{"id":6641,"date":"2023-10-12T16:32:36","date_gmt":"2023-10-12T14:32:36","guid":{"rendered":"https:\/\/alpha1-deutschland.org\/?p=6641"},"modified":"2025-05-12T16:33:12","modified_gmt":"2025-05-12T14:33:12","slug":"neugeborenenscreening","status":"publish","type":"post","link":"https:\/\/alpha1-deutschland.org\/en\/neugeborenenscreening","title":{"rendered":"Newborn screening: Between opportunities and challenges"},"content":{"rendered":"<div id=\"fws_6a8dbbb5eeefb\"  data-column-margin=\"default\" data-midnight=\"dark\"  class=\"wpb_row vc_row-fluid vc_row full-width-section\"  style=\"padding-top: 0px; padding-bottom: 50px; \"><div class=\"row-bg-wrap\" data-bg-animation=\"none\" data-bg-animation-delay=\"\" data-bg-overlay=\"false\"><div class=\"inner-wrap row-bg-layer\" ><div class=\"row-bg viewport-desktop\"  style=\"\"><\/div><\/div><\/div><div class=\"row_col_wrap_12 col span_12 dark left\">\n\t<div  class=\"vc_col-sm-12 wpb_column column_container vc_column_container col no-extra-padding inherit_tablet inherit_phone\"  data-padding-pos=\"all\" data-has-bg-color=\"false\" data-bg-color=\"\" data-bg-opacity=\"1\" data-animation=\"\" data-delay=\"0\" >\n\t\t<div class=\"vc_column-inner\" >\n\t\t\t<div class=\"wpb_wrapper\">\n\t\t\t\t<div class=\"vc_separator wpb_content_element vc_separator_align_center vc_sep_width_100 vc_sep_border_width_5 vc_sep_pos_align_center vc_sep_color_grey wpb_content_element vc_separator-has-text\" ><span class=\"vc_sep_holder vc_sep_holder_l\"><span class=\"vc_sep_line\"><\/span><\/span><h4>Author<\/h4><span class=\"vc_sep_holder vc_sep_holder_r\"><span class=\"vc_sep_line\"><\/span><\/span>\n<\/div>\n<div class=\"wpb_text_column wpb_content_element\" >\n\t<p style=\"font-weight: 400;\"><strong>Alpha1 Germany eV, as published in <a href=\"https:\/\/alpha1-deutschland.org\/en\/alpha1-journal\/\">Alpha1 Journal 2\/2022<\/a>.<\/strong><\/p>\n<\/div>\n\n\n\n<div class=\"divider-wrap\" data-alignment=\"default\"><div style=\"margin-top: 25px; height: 5px; margin-bottom: 25px;\" data-width=\"100%\" data-animate=\"\" data-animation-delay=\"\" data-color=\"default\" class=\"divider-border\"><\/div><\/div>\n<div class=\"wpb_text_column wpb_content_element\" >\n\t<h2><span style=\"color: #004267;\">Newborn screening also for alpha-1 antitrypsin deficiency?<\/span><\/h2>\n<p>Newborn screening is a routine examination performed on infants immediately after birth to detect metabolic and hormonal disorders at an early stage. The test checks for selected diseases, chosen according to criteria such as the Wilson &amp; Junger rules. We explained these selection criteria in Journal 1\/2022 (pages 31-33). In that journal, we also informed you about the ACHSE (Alliance for Chronic Rare Diseases) project and discussed the pros and cons of screening for our specific condition.<\/p>\n<p>Now, a year and a half later, we haven&#039;t really made much progress; the AXIS project is still ongoing because there are so many aspects to consider regarding newborn screening: providing information before voluntary screening, support after diagnosis, feasibility of the analyses (within the given timeframe), costs, ethical questions, treatability of the disease (what exactly does that mean?), dealing with potential misdiagnoses, whether there are perhaps later, more appropriate times for testing, and much more. We have discussed and collaborated with experts and other patient organizations, conducted literature reviews, and keep coming back to the same questions, because screening in infancy should be carefully considered.<\/p>\n<p>A study called &quot;Baby Detect&quot; is currently underway in Belgium, going far beyond conventional newborn screening. With an additional 4-8 drops of blood, it screens for more than 120 rare, but treatable, genetic diseases. Screening for alpha-1 antitrypsin deficiency is also included.<\/p>\n<p>The following measures are listed as possible in the case of an early diagnosis (treatable):<\/p>\n<ul>\n<li>Breastfeeding the infant<\/li>\n<li>Confirming the diagnosis by determining the serum level in the blood<\/li>\n<li>Multidisciplinary care \u2022 Liver transplantation as a definitive treatment<\/li>\n<li>Substitution therapy up to and including lung transplantation<\/li>\n<li>Treatment with dapsone or doxycycline therapy for panniculitis<\/li>\n<li>Genetic counseling for family planning<\/li>\n<\/ul>\n<p>Sounds good, but that only shows one side of the coin! Something else to consider:<\/p>\n<ul>\n<li>A child&#039;s right to &quot;not know&quot;\u201e<\/li>\n<li>Social aspects such as the possible exclusion of disabled\/ill people and their parents who have not been examined<\/li>\n<li>Are all variants found, or are only ZZ being searched for?<\/li>\n<li>Insurance is still a problem; once you&#039;ve had a genetic test, you need good reasons to even be accepted into some insurance policies. Ignorance of the facts is a protection in this case.<\/li>\n<li>The danger of overprotectiveness by parents, even though they cannot know whether the disease will actually break out.<\/li>\n<\/ul>\n<p>You&#039;re missing the word &quot;prevention&quot; in this discussion? Yes, prevention would be possible through early diagnosis, but isn&#039;t prevention part of healthy development anyway, for example:<\/p>\n<ul>\n<li>Smoking prevention: no child should ever smoke; a diagnosis of alpha-1 deficiency does not change that.<\/li>\n<li>Exercise and healthy eating \u2013 this applies to every child!<\/li>\n<li>At the first signs of illness, you should see a doctor: We repeat, this applies to every child!<\/li>\n<\/ul>\n<p>It is difficult to form an opinion; as someone who is ill, one tends to say: &quot;Knowledge helps,&quot; but this does not apply equally to all people.<\/p>\n<p>We will continue to pursue this issue; many different models for the future are conceivable. Newborn screening is just one possibility; research is progressing, and the examination of our genome (the entirety of a cell&#039;s genetic information) will change many things. As always, it is important to get involved early and exert influence wherever we can.<\/p>\n<\/div>\n\n\n\n\n\t\t\t<\/div> \n\t\t<\/div>\n\t<\/div> \n<\/div><\/div>\n\t\t<div id=\"fws_6a8dbbb5f0699\"  data-column-margin=\"default\" data-midnight=\"dark\"  class=\"wpb_row vc_row-fluid vc_row\"  style=\"padding-top: 0px; padding-bottom: 0px; \"><div class=\"row-bg-wrap\" data-bg-animation=\"none\" data-bg-animation-delay=\"\" data-bg-overlay=\"false\"><div class=\"inner-wrap row-bg-layer\" ><div class=\"row-bg viewport-desktop\"  style=\"\"><\/div><\/div><\/div><div class=\"row_col_wrap_12 col span_12 dark left\">\n\t<div  class=\"vc_col-sm-12 wpb_column column_container vc_column_container col no-extra-padding inherit_tablet inherit_phone\"  data-padding-pos=\"all\" data-has-bg-color=\"false\" data-bg-color=\"\" data-bg-opacity=\"1\" data-animation=\"\" data-delay=\"0\" >\n\t\t<div class=\"vc_column-inner\" >\n\t\t\t<div class=\"wpb_wrapper\">\n\t\t\t\t<div class=\"divider-wrap\" data-alignment=\"center\"><div style=\"margin-top: 25px; width: 20%; height: 2px; margin-bottom: 25px;\" data-width=\"20%\" data-animate=\"\" data-animation-delay=\"\" data-color=\"accent-color\" class=\"divider-small-border\"><\/div><\/div><p style=\"font-size: 30px;color: #004267;line-height: 2;text-align: center\" class=\"vc_custom_heading vc_do_custom_heading\" >Smoking prevention: no child should ever smoke; a diagnosis of alpha-1 deficiency does not change that. <\/p><div class=\"divider-wrap\" data-alignment=\"center\"><div style=\"margin-top: 25px; width: 20%; height: 2px; margin-bottom: 25px;\" data-width=\"20%\" data-animate=\"\" data-animation-delay=\"\" data-color=\"accent-color\" class=\"divider-small-border\"><\/div><\/div>\n\t\t\t<\/div> \n\t\t<\/div>\n\t<\/div> \n<\/div><\/div>\n\t\t<div id=\"fws_6a8dbbb5f19e1\"  data-column-margin=\"default\" data-midnight=\"dark\"  class=\"wpb_row vc_row-fluid vc_row\"  style=\"padding-top: 0px; padding-bottom: 0px; \"><div class=\"row-bg-wrap\" data-bg-animation=\"none\" data-bg-animation-delay=\"\" data-bg-overlay=\"false\"><div class=\"inner-wrap row-bg-layer\" ><div class=\"row-bg viewport-desktop\"  style=\"\"><\/div><\/div><\/div><div class=\"row_col_wrap_12 col span_12 dark left\">\n\t<div  class=\"vc_col-sm-12 wpb_column column_container vc_column_container col no-extra-padding inherit_tablet inherit_phone\"  data-padding-pos=\"all\" data-has-bg-color=\"false\" data-bg-color=\"\" data-bg-opacity=\"1\" data-animation=\"\" data-delay=\"0\" >\n\t\t<div class=\"vc_column-inner\" >\n\t\t\t<div class=\"wpb_wrapper\">\n\t\t\t\t\n<div class=\"wpb_text_column wpb_content_element\" >\n\t<p>After all the meetings, the wealth of information, and the many experiences we&#039;ve heard from others, there is at least one advantage to our illness:<\/p>\n<p>If we simply considered alpha-1 antigen in children with elevated liver enzymes or who are failing to thrive, and also in adults with elevated liver enzymes and\/or impaired lung function, we would already be making significant progress. We have the opportunity to diagnose this condition before it becomes fatal (as it does with other diseases). Let&#039;s seize this opportunity and finally ensure more testing at the first sign of symptoms.<\/p>\n<\/div>\n\n\n\n\n\t\t\t<\/div> \n\t\t<\/div>\n\t<\/div> \n<\/div><\/div>","protected":false},"excerpt":{"rendered":"Author: Alpha1 Germany e.V., as published in the Alpha1 Journal 2\/2022. Newborn screening also for alpha-1 antitrypsin deficiency? Newborn screening is a routine examination performed on infants immediately after birth to detect metabolic and...","protected":false},"author":1,"featured_media":6643,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1,45,44],"tags":[],"class_list":["post-6641","post","type-post","status-publish","format-standard","has-post-thumbnail","category-allgemein","category-jugendliche","category-kinder"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.3 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Neugeborenenscreening auf Alpha-1: Chance oder Risiko?<\/title>\n<meta name=\"description\" content=\"Sollte Alpha-1 ins Neugeborenenscreening aufgenommen werden? 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