Down Syndrome (Trisomy 21)

There are three types of Down syndrome: trisomy 21 (nondisjunction) accounts for 95% of cases, translocation accounts for about 4% and mosaicism accounts for about 1% (NDSS, 2014). All are associated with varying levels of intellectual disability (typically mild to moderate), characteristic facies, and hypotonia in infancy. Approximately 50% of children born with trisomy 21 have a cardiac defect (ASD is most common). Approximately 15% of children with trisomy 21 have hypothyroidism. 

Screening

  • Sequential Integrated Screening: two-step, non-invasive screening available in some states.
          1. Step 1: Maternal blood test (PAPP-A (pappalysin 1, or pregnancy-associated plasma protein A) + hCG, and a fetal nuchal translucency
              ultrasound performed at between 10-14 weeks gestation
          2. Step 2: Maternal blood test (also known as a "quad screen") (alpha fetoprotein, unconjugated estriol, hCG, dimeric inhibin A)
              performed at between 15-20 weeks gestation.

Assessment

  • Amniocentesis
  • Chorionic Villus Sampling (CVS)
  • Ultrasound
Associated conditions to consider...
  • ADHD
  • Alzheimer's disease (increased risk and earlier than typical presentation)
  • Anesthesia
  • Autism
  • Atlantoaxial Instability
  • Blood Diseases
  • ​Celiac disease
  • Dental Issues
  • Ear, Nose & Throat Issues
  • Endocrine Issues
  • Gastrointestinal Issues
  • Cardiovascular complications
  • Mental Health (depression, OCD, behavioral issues are common)
  • Sleep Apnea
  • Vision Issues

Position Papers

Health care information for families of children with Down Syndrome (AAP, 2013)
File Size: 205 kb
File Type: pdf
Download File

Articles

  • Bull, M. (2011). Health Supervision for Children With Down Syndrome. Pediatrics, 128, 2. pp 393-404.

Resources

  • NDSS Overview Brochure
  • A Promising Future Together: A guide for new and expectant parents
  • Video: An evening with Dr. William Cohen
Organizations:
  • National Downs Syndrome Society
  • NDSS Affliates Programs, listings by state

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