome should seek the advice of a knowledgeable pediatrician and/or the many Down syndrome support groups and organizations available (see Additional Resources for a listing).

The doctor making the initial diagnosis of Down syndrome has no way of knowing the intellectual or physical capabilities this child, or any other child, may have. Children and adults with Down syndrome have a wide range of abilities. A person with Down syndrome may be very healthy or they may present unusual and demanding medical and social problems at virtually every stage of life. However, every person with Down syndrome is a unique individual, and not all people with Down syndrome will develop all the medical disorders discussed below.

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