Watchdog publishes protocol for a health technology assessment of the addition of congenital adrenal hyperplasia to the \u2018heel prick\u2019 test<\/p>\n
The national health watchdog will assess whether congenital adrenal hyperplasia (CAH) should be added to the list of conditions checked under the National Newborn Bloodspot Screening Programme.<\/p>\n
CAH is a group of inherited autosomal recessive conditions affecting the adrenal glands located on top of each kidney, which are responsible for producing hormones including cortisol, aldosterone, and androgens.<\/p>\n
In the most severe form of classic CAH, the body cannot produce enough aldosterone and cortisol, the hormones that regulate electrolyte balance, maintain blood pressure and support the body\u2019s stress response. If not identified and treated urgently, a severe loss of salt and water balance can lead to a life-threatening adrenal crisis in early life.<\/p>\n
The condition ranges from mild to severe forms. As existing newborn screening methods are only designed to detect more severe forms of the condition, the assessment will focus on this form.<\/p>\n
The Health Information and Quality Authority (HIQA) has published a protocol for a health technology assessment (HTA) of the addition of CAH to the screening programme, commonly referred to as the \u2018heel prick\u2019 test.<\/p>\n
The signs of CAH differ by sex, with females typically identified earlier because there may be physical signs of the condition which are not apparent in males.<\/p>\n
\u201cAs part of our assessment, we will review international guidelines on newborn screening for CAH and evaluate its clinical effectiveness and safety alongside the budgetary and organisational considerations associated with its addition,\u201d said HIQA\u2019s Deputy CEO Dr M\u00e1ir\u00edn Ryan. \u201cThis will help to inform a recommendation by the National Screening Advisory Committee to the Minister for Health.\u201d<\/p>\n
The heel prick test is carried out on babies in the first 72 to 120 hours of life and currently screens for nine rare, but serious conditions. Approximately 120 babies with these conditions are identified per year through this test.<\/p>\n
It\u2019s been over three years since then Health Minister Stephen Donnelly accepted the NSAC recommendation to add Severe Combined Immunodeficiency (SCID) to the programme. Following that, In November 2023, a recommendation to add Spinal Muscular Atrophy (SMA) was also accepted.<\/p>\n
However, neither condition has yet been included in the programme. Last month Health Minister Jennifer Carroll MacNeill said that the conditions will be introduced later this year. Equipment needed to enable the roll-out has been purchased and installed and a laboratory verification process is ongoing, she told Fine Gael TD Colm Burke in a parliamentary response.<\/p>\n","protected":false},"excerpt":{"rendered":"Watchdog publishes protocol for a health technology assessment of the addition of congenital adrenal hyperplasia to the \u2018heel…\n","protected":false},"author":2,"featured_media":428924,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[78],"tags":[191160,18,135,137590,13842,19,17,191161,11474],"class_list":{"0":"post-428923","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-health","8":"tag-congenital-adrenal-hyperplasia","9":"tag-eire","10":"tag-health","11":"tag-heel-prick-test","12":"tag-hiqa","13":"tag-ie","14":"tag-ireland","15":"tag-national-newborn-bloodspot-screening-programme","16":"tag-newborn"},"share_on_mastodon":{"url":"https:\/\/pubeurope.com\/@ie\/116379361163549681","error":""},"_links":{"self":[{"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/posts\/428923","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/comments?post=428923"}],"version-history":[{"count":0,"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/posts\/428923\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/media\/428924"}],"wp:attachment":[{"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/media?parent=428923"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/categories?post=428923"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/tags?post=428923"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}