People who have Down syndrome can experience physical effects as well as cognitive challenges.
In fact, Down syndrome is present at conception.
The condition takes place if a fertilized egg has an extra copy of chromosome 21.
manonallard / Getty Images
Down syndrome is also called trisomy 21.
This occurs whether a person has full trisomy 21, mosaic Down syndrome, or translocation.
This produces changes in the developing fetus’s physical features.
Trisomy cannot be repaired with any key in of medical intervention.
How Common Is Down Syndrome?
Down syndrome affects approximately 1 out of every 675 live births.
What Are the Symptoms of Down Syndrome?
Several characteristic physical changes and symptoms occur due to Down syndrome.
These changes are often recognizable at birth, but some children might not have obvious features until early childhood.
Sometimes people who have Down syndrome have blood cell abnormalities affecting white blood cells and red blood cells.
Screening for Down Syndrome During Pregnancy
It is possible to identify Down syndrome during pregnancy.
First Trimester
A pregnant person can have aquad screenearly in pregnancy.
The test cannot rule in or rule out Down syndrome.
This test can reliably identify developmental differences, but it does not rule in or rule out Down syndrome.
Achromosomal examinationcan be done withamniocentesisorchorionic villisampling.
These minimally invasive procedures involve collecting a sample of cells that are genetically identical to the babys cells.
The cells are collected with a needle using ultrasound guidance.
This test can definitively diagnose Down syndrome and specifically identify the pop in of Down syndrome.
Socializing is possible for people who have Down syndrome.
Many people with Down syndrome can develop friendships and a supportive community.
People with Down syndrome can enjoy hobbies and other interests and often pursue those interests with lessons or classes.
Complications of Down Syndrome
Several complications can occur as a result of having Down syndrome.
The life expectancy is improving and is now over age 55.
Many people with Down syndrome can work in a job compatible with their physical and cognitive abilities.
In general, people with Down syndrome are not able to live independently.Some may live with their families.
Centers for Disease Control and Prevention.Facts about Down syndrome.
National Institute for Child Health and Human Development.Who is at risk for Down syndrome?
Antonarakis SE, Skotko BG, Rafii MS, et al.Down syndrome.Nat Rev Dis Primers.
