Development of novel high-performance liquid chromatography methodology and instrumentation for newborn screening
Description
Newborn screening programs are currently in place in all states. The disorders which are screened for include phenylketonuria (PKU) and congenital hypothyroidism in all states; other disorders such as sickle cell disease, maple syrup urine disease (MSUD), galactosemia, biotinidase deficiency and homocystinuria are included in some newborn screening programs. The major limitation of the present methodology for newborn screening is that most of the assays used are either qualitative or at best semi-quantitative, each of the assays is done in a different laboratory, set-up in parallel, and the interpretation is very often subjective and requires a high degree of expertise of the technologist interpreting the results. Almost all of the assays are performed manually We have developed an instrument that performs automated, fully quantitative determination of hemoglobins and another instrument that assays the amino acids methionine, leucine, isoleucine, tyrosine, and phenylalanine based on the resolving power of high performance liquid chromatography. Either system is capable of working alone or together with the other. We have made provisions for future screening tests to be added to these systems Both instruments have been evaluated with large numbers of samples of standard solutions, control newborns, and known patients. We have evaluated sample preparation, linearity of the values within the anticipated ranges, reliability of system components and data acquisition, ease of use of the instruments, and cost of acquisition and operation of the instruments. System components were chosen for their economy, durability, and compatibility with their specific job function being considered. We have also considered the special needs of newborn screening institutions, especially the requirements that the instruments be able to handle the large numbers of samples routinely analyzed at statewide screening facilities and that the systems must be able to operate unattended for extended periods of time We have tried to develop systems that will improve the quality of data obtained from newborn screening facilities while reducing cost and manpower requirements. The systems are an attempt to increase the quality of public health care while simultaneously trying to make that care less costly