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Newborn screening for congenital hypothyroidism
A newborn is screened for diseases
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A newborn is screened for diseases. USAF
Congenital hypothyroidism occurs when infants are unable to produce sufficient amounts of thyroid hormone, which is necessary for normal metabolism, growth and brain development.
Immediate diagnosis and treatment of congenital hypothyroidism in the neonatal period is critical to normal brain development and physical growth.
Indonesian Pediatricians Association (IDAI) chairman Aman Pulungan said the world had one congenital hypothyroidism case in every 3,000 to 4,000 births. Meanwhile in Indonesia, about 1,139 babies are diagnosed with the disease every year. In 2012, 906 cases of congenital hypothyroidism went undiagnosed in the country.
Looking at those figures, Aman, a pediatrician, has been continuously requesting that the government implement newborn screenings for congenital hypothyroidism as a national program.
'Actually, Indonesia already has ministerial decrees [on congenital hypothyroidism],' said Aman during a seminar in Jakarta recently, referring to Ministerial Decree No. 25/2014 on child health and Ministerial Decree No. 78/2014 on newborn screening for congenital hypothyroidism.
'But we need more action: a presidential decree, so any hospital not conducting the screening could be legally sanctioned,' he said, adding that politics will play a large role in establishing a national program.
Aman said the screening was important because clinical manifestations were often subtle or not present at birth.
This is likely due to the transplacental passage of maternal thyroid hormone. With further examination, said Aman, one with congenital hypothyroidism would show symptoms, such as constipation, macroglossia (unusually large tongue), hypotonia (decreased muscle tone), delayed development, short stature, lethargy, umbilical hernias, microcephaly (abnormal smallness of the head ' a congenital condition associated with incomplete brain development), mental retardation, anemia, prolonged jaundice and delayed speech.
Screenings, which cost Rp 45,000 (US$3.47) per test at public facilities, such as Cipto Mangunkusumo Hospital, should be done within 48 to 72 hours after birth, a time known as the golden period.
Without early therapy, an infant with congenital hypothyroidism may develop mental retardation, motor coordination disorders, hyphotonia and ataxia, or a lack of muscle coordination.
'Early detection allows us to fix the prognosis. The child with the disease may lose most of his clinical manifestations and even may improve his IQ to a normal level, if we give him early therapy,' said Aman, adding that the treatment involves daily administration of L-thyroxine.
Nancy Dian Anggraeni, a Health Ministry official, said that the screenings needed to be done nationwide by 2025 to 2035 to reach 70 percent of the nation's productive human resource.
'Without undergoing the congenital hypothyroidism screening, we're concerned that the potential of having children with mental retardation in the future will be high,' said Nancy.
The government has named Cipto Mangunkusumo Hospital in Jakarta and Hasan Sadikin Hospital in Bandung, West Java, as referral laboratories for congenital hypothyroidism.
Indonesia, Nancy said, had only been screening one percent of total childbirths, while China was at 54 percent, the Philippines was at 50 percent, Vietnam was at 24 percent and Sri Lanka was at 80 percent.
'In Indonesia, there are 300 babies with congenital hypothyroidism symptoms in every 1 million childbirths. By conducting the screening, we can decrease the numbers,' said Nancy.
Aman said Indonesia had been challenged by limited information as well as health facilities. He urged medical practitioners to educate parents on the disease.
'Once a child is diagnosed with congenital hypothyroidism, what we, as medical practitioners, must do is educate the parents ' they have to accept their child's condition and immediately give him therapy,' he added.
