Down syndrome, also known as trisomy 21, is a genetic condition that affects approximately 1 in every 700 babies born in the United States.

It is caused by an extra copy of the 21st chromosome and can lead to developmental delays and intellectual disability. For expecting mothers who have learned that their baby has Down syndrome, the news can be overwhelming and confusing.

This guide aims to provide some basic information to help expectant mothers understand what Down syndrome is, how it is diagnosed, and what the future may hold for their child.

What Causes Down Syndrome?

Down syndrome occurs when there is an extra copy of chromosome 21. This extra genetic material can cause developmental and physical problems. Most cases of Down syndrome are not inherited, but occur spontaneously at the time of conception.

There is no known cause for the presence of an extra chromosome, but it is more likely to occur in older mothers. Women over the age of 35 are more likely to have a baby with Down syndrome than younger women.

Diagnosing Down Syndrome

Down syndrome can be diagnosed during pregnancy or after birth. Prenatal screening tests can help identify babies who may be at higher risk for Down syndrome.

These tests include blood tests and ultrasound exams, which can detect certain markers that may indicate a higher risk. Prenatal diagnostic tests, such as chorionic villus sampling (CVS) or amniocentesis, can confirm a diagnosis of Down syndrome.

These tests involve removing a sample of cells from the placenta or amniotic fluid and testing them for the presence of the extra chromosome.

What Are the Symptoms of Down Syndrome?

Individuals with Down syndrome may have a range of physical and intellectual symptoms. Some common physical features of Down syndrome include:.

Small head and ears
Almond-shaped eyes that slant upwards
A flat facial profile
A small mouth and tongue that may protrude
A single crease on the palm of the hand
A short neck and small hands and feet

Intellectual symptoms of Down syndrome vary, but most individuals will have some degree of developmental delay. They may also have difficulty with speech and language, as well as with motor skills.

However, with early intervention and appropriate therapies, many individuals with Down syndrome are able to lead happy and fulfilling lives.

What Is the Treatment for Down Syndrome?

There is no cure for Down syndrome, but there are many treatments and interventions that can help manage the symptoms.

Early intervention services, such as physical therapy, occupational therapy, and speech therapy, can help children with Down syndrome develop important skills and reach their full potential. In addition, special education services can help children with Down syndrome succeed academically.

In some cases, medication may be recommended to manage certain medical conditions that are commonly associated with Down syndrome, such as thyroid problems and heart disease.

What Is the Life Expectancy for Individuals with Down Syndrome?

Individuals with Down syndrome have a slightly shorter life expectancy than those without the condition, but with progress in medical treatment, life expectancy is increasing.

According to the National Down Syndrome Society, the average life expectancy for an individual with Down syndrome is now 60 years. Factors that can affect life expectancy include the severity of associated medical conditions and the availability of medical care.

How Can Parents Prepare for the Birth of a Child with Down Syndrome?

Learning that your child will be born with Down syndrome can be a challenging experience, but there is support available.

Parents can seek out support groups and resources for families with Down syndrome, as well as for parents who are expecting a child with Down syndrome. In addition, parents can work with their healthcare team to develop a plan for their child’s care and services that they may need.

It is important to remember that with the right support and treatment, individuals with Down syndrome can lead happy and fulfilling lives.

Conclusion

Down syndrome is a genetic condition that can cause developmental delays and intellectual disability. It can be diagnosed before or after birth, and there is no cure.

However, with early intervention and appropriate therapies, many individuals with Down syndrome are able to lead happy and fulfilling lives. For parents who are expecting a child with Down syndrome, there are support groups and resources available to help them prepare for the birth of their child and the journey ahead.