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Review
. 2019 Jul;7(13):281.
doi: 10.21037/atm.2019.05.47.

Newborn screening: Taiwanese experience

Yin-Hsiu Chien  1   2 , Wuh-Liang Hwu  1   2 , Ni-Chung Lee  1   2
Affiliations
Review

Newborn screening: Taiwanese experience

Yin-Hsiu Chien et al. Ann Transl Med. 2019 Jul.

Abstract

Newborn screening (NBS) aims to diagnose patients with Pompe disease earlier so that timely treatment can be applied. We describe the evolution of the screening methods in Taiwan with a population in which a pseudodeficiency variant is prevalent. We review and update the outcome of NBS-identified patients and discuss the limitations of the current therapy. We also address the challenges associated with caring for the babies with diagnosed acid alpha-glucosidase deficiency but yet without significant clinical manifestations. Further modifications of the current treatment and better predictive biomarkers should be explored.

Keywords: Pompe disease; acid α-glucosidase; enzyme replacement therapy (ERT); newborn screening (NBS); second-tier.

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Conflict of interest statement

Conflicts of Interest: The authors have no conflicts of interest to declare.

Figures

Figure 1
Figure 1
The diagnosis and treatment algorithm for babies with positive Pompe newborn screening. *, need to confirm the CRIM status and ensure if immunomodulation therapy to prevent anti-GAA antibodies production is needed. ERT, enzyme replacement therapy.
Figure 2
Figure 2
The overall survival (A) and the invasive ventilator-free survival (B) among 3 cohorts of IOPD patients: no treatment, with ERT only after the clinical symptoms, and ERT immediately after NBS identified. The cohorts were used previously (16), with additionally new IOPD patients in the NBS group. IOPD, infantile-onset Pompe disease; NBS, newborn screening; ERT, enzyme replacement therapy.
See this image and copyright information in PMC

References

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