BACKGROUND: Clinical diagnosis of congenital hypothyroidism (CH) is difficult at birth without neonatal screening. In line with the priorities of the national health services in Malaysia towards preventive medicine, early diagnosis and treatment of CH is emphasised. We conducted a pilot study at Kuala Lumpur's Maternity Hospital between April 1995 and November 1995 to estimate the incidence of CH and also evaluated the problems associated with large-scale neonatal screening using a commercial TSH kit on cord bloodspots. PATIENTS: A total of 11,000 newborns were screened using cord blood spots taken at birth. RESULTS: Two hundred and fifty newborns (2.27%) hand cord TSH > 20 mlU/L and had to be recalled for re-evaluation. Of these, 4 had cord TSH of > 100 mlU/L; three were confirmed to have congenital hypothyroidism and one had transient hyperthyrotropinaemia. Our study estimated the incidence of CH to be one in 3,666 live births in Kuala Lumpur, Malaysia. Clinical features of hypothyroidism are subtle during the early weeks of life. However, prolonged neonatal jaundice (3/3), widely opened posterior fontanelle (3/3) and dry skin (3/3) were the common features in all our cases by 2-6 weeks of life. CONCLUSION: This study suffered a high dropout rate. Twenty-six percent of the patients were not traceable after discharge and 48% did not respond to our recall. We stress the importance of public education and awareness in contributing to the cost-effectiveness of the screening program.
BACKGROUND: Clinical diagnosis of congenital hypothyroidism (CH) is difficult at birth without neonatal screening. In line with the priorities of the national health services in Malaysia towards preventive medicine, early diagnosis and treatment of CH is emphasised. We conducted a pilot study at Kuala Lumpur's Maternity Hospital between April 1995 and November 1995 to estimate the incidence of CH and also evaluated the problems associated with large-scale neonatal screening using a commercial TSH kit on cord bloodspots. PATIENTS: A total of 11,000 newborns were screened using cord blood spots taken at birth. RESULTS: Two hundred and fifty newborns (2.27%) hand cord TSH > 20 mlU/L and had to be recalled for re-evaluation. Of these, 4 had cord TSH of > 100 mlU/L; three were confirmed to have congenital hypothyroidism and one had transient hyperthyrotropinaemia. Our study estimated the incidence of CH to be one in 3,666 live births in Kuala Lumpur, Malaysia. Clinical features of hypothyroidism are subtle during the early weeks of life. However, prolonged neonatal jaundice (3/3), widely opened posterior fontanelle (3/3) and dry skin (3/3) were the common features in all our cases by 2-6 weeks of life. CONCLUSION: This study suffered a high dropout rate. Twenty-six percent of the patients were not traceable after discharge and 48% did not respond to our recall. We stress the importance of public education and awareness in contributing to the cost-effectiveness of the screening program.