down_syndrome_flashcards
How is Down Syndrome typically diagnosed antenatally?
Via the combined test or triple test at 12 weeks’ gestation.
What confirmatory tests are performed for Down Syndrome after screening?
Amniocentesis or chorionic villus sampling.
How is Down Syndrome diagnosed postnatally?
Using an urgent blood PCR for trisomy 21.
Why is an echocardiogram performed in babies with Down Syndrome?
To investigate any cardiac abnormalities, which occur in 45% of babies with Down Syndrome.
What is the most common cardiac abnormality in Down Syndrome?
Atrioventricular septal defect.
Why are FBC and blood film tests important in Down Syndrome?
10% of Down Syndrome babies will have transient abnormal myelopoiesis, increasing the risk of acute lymphoblastic leukaemia.
What approach is recommended for managing Down Syndrome?
MDT (Multidisciplinary Team) approach.
What hearing tests are recommended for Down Syndrome babies?
Hearing screening test initially, then annual hearing testing including auditory thresholds, impedance testing (tympanometry), and otoscopy.
What associated problems should be monitored in Down Syndrome?
Hypothyroidism, duodenal atresia, Hirschsprung disease, coeliac disease, epilepsy, atlantoaxial instability.
What is the role of a speech and language therapist in Down Syndrome management?
If there is difficulty swallowing.
When should an ophthalmologist be involved in the care of a Down Syndrome baby?
At 3-6 months.
What support should be recommended to parents of a Down Syndrome child?
Support groups, such as the Down’s Syndrome Association, and genetic counselling.
What early intervention therapies should be referred to in childhood for Down Syndrome?
Physiotherapy and occupational therapy for fine motor skills.
What educational support is recommended for children with Down Syndrome?
Individualised educational plan and special schools.
