Skip to content The Leeds Teaching Hospitals NHS Trust Website
    

Leeds Fetal Medicine Unit Website

 

Down's Syndrome

Definition

 Syndrome caused by an individual having an additional chromosome 21
Incidence 1:700 births
Diagnosis

Can only occur after karyotyping fetus

Ultrasound features may be suggestive

  • Increased nuchal translucency (11-14 weeks)
  • Increased nuchal pad thickening (18 weeks onwards)
  • Short femurs (thigh bones) and humerus (arm bones)
  • AVSD
  • Echogenic bowel
  • Renal pelvietasis
  • Gastrointestinal abnormalities (22 weeks onwards)
  • Absent nasal bone
Gestation at diagnosis 11 weeks onwards
Known chromosomal or genetic association Yes, three number 21 chromosomes (trisomy 21)
Further investigations Karyotype fetus to confirm
Differential Diaganosis  
Prognosis Varied, all children usually have learning delay, may also suffer from physical problems (e.g. heart defects)
Recurrance risk 1% above age related risk (see antenatal screening)
Research Studies  

Further information for clinicians please click here

For patient information please follow the link below to the Down's Syndrome association website

Link to the Down's Syndrome Association

 

 

 

 

 

 

 

 

 

If you have techinical problems with this website please contact webmaster@leedsth.nhs.uk.

 

Home | Patients | Careers | News | Corporate | Resources | Freedom of Information | Website Help