Refine the algorithm for congenital hypothyroidism newborn screening in Taiwan
Date Issued
2014
Date
2014
Author(s)
Lin, Yi-Tzu
Abstract
Background: Children with congenital hypothyroidism will have severe growth retardation, impaired brain development and mental retardation due to lack of thyroxine. These symptoms are preventable via early detection by newborn screening and supplement of Levothyroxine. However, currently the screening false positive rate is about 2-3%, and therefore the diagnosis most patients require re-screening before referral to the diagnosis system to confirm hypothyroidism and begin treatments.
Method: To explore the possibility to decrease the false-positive rate of screening. Dry blood spot thyroxine (T4) level was used as a second tier marker for newborns with a positive first screening result of congenital hypothyroidism (thyroid stimulating hormone (TSH) levels between 9 and 40 μU/mL).
Result: The positive rate of first screening was 2.35% during the study period. There were 900 cases whose TSH levels were 9 to 40 μU/mL and needed a retest. Their TSH and T4 levels have negative correlation (correlation coefficient: -0.21). If we add thyroxine as a second tier screening marker and use 9.79 μg/dL as thyroxine cut-off, the sensitivity of screening is 72.9%, specificity 73.7%, false-negative rate 26.3%, and false positive rate 27.1%. After adding thyroxine test, 627 false-positive cases can be classify as negative result with no need of retest, but 13 positive cases will be missed due to a normal thyroxine level.
Conclusion: Althought using thyroxine as a second tier marker can reduce the recall rate of newborn screening, but the false-negative rate also increase. Therefore, further studies will be required to improve the screening of congenital hypothyroidism.
Subjects
新生兒篩檢
先天性甲狀腺低能症
甲狀腺素
甲促素
Type
thesis
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