investigations

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Clearly with a lifelong diagnosis like Down's syndrome it is important to backup clinical impression with chromosomal analysis; this has certain implications for parents if this reveals a chromosomal translocation.

All neonates with Down's syndrome should be screened for congenital heart disease; this includes ECG, echocardiography and chest radiography.

Unless clinically indicated there is no need for further investigation. Tests for congenital hypothyroidism and phenyketonuria should be carried out as per local protocol. These may be repeated in later life by community health teams.

Last reviewed 04/2021