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[Newborn Screening Program in the Community of Madrid: evaluation of positive cases.]
Ana Cambra Conejero1, Laura Martínez Figueras1, Alicia Ortiz Temprado1
1Laboratorio de Cribado Neonatal de la Comunidad de Madrid. Servicio de Bioquímica Clínica. Hospital General Universitario Gregorio Marañón. Madrid. España.
Insights
Newborn screening using tandem mass spectrometry (MS/MS) detected 230 cases of inborn errors of metabolism (IEM) in Madrid over 9 years. This public health program confirms its utility in early detection of metabolic disorders.
Area of Science:
- Biochemistry
- Genetics
- Public Health
Background:
- Tandem mass spectrometry (MS/MS) enhances newborn screening by detecting more metabolic disorders from dried blood spots.
- The Community of Madrid implemented an expanded MS/MS screening program in March 2011, covering aminoacidopathies, fatty acid oxidation disorders, and organic acidemias.
Purpose of the Study:
- To describe the experience and evaluate screening positive cases over a 9-year period (2011-2019).
- To assess the effectiveness of the expanded newborn screening program in the Community of Madrid.
Main Methods:
- Screened 592,822 neonates using MS/MS.
- Quantified amino acids, acylcarnitines, and succinylacetone.
- Calculated means, medians, percentiles, and standard deviations for analytes and ratios.
Main Results:
- Referred 901 patients (0.15%) for clinical evaluation.
- Diagnosed 230 patients with 30 different inborn errors of metabolism (IEM) (prevalence 1:2577).
- Achieved a global positive predictive value of 25.6%, detecting 93% of cases presymptomatically. Phenylketonuria/hyperphenylalaninemia and medium chain acyl-CoA dehydrogenase deficiency were most prevalent.
Conclusions:
- The MS/MS newborn screening program successfully detected a significant number of IEM cases.
- The program demonstrated an acceptable global positive predictive value, confirming its value as a public health initiative.
- Early detection through newborn screening is crucial for managing inborn errors of metabolism.
Objective:
Tandem mass spectrometry (MS/MS) is being used for newborn screening since this laboratory testing technology increases the number of metabolic disorders that can be detected from dried blood-spot specimens. In the Community of Madrid, it was implemented in March 2011 and it includes 13 aminoacidopathies, fatty acid oxidation disorders and organic acidemias. The aim of this study was to describe our experience and evaluate the screening positive cases in a period of 9 years (2011-2019).
Methods:
During the period of the study, a total of 592.822 neonates were screened with this expanded program by MS/MS in the Community of Madrid. Amino acids, acylcarnitines, and succinylacetone were quantified in all samples that met the quality criteria. Means, medians, percentiles and standard deviation of the analytes and ratios of interest were calculated.
Results:
901 patients (0,15 %) with a positive screening test were referred to clinical evaluation. 230 patients were diagnosed of 30 different inborn errors of metabolism (prevalence 1:2577), 11 of which were not included as a target in the Community of Madrid newborn screening program. The global positive predictive value was 25,6 %. During this period of time, two false negative cases were detected. The most prevalent disorders were phenylketonuria/hyperphenylalaninemia and medium chain acyl-CoA dehydrogenase deficiency (1:6444 and 1:13174 respectively). 93 % of the patients were detected in the presymptomatic stage.
Conclusions:
During the last 9 years a large number of cases of IEM have been detected with an acceptable global positive predictive value. These results confirm the utility of inborn errors of metabolism newborn screening as a public health program.
