LNS - Dépistage néonatal de la mucoviscidose (EN)

Описание к видео LNS - Dépistage néonatal de la mucoviscidose (EN)

Cystic fibrosis screening available to all newborns
The neonatal screening and metabolic diseases unit of the department of medical biology aims to identify babies born with rare diseases, often of genetic origin. The aim is to diagnose these diseases as quickly as possible and apply effective treatment during the first days of life in order to prevent severe deficiencies or even death. So far, the unit has been detecting the following four diseases by using dried whole blood spots: phenylketonuria, congenital hypothy-roidism, congenital adrenal hyperplasia, and medium-chain acyl-coenzime A dehydrogenase (MCAD) deficiency. On 2 January 2018, it launched a new pilot project under the auspices of the Direction de la Santé: the cystic fibrosis screening for all babies born in Luxembourg.

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