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. 2020 Dec 16:94:e202012185.

[Newborn Screening Program in the Community of Madrid: evaluation of positive cases]

[Article in Spanish]
Ana Cambra Conejero  1 , Laura Martínez Figueras  1 , Alicia Ortiz Temprado  1 , Paula Blanco Soto  1 , Álvaro Martín Rivada  2 , Laura Palomino Pérez  2 , Elvira Cañedo Villarroya  2 , Consuelo Pedrón Giner  2 , Pilar Quijada Fraile  3 , Elena Martín-Hernández  3 , María Teresa García Silva  3 , Silvia Chumillas Calzada  3 , Marcello Bellusci  3 , Amaya Belanger-Quintana  4 , Sinziana Stanescu  4 , Mercedes Martínez-Pardo Casanova  4 , Ana Moráis López  5 , Ana Bergua Martínez  5 , Pedro Ruiz-Salas  6 , Belén Pérez González  6 , Magdalena Ugarte  6 , Miguel L F Ruano  1
Affiliations

[Newborn Screening Program in the Community of Madrid: evaluation of positive cases]

[Article in Spanish]
Ana Cambra Conejero et al. Rev Esp Salud Publica. .

Abstract
in English, Spanish

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.

Objetivo: La tecnología de espectrometría de masas en tándem (MS/MS) en los programas de cribado neonatal ha permitido la detección de gran número de errores congénitos del metabolismo (ECM). En la comunidad de Madrid se implementó en marzo de 2011 incluyendo 13 aminoacidopatías, defectos de la β-oxidación de ácidos grasos y acidemias orgánicas. El objetivo de este estudio fue describir nuestra experiencia y analizar los casos positivos de cribado en un periodo de 9 años (2011-2019).

Metodos: Durante el periodo de estudio se realizó el cribado mediante MS/MS a 592822 recién nacidos en la Comunidad de Madrid. Se cuantificaron aminoácidos, acilcarnitinas y succinilacetona en todas las muestras que cumplieron los criterios de calidad. Se calcularon medias, medianas, percentiles y desviación típica de los analitos y ratios de interés.

Resultados: Se derivaron a las unidades clínicas de seguimiento por sospecha de una ECM un total de 901 (0,15 %) casos. Se confirmaron 230 casos de 30 ECM diferentes (prevalencia 1:2577), 11 de los cuales no eran inicialmente objetivo de detección del programa. El valor predictivo positivo global fue de 25,6 %. Durante este periodo se detectaron dos falsos negativos. Las enfermedades con mayor prevalencia fueron fenilcetonuria/hiperfenilalaninemia y deficiencia de acil-CoA deshidrogenasa de cadena media (1:6444 y 1: 13174 respectivamente). 93 % de los casos fueron detectados en fase presintomática.

Conclusiones: En estos 9 años de experiencia se han detectado numerosos casos de ECM con un valor predictivo positivo global aceptable. Estos resultados confirman la utilidad del cribado neonatal de ECM como programa de salud pública.

Keywords: Expanded newborn screening; False positive; Inborn errors of metabolism; Spain; Tandem mass spectrometry.

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Conflict of interest statement

Disclosure The authors report no conflicts of interest in this work.

Figures

Figura 1
Figura 1. Evolución de casos enviados con sospecha a las UCS
See this image and copyright information in PMC

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Supplementary concepts