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Published on: February 9, 2024
Newborn screening for primary congenital hypothyroidism: past, present and future
Insights
Newborn screening for congenital hypothyroidism (CH) has improved, but overdiagnosis of mild cases remains. Future strategies involve omic sciences and expanding global access to this vital public health intervention.
Area of Science:
- Endocrinology
- Genetics
- Public Health
Background:
- Newborn screening for primary congenital hypothyroidism (CH) has evolved globally over decades.
- Screening has successfully reduced severe CH incidence but faces challenges with overdiagnosis of mild cases.
- Current screening benefits only a minority of newborns worldwide, particularly in developing nations.
Purpose of the Study:
- To review the evolution of newborn screening for primary CH.
- To explore future strategies for enhancing diagnostic accuracy.
- To advocate for expanded global access to newborn screening.
Main Methods:
- Review of historical data and current practices in newborn screening for CH.
- Exploration of omic sciences (genomics, proteomics, metabolomics) for biomarker discovery.
- Discussion of record-linkage studies for long-term outcome assessment.
Main Results:
- Global expansion of newborn screening has decreased severe CH.
- Overdiagnosis of mild CH cases, potentially leading to unnecessary treatment, is a persistent issue.
- Omic sciences offer potential for improved diagnostic accuracy and identification of treatable mild CH cases.
Conclusions:
- Advancements in omic sciences can refine CH diagnosis and identify cases requiring intervention.
- Record-linkage studies are crucial for understanding long-term outcomes in screened infants.
- Expanding newborn screening access globally, especially in developing countries, is essential for public health.
Abstract:
This manuscript reviews the evolution of newborn screening for primary congenital hypothyroidism (CH) and explores future strategies to enhance diagnostic accuracy. Over the past few decades, newborn screening has expanded globally, significantly reducing the incidence of severe forms of the disease. However, challenges persist, especially regarding the overdiagnosis of mild cases of primary CH, which may not require treatment. Omic sciences may help researchers to enhance the understanding of primary CH and to uncover new biomarkers to identify mild cases with altered proteomic and/or metabolic profiles associated with the need for treatment. Record-linkage studies can help deepen knowledge on the long-term outcomes of affected children identified through newborn screening. Nevertheless, despite 50 years of newborn screening for primary CH, a minority of newborns currently benefit from this critically important public health intervention. Efforts should be done to expand access to newborn screening globally, especially for those born in developing countries.
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