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Journal of Clinical Genetics and Genomics

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The X-Factor: Adrenoleukodys trophy Newborn Screening in the Netherlands

Author(s): Beatrix Potter*

A terrible metabolic illness that affects the brain, spinal cord, and adrenal glands is called X-linked Adrenoleukodystrophy (ALD). The likelihood of acquiring adrenal insufficiency or progressive cerebral white matter lesions (cerebral ALD) in males with ALD is significant. ALD of the brain can be deadly if left untreated. Adrenal insufficiency and cerebral ALD are not risk factors for ALD in women. Male newborn screening for ALD offers immediate therapeutic intervention and prospective monitoring, preventing irreparable harm and saving lives. The recommendation of the Dutch Health Council to include a newborn screening panel for ALD that is only for males was implemented by the Dutch Ministry of Health. The Dutch Health Council's advice to just test boys without collecting any uninvited information presented a problem. We received an invitation to establish the SCAN trial, a prospective pilot study (SCreening for ALD in the Netherlands). The SCAN study's goals include developing a boys-only screening algorithm that identifies males with ALD and without unexpected findings, incorporating it into the framework of the Dutch newborn screening programme without impairing the current newborn screening, analysing the practical and moral ramifications of screening only boys for ALD, and establishing a thorough follow-up that is accommodating to both patients and parents. A screening algorithm that may be incorporated into the Dutch newborn screening programme was successfully created and validated by our team. The "X-counter" is the "heart" of this algorithm. Without considering the presence of a Y chromosome, the X-counter counts the number of X chromosomes. In our 4-tier screening algorithm, the X-counter is integrated as the second stage. In addition, we made sure that our screening system didn't provide any unexpected findings. Finally, we created a multidisciplinary, centralised follow-up protocol that is accommodating to patients and parents. For nations that face comparable moral dilemmas regarding ALD and other Xlinked disorders, our boys-only ALD screening algorithm provides an answer. This alternate approach for screening boys-only could hasten the inclusion of ALD in newborn screening programmes across the globe.


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Citations : 24

Journal of Clinical Genetics and Genomics received 24 citations as per Google Scholar report

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