Down syndrome

Last updated: Tuesday, 30, November, 2010

Key Information	Appropriate 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.

Key Information

Appropriate 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.