An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand.

Background: Inborn errors of metabolism (IEM) are a rare group of genetic diseases which can lead to several serious long-term complications in newborns. In order to address these issues as early as possible, a process called tandem mass spectrometry (MS/MS) can be used as it allows for rapid and simultaneous detection of the diseases. This analysis was performed to determine whether newborn screening by MS/MS is cost-effective in Thailand.

Neonatal screening program in Thailand.

The Neonatal Screening Program for congenital hypothyroidism (CHT) and phenylketonuria (PKU) commenced in 1996 with the objective of bringing better quality of life to people throughout the country, especially in the remote areas. This involved the implementation of routine services to the public health infrastructure all over the country. The plan of action has been designed so that by the year 2000 all public health service units throughout the country may provide screening services which can cover 1.

Stability of genomic DNA in dried blood spots stored on filter paper.

The stability of DNA in dried blood samples obtained from the neonatal screening program in Thailand was retrospectively studied in order to determine the conditions necessary for the long term storage of samples for DNA banking. Specimens from 1991 to 2001, which had been kept in the ambient conditions at the Department of Medical Science, Ministry of Public Health, Thailand, were randomly sampled and used for the study. Genomic DNA was extracted from the samples and DNA fragments of the PAX8 and beta-globin genes were amplified by PCR to determine DNA stability.

A simple method for extraction and purification of genomic DNA from dried blood spots on filter paper.

We have developed an efficient and simple method for extracting and purifying genomic DNA from dried blood stored on filter paper. The quality of the genomic DNA extracted is tested by PCR amplification of a 255-bp fragment of the PAX8 gene sequence and the PCR products are determined for further genetic studies by single strand conformation polymorphism (SSCP) analysis. Larger DNA sequences of the 674-bp of the PAX8 gene and the 1,039-bp of the human beta-globin gene, a housekeeping gene, have also been amplified from the extracted DNA, thus indicating the high quality of the genomic DNA extracted by the developed method for subsequent genetic studies of any gene of interest.