Advances in newborn bloodspot screening

Abstract

This paper looks at the utilisation of tandem mass spectrometry (MS/MS) in newborn bloodspot screening. MS/MS has the ability to analyse a single blood sample for a relatively large number of neonatal disorders, including inborn errors of metabolism. It has therefore the capability to transform the face of newborn screening. In the UK medium chain acyl-coenzyme A dehydrogenase deficiency (MCADD) has been highlighted as a suitable candidate for screening using MS/MS but debates are still taking place about the disease process and the psychosocial implications of screening. Midwives are central to newborn screening and therefore any expansion of bloodspot screening would have implications for their practice in terms of information giving, parental consent and education. To ensure the continued success of newborn bloodspot screening it is important that midwives practice in accordance with professional standards, are aware of current developments and engage in debates prior to new service delivery implementation. The Department of Health and the National Screening Committee have undertaken a two year pilot study (2004–2006) looking at newborn screening for MCADD and their report, due out 2006/2007, has the potential to contribute constructively to current debates.