The Diagnosis of Down Syndrome
Today, the diagnosis of Down syndrome is usually made in one of two ways - either shortly after birth or during a pregnancy (prenatally). Regardless of when the diagnosis is made, it is almost always a shock. There are some things that you can do to help you deal with hearing the news that your baby has Down syndrome.
At Birth
Even with prenatal testing, most infants with Down syndrome are diagnosed shortly after birth. Most often this is because the baby’s doctor notices that the baby had some distinctive facial or physical features often seen in Down syndrome.
Infants with Down syndrome may have smaller heads than other infants, small up-slanting eyes, a somewhat flattened nose and small mouth with a protruding tongue. They can also have differences in their hands and feet. They may have a single crease across their palm (single palmar crease), small hands with short fingers, and a somewhat larger space between their big and second toes. Most infants with Down syndrome have low muscle tone or hypotonia. Occasionally infants with Down syndrome are born with other more serious birth defects such as heart defects and gastrointestinal defects.
If your doctor notices that your child had some of these features, she may become suspicious that the baby has Down syndrome. Your doctor will then order a chromosome analysis (also referred to as a karyotype) to confirm the diagnosis. A chromosome study is a blood test that looks at the baby’s chromosomes under a microscope. Most individuals have 46 chromosomes. People with Down syndrome have an extra number 21 chromosome, with a total of 47 chromosomes. It usually takes a few days to get the results of this blood test.
