This site is intended for healthcare professionals

Go to /sign-in page

You can view 5 more pages before signing in

Go to /pro/cpd-dashboard page

This page is worth 0.05 CPD credits. CPD dashboard

Go to /account/subscription-details page

This page is worth 0.05 CPD credits. Upgrade to Pro

Investigations

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

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.


Create an account to add page annotations

Annotations allow you to add information to this page that would be handy to have on hand during a consultation. E.g. a website or number. This information will always show when you visit this page.

The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

Connect

Copyright 2024 Oxbridge Solutions Limited, a subsidiary of OmniaMed Communications Limited. All rights reserved. Any distribution or duplication of the information contained herein is strictly prohibited. Oxbridge Solutions receives funding from advertising but maintains editorial independence.