Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide
Author Information
Author(s): Kuypers Allysa M., Bouva Marelle J., Loeber J. Gerard, Boelen Anita, Dekkers Eugenie, Petritis Konstantinos, Pickens C. Austin, van Spronsen Francjan J., Heiner-Fokkema M. Rebecca, Brower Amy
Primary Institution: University Medical Center Groningen, University of Groningen
Hypothesis
What are the differences in neonatal screening protocols for tyrosinemia type 1 across various countries?
Conclusion
Neonatal screening programs for tyrosinemia type 1 vary significantly worldwide, indicating a need for standardization and optimization.
Supporting Evidence
- TT1 incidence ranged from 1/13,636 to 1/750,000 across different programs.
- Most NBS samples are taken between 36 and 72 hours after birth.
- The pooled median cut-off for SUAC was 1.50 µmol/L.
- Overall positive predictive values were 27.3% for SUAC and 90.1% for Tyr + SUAC.
- One false-negative result was reported for TT1 NBS using SUAC.
Takeaway
This study looked at how different countries test newborns for a rare disease called tyrosinemia type 1, finding that there are many different ways to do it, and some are better than others.
Methodology
An online survey was distributed to representatives of neonatal screening programs worldwide to gather data on their protocols and performance.
Potential Biases
Non-response bias may affect the validity of the study as results might not be generalizable to all screening programs.
Limitations
The study may not include all countries screening for tyrosinemia type 1, particularly in Asia and South America, due to non-response bias.
Participant Demographics
Participants included representatives from various countries with neonatal screening programs for tyrosinemia type 1.
Digital Object Identifier (DOI)
Want to read the original?
Access the complete publication on the publisher's website