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[Neonatal screening for congenital hypothyroidism. Experience at a Regional Center]
Insights
This study screened 107,670 infants for congenital hypothyroidism, finding a prevalence of 1 in 5,127. It also identified Thyroxine-Binding Globulin (TBG) deficiency in 1 in 8,972 infants.
Area of Science:
- Neonatal screening
- Endocrinology
- Public health
Context:
- Newborn screening programs are crucial for early detection of endocrine disorders.
- Congenital hypothyroidism and Thyroxine-Binding Globulin (TBG) deficiency require timely diagnosis to prevent developmental issues.
- Implementing robust screening protocols ensures accurate identification of affected infants.
Purpose:
- To evaluate the effectiveness of a newborn screening program for congenital hypothyroidism and TBG deficiency in the Emilia-Romagna region.
- To determine the incidence rates of these conditions within a large infant cohort.
- To refine screening methodologies, including T4 and TSH assay thresholds.
Summary:
- A large-scale screening of 107,670 infants in Emilia-Romagna, Italy, was conducted using capillary blood samples for T4 and TSH radioimmunoassay.
- The study established specific recall thresholds for T4 and TSH, resulting in a 0.74% recall rate.
- Congenital hypothyroidism was diagnosed in 21 infants (1:5,127), and TBG deficiency in 12 infants (1:8,972); no secondary hypothyroidism cases were detected.
Impact:
- The findings provide crucial epidemiological data on the prevalence of congenital hypothyroidism and TBG deficiency in the studied population.
- The established screening protocol and recall rates offer a benchmark for other regional newborn screening programs.
- Early identification facilitated by this screening enables timely intervention, improving long-term health outcomes for affected infants.
Abstract:
We examined 107,670 infants born in the Italian region Emilia-Romagna. Capillary blood samples for contemporary T4 and TSH radioimmunoassay were collected on the 3rd, 4th, 5th, 6th, 7th or between the 7th and the 15th day of life on filter paper. In our method the threshold value for recall for a second assay was calculated taking into account the mean - 2 SD of each session for T4, and fixing between 30 and 50 microU/ml the threshold value for TSH. The re-call percentage was 0.74%. 21 subjects confirmed to be affected by congenital hypothyroidism; this corresponds to a frequency in our region of 1 case every 5,127 infants. 12 subjects had a TBG deficiency, this corresponds to a frequency of 1 case every 8,972 infants. No cases of secondary hypothyroidism were found up to date.