Down syndrome

Down syndrome is the most common chromosomal disorder. About 1 in 800 babies are born with it.

Holly Menino sits down with Dr. Jennifer Goldman-Luthy, an assistant professor of pediatrics at the University of Utah and works in the University Pediatric Clinic and the University Hospital Nursery, on this episode of the Baby Your Baby Podcast. Together, they discuss Down syndrome, how it is diagnosed and how it impacts a newborn baby.

  What are the symptoms of Down syndrome?

  •  Facial features can include epicanthal folds (the way the eyelids cover the inner corner of the eye) and upslanting eyes, sometimes with white spots in the colored part of the eye (Brushfield spots); low set, small ears; flatter nose and flatter face; small mouth or tongue that sticks out.
  • The body can have: short neck with extra skin at the back of the neck, a single palmar crease, wide hands with shorter fingers, short stature, a deep groove between the first and second toes.
  • Mild to severe intellectual disability (most are mild to moderate).
  • Low muscle tone which can make it harder to roll over, sit up, and walk as early as other kids, and can make it hard to swallow safely.
  • Increased risk for: congenital heart defects, problems with development of the intestines or not swallowing safely, reflux, constipation, respiratory/breathing problems including sleep apnea, impaired hearing, vision problems like cataracts, celiac disease, Alzheimer’s disease, childhood leukemia or other blood disorders, thyroid conditions, problems with the stability of the upper spine, shorter attention span and impulsivity, delayed speech, repetitive mannerisms (tics), autism, and behavioral problems.

 How is it diagnosed?

During pregnancy:

  • Routine pregnancy screening could detect about 90% of babies with Down syndrome.
  • Not all choose to get the screening done. To learn about screenings and genetic testing listing to this episode of the Baby Your Baby Podcast.
  • So only about 50% of babies with Down syndrome are detected before delivery.

How can I learn more about Down syndrome?