Ireland Assessing Addition of Congenital Adrenal Hyperplasia to Newborn Screening

The Health Information and Quality Authority (HIQA) has announced the commencement of a health technology assessment (HTA) to evaluate adding congenital adrenal hyperplasia (CAH) to Ireland’s National Newborn Bloodspot Screening Programme (NNBSP). This move follows a request from the National Screening Advisory Committee (NSAC) to determine the evidence base for including the condition in the standard “heel prick” test provided to newborns.

Understanding Congenital Adrenal Hyperplasia (CAH)

CAH refers to a group of rare, inherited conditions that affect the adrenal glands, which are located on top of each kidney. These glands are responsible for producing essential hormones that regulate various bodily functions.

In the most severe forms of CAH, the body cannot produce sufficient hormones to maintain normal blood pressure or support a healthy stress response. If the condition isn’t identified and treated urgently, it can lead to a life-threatening adrenal crisis in early infancy. It’s important to note that signs of CAH vary by sex and females are typically identified earlier than males.

The Role of HIQA and the NSAC

The process for updating national screening programs in Ireland involves several layers of expert oversight:

• National Screening Advisory Committee (NSAC): Established by the Minister for Health, this independent committee plays a strategic role in developing and considering population-based screening programs.
• HIQA HTA Directorate: At the request of the Department of Health, HIQA conducts evidence synthesis and provides evidence-based advice to the NSAC on behalf of the Minister for Health.

The current published protocol outlines the evidence synthesis approach the evaluation team will use to complete this assessment.

Key Takeaways: Newborn Screening for CAH

• Objective: To assess the evidence for adding CAH to the National Newborn Bloodspot Screening Programme.
• Urgency: Early identification is critical to prevent life-threatening adrenal crises.
• Process: HIQA is conducting the assessment to support a recommendation from the NSAC to the Minister for Health.

Frequently Asked Questions

What is the “heel prick” test?

The “heel prick” test is the common term for the National Newborn Bloodspot Screening Programme, where a small sample of blood is taken from a newborn’s heel to screen for rare but serious health conditions.

Why is screening for CAH important?

Because severe CAH can lead to a life-threatening adrenal crisis if not treated urgently, early screening allows for immediate medical intervention before a crisis occurs.

When will the assessment be completed?

HIQA has published the protocol for the assessment as of April 9, 2026, to begin the evidence synthesis process.

As HIQA continues its evaluation, the findings will provide the necessary evidence for the National Screening Advisory Committee to finalize its recommendations for the Minister for Health regarding the expansion of the national screening program.