Down syndrome

Last updated: Tuesday, 30, November, 2010
Key InformationAppropriate Tests
Diagnosis

Maternal plasma human chorionic gonadotrophin, alpha fetoprotein, unconjugated oestriol ('triple test') to establish whether pregnancy is high risk.

See Down syndrome antenatal risk testing.

Cytogenetics - chorionic villus sample or amniotic fluid for antenatal diagnosis in high risk pregnancies.

Cytogenetics - blood, on infant, to establish diagnosis and assist with counselling; cytogenetics - blood on parents if translocation present in patient.

Associations

Transient neonatal myeloproliferative disorder

Acute myeloid leukaemia

Coeliac disease

Alzheimer's disease

 


See Acute leukaemia.

 

See Dementia.