13th March 2024

Diagnostics

Down’s syndrome can be diagnosed before birth through antenatal screening followed by amniocentesis or chorionic villus sampling. It may also be diagnosed postnatally based on physical characteristics and confirmed by genetic testing in the form of chromosomal karyotype.

A paediatric cardiologist should review all newborn babies diagnosed with Down’s syndrome and have an echocardiogram to assess for congenital heart defects.