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Single newborn screen or routine second screening for primary congenital hypothyroidism
Stuart K Shapira1, Cynthia F Hinton1, Patrice K Held2
1National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA, USA.
Molecular Genetics and Metabolism
|August 22, 2015
Summary
Newborn screening for congenital hypothyroidism (CH) shows higher detection rates in one-screen states. Two-screen states detect 11.5% of CH cases on the second screen, highlighting the need for careful program evaluation.
Area of Science:
- Biochemistry
- Pediatrics
- Public Health
Background:
- Newborn screening protocols vary across U.S. states, with some employing one screen and others two.
- Congenital hypothyroidism (CH) is a treatable condition detectable through newborn screening.
Purpose of the Study:
- To compare the effectiveness of one- vs. two-stage newborn screening for primary congenital hypothyroidism (CH).
- To analyze screening consequences based on laboratory practices and case characteristics.
Main Methods:
- Retrospective analysis of individual-level medical and biochemical data for 2251 CH cases in selected one- and two-screen states.
- Collection and analysis of aggregate data on screened newborns' characteristics.
Main Results:
- One-screen states demonstrated a higher detection rate for primary CH.
- In two-screen states, 11.5% of CH cases were identified during the second screening round.
- Race/ethnicity emerged as a significant factor influencing CH detection timing between the first and second screens.
Conclusions:
- A single newborn screen may miss cases of CH, particularly in certain racial/ethnic groups.
- Transitioning two-screen states to a single screen without algorithm modification risks delayed CH diagnosis.
- Two-screen states could potentially adopt single-screen protocols for CH without compromising performance through appropriate method and algorithm adjustments.
