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Diagnostic comparison between cord blood and filter paper for the screening of congenital hypothyroidism
Seham Alameer1, Eman Althobaiti2, Saud Alshaikh2
1Department of Pediatric, Ministry of the National Guard-Health Affairs, King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
Insights
Heel-prick TSH screening for congenital hypothyroidism (CH) offers 100% sensitivity, making it superior to cord-blood TSH screening. However, cord blood is a cost-effective alternative when early discharge or difficult recalls are factors.
Area of Science:
- Neonatal screening
- Endocrinology
- Public health
Background:
- Congenital hypothyroidism (CH) screening is vital to prevent intellectual disability.
- Thyroid-stimulating hormone (TSH) levels are key diagnostic markers.
- Comparing cord-blood vs. heel-prick TSH for CH detection is crucial.
Purpose of the Study:
- To compare the sensitivity and specificity of cord-blood TSH versus heel-prick TSH for congenital hypothyroidism (CH) detection.
- To evaluate the diagnostic performance of two common newborn screening methods.
Main Methods:
- A cohort of 21,012 newborns were screened for CH between September 2013 and March 2019.
- Both cord-blood and heel-prick TSH samples were collected from each infant.
- Established cutoff values were used: >21 μU/ml for heel prick and >30 mIU/L for cord blood.
Main Results:
- Twelve newborns were confirmed with primary CH.
- Heel-prick TSH showed 100% sensitivity and 99.3% specificity with a 0.60% recall rate.
- Cord-blood TSH demonstrated 75% sensitivity and 99.9% specificity with a 0.004% recall rate.
Conclusions:
- Heel-prick TSH screening is the superior method for detecting congenital hypothyroidism due to its higher sensitivity.
- Cord-blood TSH screening is a practical, cost-effective alternative, especially when early discharge or recall challenges exist.
- Cord blood screening is not recommended for premature infants.
Background:
Cord-blood and heel-prick TSH levels are essential in diagnosing and preventing the serious complications of congenital hypothyroidism, which mainly include intellectual disability. The study aimed to compare between cord-blood and heel-prick TSH sensitivity and specificity in detecting congenital hypothyroidism (CH) among newborn screened babies.
Method:
The study included 21,012 newborn screened babies for congenital hypothyroidism starting from September 2013 until March 2019. Both cord-blood and heel-prick TSH were collected from each newborn. Heel prick and cord-blood TSH cutoff values of >21 μU/ml and >30 mIU/L respectively were considered positive.
Results:
Out of the total screened newborns, 12 were confirmed for having primary congenital hypothyroidism. Nine cases were positive for cord-blood TSH (Sensitivity 75%, specificity 99.9%, and a recall rate of 0.004%), while 139 cases were positive for heel-prick blood TSH (Sensitivity of 100%, specificity of 99.3%, and a recall rate of 0.60%).
Conclusion:
For the screening of CH, heel prick is considered a superior method, but cord blood remains a practical option due to its cost-effectiveness, immediate action, and lower recall rate. Therefore, whenever recall is difficult and/or early discharge is the practice, cord blood is an alternative method to heel prick but not with cases of prematurity.
