The government-funded newborn screening service has been expanded from 11 items to 21 items, effective immediately, the Health Promotion Administration (HPA) said yesterday.
Using a blood test to screen for genetic metabolic disorders began in 1985 with just five items.
The number of items were increased to 11 in 2006, and the test now covers 21 items, Maternal and Child Health Division director Lin Yi-ching (林宜靜) said.
The symptoms of genetic metabolic disorders in newborns are usually hard to see and must be detected through screening, and that while the incidence of most of the diseases tested for are relatively low, if left untreated, some can result in permanent damage, she said.
The screening rate has reached 99 percent in recent years, and 3,657 out of the more than 180,000 babies tested last year were found to have inherited metabolic disorders, Lin said.
The most common disorders were glucose-6-phosphate dehydrogenase deficiency (G6PDD) or favism, which last year was found in 3,360 babies, followed by congenital hypothyroidism, which was found in 269, she said.
Chien Yin-hsiu (簡穎秀), an attending physician in National Taiwan University Hospital’s pediatrics and medical genetics departments, said the best time to test the babies is when they are 48 to 72 hours old, and the heel prick test needs only four drops of blood to screen for all 21 items.
Test results are available within three days, which aids in providing treatment if abnormalities are found, but if the test is delayed, this can lead to false negative results, thereby delaying the detection and treatment of inherited diseases, she said.
There have been cases in which the parents wanted to wait until their baby was covered by health insurance policies to have the test, to avoid a medical record of inherited disease, but parents should have their baby tested at the recommended time for more accurate results, Chien said.
Lin said the Financial Supervisory Commission in 2012 told insurance companies that if a newborn is insured from the day they are born, the newborn screening items should be excluded from insurance policies’ waiting periods, so parents do not need to postpone the test for this reason.
“Expanding the newborn screening from 11 items to 21 items will not mean an extra financial burden to parents,” she said.
The fee for the test remains the same, NT$350, with the rest of the costs of the testing covered by the government, Lin said.
However, for low-income households and those living in remote areas with a lack of medical resources, the fee is completely covered by the government, Lin said.
Any additional examination fees for infants who test positive for inherited metabolic disorders is funded by the government, she added.
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