Performance of the Four-Plex Tandem Mass Spectrometry Lysosomal Storage Disease Newborn Screening Test: The Necessity of Adding a 2nd Tier Test for Pompe Disease
Abstract
:1. Introduction
2. Materials and Methods
2.1. Study Population
2.2. Screening Assay
2.3. Confirmatory Testing
3. Results
4. Discussion
5. Conclusions
Author Contributions
Funding
Acknowledgments
Conflicts of Interest
References
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LSD | Repeat NBS (on 2nd DBS) | False Positives | Patients | Early Onset | Later-Onset |
---|---|---|---|---|---|
Pompe | - | 14 | 6 | 1 | 5 |
Fabry | 21 | 0 | 9 | 1 | 8 |
MPS I | 34 | 0 | 0 | 0 | 0 |
Gaucher | 10 | 0 | 0 | 0 | 0 |
Disorders Suspected | GAA | GLA | ABG | ABG/GAA | ABG/GLA | Inhibition (%) # | % of mean DBS Activity | WBC Activity * | Diagnosis |
---|---|---|---|---|---|---|---|---|---|
Pompe | 0.44 | 11.0 | 22.1 | 50.4 | 2.00 | - | 6% | 0.11 | IOPD |
Pompe | 0.17 | 8.62 | 15.3 | 88.4 | 1.77 | - | 2% | 0.93 | LOPD |
Pompe | 0.24 | 8.16 | 8.16 | 33.7 | 1.00 | - | 3% | 0.74 | LOPD |
Pompe | 0.25 | 11.1 | 19.8 | 77.9 | 1.78 | - | 4% | 0.50 | LOPD |
Pompe | 0.25 | 8.29 | 10.2 | 40.0 | 1.23 | - | 4% | 0.30 | LOPD |
Pompe | 0.75 | 11.5 | 13.6 | 18.1 | 1.18 | 88.0 | 13% | 0.76 | LOPD |
Pompe | 0.57 | 3.63 | 4.72 | 8.28 | 1.30 | 87.0 | 8% | 5.56 | Not affected |
Pompe | 0.71 | 9.87 | 16.8 | 23.6 | 1.70 | - | 10% | 4.43 | Not affected |
Pompe | 0.71 | 11.7 | 14.5 | 20.3 | 1.23 | - | 10% | 1.16 | Not affected |
Pompe | 0.74 | 5.93 | 9.97 | 13.5 | 1.68 | 89.5 | 11% | 4.07 | Not affected |
Pompe | 0.77 | 6.60 | 11.7 | 15.2 | 1.78 | 87.4 | 11% | 3.58 | Not affected |
Pompe | 0.87 | 3.32 | 11.1 | 12.8 | 3.34 | 87.7 | 12% | 2.11 | Not affected |
Pompe | 0.89 | 5.83 | 9.10 | 10.2 | 1.56 | 89.0 | 13% | 3.54 | Not affected |
Pompe | 0.94 | 3.67 | 11.7 | 12.4 | 3.20 | 87.1 | 13% | 3.86 | Not affected |
Pompe | 1.05 | 4.69 | 8.49 | 8.06 | 1.81 | 87.8 | 15% | - | Not affected |
Pompe | 1.15 | 5.11 | 8.59 | 7.45 | 1.68 | 87.4 | 16% | 4.08 | Not affected |
Pompe | 1.26 | 3.47 | 10.5 | 8.34 | 3.02 | 87.5 | 18% | 3.98 | Not affected |
Pompe | 1.27 | 8.74 | 14.6 | 11.5 | 1.67 | 88.3 | 18% | - | Not affected |
Pompe | 1.30 | 7.78 | 12.0 | 9.26 | 1.55 | 87.2 | 19% | 4.56 | Not affected |
Pompe | 1.30 | 6.74 | 17.9 | 13.8 | 2.66 | 87.3 | 19% | 3.91 | Not affected |
Fabry | 3.57 | 0.16 | 7.26 | 2.03 | 44.1 | - | 2% | 0.42 | T1FD |
Fabry | 8.20 | 0.27 | 9.05 | 1.10 | 33.9 | - | 3% | 1.00 | (S) T1FD |
Fabry | 5.10 | 0.20 | 16.8 | 3.29 | 85.9 | - | 2% | 0.88 | T2FD |
Fabry | 2.42 | 0.55 | 6.89 | 2.85 | 12.6 | - | 7% | 4.62 | (S) T2FD |
Fabry | 6.32 | 0.56 | 16.4 | 2.60 | 29.4 | - | 7% | - | (S) T2FD |
Fabry | 6.85 | 1.02 | 9.09 | 1.33 | 8.89 | - | 13% | 4.53 | IVS4 + 919A |
Fabry | 5.64 | 1.02 | 14.5 | 2.57 | 15.0 | - | 13% | 3.01 | IVS4 + 919A |
Fabry | 10.5 | 1.01 | 9.22 | 0.88 | 9.14 | - | 13% | 6.50 | IVS4 + 919A |
Fabry | 8.86 | 1.01 | 13.3 | 1.50 | 15.0 | - | 13% | 6.24 | Benign |
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Chiang, S.-C.; Chen, P.-W.; Hwu, W.-L.; Lee, A.-J.; Chen, L.-C.; Lee, N.-C.; Chiou, L.-Y.; Chien, Y.-H. Performance of the Four-Plex Tandem Mass Spectrometry Lysosomal Storage Disease Newborn Screening Test: The Necessity of Adding a 2nd Tier Test for Pompe Disease. Int. J. Neonatal Screen. 2018, 4, 41. https://doi.org/10.3390/ijns4040041
Chiang S-C, Chen P-W, Hwu W-L, Lee A-J, Chen L-C, Lee N-C, Chiou L-Y, Chien Y-H. Performance of the Four-Plex Tandem Mass Spectrometry Lysosomal Storage Disease Newborn Screening Test: The Necessity of Adding a 2nd Tier Test for Pompe Disease. International Journal of Neonatal Screening. 2018; 4(4):41. https://doi.org/10.3390/ijns4040041
Chicago/Turabian StyleChiang, Shu-Chuan, Pin-Wen Chen, Wuh-Liang Hwu, An-Ju Lee, Li-Chu Chen, Ni-Chung Lee, Li-Yan Chiou, and Yin-Hsiu Chien. 2018. "Performance of the Four-Plex Tandem Mass Spectrometry Lysosomal Storage Disease Newborn Screening Test: The Necessity of Adding a 2nd Tier Test for Pompe Disease" International Journal of Neonatal Screening 4, no. 4: 41. https://doi.org/10.3390/ijns4040041