Detection Of Congenital Hypothyroidism Research Articles

Screening and Detection of Congenital Hypothyroidism in Newborns.

Unrecognized congenital hypothyroidism (CH) is the most common cause of preventable cognitive delay in children. Infants with CH appear normal and are usually asymptomatic at birth. Early detection is critical for prevention of intellectual disability. Standardized newborn screening can have a positive impact on cognitive development in infants with CH.

25 Years of Newborn Screening in Uruguay

In the 1960s Guthrie conceived the idea of preventing congenital disease using dried blood spot samples on filter paper to detect them through biochemical tests and then be able to treat environmental factors in time to avoid the devastating effect of the diseases. Uruguay started in 1994 with the detection of congenital hypothyroidism in umbilical cord blood. In 2007 it was extended to Phenylketonuria and Congenital Adrenal Hyperplasia, starting with dried blood spot sample. In 2008, with the incorporation of Mass Spectrometry, a pilot program was started for the detection of aminoacidopathies, beta-oxidation defects and organic acidemias disorders. In the following years, the program expanded to more diseases, reaching a total of 25 disorders that could be detected, 5 of them are investigated on a mandatory basis and others in pilot program. During the 25-year of experience, 974277 umbilical cord blood samples were analyzed and since 2007: 532684 dried blood spot samples. 613 true positive congenital disorders were identified. The coverage has been greater than 98% and the repetition rate for insufficient samples less than 1.9%.

Congenital Hypothyroidism Diagnosed At 9 Years Old

Congenital hypothyroidism is a common endocrine disorder of newborn. It is an important cause of global developmental delay. The early diagnosis and treatment is crucial. In this paper we are describing case of congenital hypothyroidism in Saudi Arabia presenting as 9-year-old Bormann boy who was born at home with no neonatal screening and family ignorance. He was discovered incidentally with chest infection, despite of that screening for congenital hypothyroidism has been available in since 1989. This case shows the importance of conducting newborn screening for early detection of congenital hypothyroidism in newborn, which is still being neglected in some developing countries. It also shows the importance of early starting adequate replacement therapy to prevent irreversible sequels.

Newborn screening in the Asia Pacific region

The success of blood spot newborn screening in the USA led to early screening efforts in parts of the Asia Pacific Region in the mid-1960s. While there were early screening leaders in the region, many of the countries with depressed and developing economies are only now beginning organized screening efforts. Four periods of screening growth in the Asia Pacific region were identified. Beginning in the 1960s, blood spot screening began in New Zealand and Australia, followed by Japan and a cord blood screening programme for G6PD deficiency in Singapore. In the 1980s, established programmes added congenital hypothyroidism and new programmes developed in Taiwan, Hong Kong, China (Shanghai), India and Malaysia. Programmes developing in the 1990s built on the experience of others developing more rapidly in Korea, Thailand and the Philippines. In the 2000s, with limited funding support from the International Atomic Energy Agency, there has been screening programme development around detection of congenital hypothyroidism in Indonesia, Mongolia, Sri Lanka, Myanmar and Pakistan. Palau has recently contracted with the Philippine newborn screening programme. There is little information available on newborn screening activities in Nepal, Cambodia, Laos and the other Pacific Island nations, with no organized screening efforts apparent. Since approximately half of the births in the world occur in the Asia Pacific Region, it is important to continue the ongoing implementation and expansion efforts so that these children can attain the same health status as children in more developed parts of the world and their full potential can be realized.

Screening for congenital hypothyroidism in Northern Ireland.

ON 1 January 1980, a regional screening service was started in Northern Ireland for the detection of congenital hypothyroidism. Thyroxine and thyrotrophin concentrations were measured by radioimmunoassay from dried blood samples obtained from all neonates between the seventh and tenth day of life as an extension of the existing new-born screening programme. During the first two completed years, 55,816 neonates were screened of which 0.02% were recalled for further examination. Ten neonates were found to have congenital hypothyroidism. Most of these patients had minor clinical features consistent with hypothyroidism although only one patient had been diagnosed before recall. Treatment was commenced at a mean post natal age of 20 days. One infant, not diagnosed on screening, presented with clinical features of hypothyroidism at seven months of age. The overall incidence of congenital hypothyroidism in Northern Ireland is 1 in 5074 live births.