Trisomies Detected by NIPT

Trisomy 18 (Edwards’ Syndrome)

  • Edwards’ Syndrome is a genetic condition caused by the presence of three copies of chromosome 18 (instead of the usual two copies)
  • For every 7,000 births there will be one baby born with Trisomy 18
  • Edwards’ Syndrome is a life-limiting condition.
  • 5-8% of babies affected with Edwards’ Syndrome survive beyond 1 year without extraordinary medical intervention.  With medical intervention the survival rates have increased.  The largest Trisomy 18/13 survival study in the USA reported a Trisomy 18 survival rate of 13.5% at 1 year of age and 12.3% at 5 years of age.
  • Children with Edwards’ Syndrome have birth defects including heart defects, musculoskeletal defects, hearing loss and cleft palate/lip.  Common illnesses associated with Edwards’ Syndrome  include feeding difficulties, poor growth, seizures, developmental disorders, chronic constipation, frequent pneumonia and curvature of the spine.
  • Supportive treatment is available for the condition

 

Further information can be found from the Support Organisation for Trisomy 13/18 (SOFT) here: www.soft.org.uk