<abstract xmlns="http://www.w3.org/1999/xhtml">

<bold>Introduction.</bold> Newborn screening programs, commonly conducted, are prophylactic procedures with the aim to detect serious, often lethal diseases in their presymptomatic stage. It should be emphasized that the costs of the program are lower than medical care and treatment costs for sick citizens without diagnosis of these disorders. Every step, starting from receiving the parental consent, taking a dried blood spot sample by the nurses and finally testing was fully prepared and is under the supervision of the Institute of Mother and Child in Warsaw. In March 2022 screening for spinal muscular atrophy (SMA) among all newborns was introduced. This disorder leads to progressive deterioration of motor skills and sometimes even to death. The breakthrough of the SMA therapy was Zolgensma, called the most expensive drug in the world. Currently, this treatment is fully funded for some patients under the national drug program.
<bold>Aim.</bold> The aim is to present issues related to the newborn screening program and advanced SMA therapies.
<bold>Material and methods.</bold> Analysis of scientific studies in the PubMed database and national newborn screening programs.
<bold>Conclusions.</bold> Early implementation of the appropriate treatment gives the chance to improve the quality of life, especially if the earliest detection is provided by newborn screening program.
</abstract>

Introduction. Newborn screening programs, commonly conducted, are prophylactic procedures with the aim to detect serious, often lethal diseases in their presymptomatic stage. It should be emphasized that the costs of the program are lower than medical care and treatment costs for sick citizens without diagnosis of these disorders. Every step, starting from receiving the parental consent, taking a dried blood spot sample by the nurses and finally testing was fully prepared and is under the supervision of the Institute of Mother and Child in Warsaw. In March 2022 screening for spinal muscular atrophy (SMA) among all newborns was introduced. This disorder leads to progressive deterioration of motor skills and sometimes even to death. The breakthrough of the SMA therapy was Zolgensma, called the most expensive drug in the world. Currently, this treatment is fully funded for some patients under the national drug program.
Aim. The aim is to present issues related to the newborn screening program and advanced SMA therapies.
Material and methods. Analysis of scientific studies in the PubMed database and national newborn screening programs.
Conclusions. Early implementation of the appropriate treatment gives the chance to improve the quality of life, especially if the earliest detection is provided by newborn screening program.

Newborn screening program and advanced therapies as a chance for the youngest patients – based on spinal muscular atrophy (SMA)

Students Scientific Association at the Department of Paediatric Propedeutics of I Department of Pediatrics

Department of Paediatric Propedeutics of I Department of Pediatrics

Pielegniarstwo  XXI wieku / Nursing in the 21st Century

This work is licensed under the Creative Commons Attribution 4.0 International License.

Introduction. Newborn screening programs, commonly conducted, are prophylactic procedures with the aim to detect serious, often lethal diseases in their...

Newborn screening program and advanced therapies as a chance for the youngest patients – based on spinal muscular atrophy (SMA)

Publié en ligne: 15 déc. 2023

Pages: 273 - 281

Reçu: 17 juil. 2023

Accepté: 13 sept. 2023

DOI: https://doi.org/10.2478/pielxxiw-2023-0037

Mots clés
newborn screening, spinal muscular atrophy, premature death, new drug approval, advanced therapies

© 2023 Martyna Agnieszka Śliwińska et al., published by Sciendo

This work is licensed under the Creative Commons Attribution 4.0 International License.

Newborn screening program and advanced therapies as a chance for the youngest patients – based on spinal muscular atrophy (SMA)

Publié en ligne: 15 déc. 2023

Pages: 273 - 281

Reçu: 17 juil. 2023

Accepté: 13 sept. 2023

DOI: https://doi.org/10.2478/pielxxiw-2023-0037

Mots clésnewborn screening, spinal muscular atrophy, premature death, new drug approval, advanced therapies

© 2023 Martyna Agnieszka Śliwińska et al., published by Sciendo

This work is licensed under the Creative Commons Attribution 4.0 International License.

Mots clés
newborn screening, spinal muscular atrophy, premature death, new drug approval, advanced therapies