Newborn screening programs for congenital diseases aim
to achieve a presymptomatic and early diagnosis of treatable
disorders, in order to prevent or significantly reduce morbidity
and/or mortality. ...Many of the conditions included in these
programs are inborn errors of metabolism (IEM); however, the
detection of endocrine, hematological, immunological, cardiovascular
diseases, and congenital hearing loss are also included
in many of them. Newborn screening tests are not diagnostic
and therefore additional tests are needed to confirm or
exclude the suspected diagnosis. The social and professional
demand of the hand of the technological advances and new
therapeutic options, allow the continuous expansion of neonatal
screening; This progress has a clear benefit for patients,
since thanks to the early diagnosis and treatment of their disease
they can have a better prognosis and a better quality of
life. The inclusion criteria of the different diseases should not
be evaluated exclusively in function of the moment in which
the evaluation is carried out, it is necessary to apply a longterm
vision of opportunity based on the strengths of the health
system. Today, after 50 years of experience, we can assure that
neonatal screening programs constitute one of the most significant
advances that have occurred in public health, their widespread
practice has been one of the great achievements in pediatric
healthcare and are marking the healthcare organization
of many adult units. Hand in hand with advances in genetics
and genomics, newborn screening programs will continue to
expand for those disorders in which early intervention can significantly
modify the course of the disease.
Los programas de cribado de enfermedades congénitas en
los recién nacidos tienen como objetivo lograr un diagnóstico
presintomático y temprano de trastornos tratables, con el
fin de prevenir o reducir significativamente la morbilidad
y/o mortalidad. Muchas de las condiciones incluidas en es
estos programas son errores innatos del metabolismo (EIM);
sin embargo, la detección de enfermedades endocrinas, hematológicas,
inmunológicas, cardiovasculares, y la hipoacusia
congénita también se incluyen en muchos de ellos. Las
pruebas de detección de recién nacidos no son diagnósticas
y, por tanto, se necesitan pruebas complementarias para confirmar
o excluir la sospecha diagnóstica. La demanda social
y profesional de la mano de los avances tecnológicos y de
nuevas opciones de tratamiento, permiten la expansión continua
del cribado neonatal; este progreso conlleva un claro
beneficio para los pacientes, pues gracias al diagnóstico y al
tratamiento precoz de su enfermedad pueden tener un mejor
pronóstico y una mejor calidad de vida. Los criterios de
inclusión de las diferentes enfermedades no deben ser valorados
exclusivamente con el prisma del momento en que
se realiza la evaluación, es necesario aplicar una visión de
oportunidad a largo plazo basada en las fortalezas del sistema
sanitario. Hoy en día, tras 50 años de recorrido, podemos
asegurar que los programas de cribado neonatal constituyen
uno de los avances más significativos que se han producido
en salud pública, su práctica generalizada ha significado
uno de los grandes logros asistenciales en pediatría y están
marcando la organización asistencial de muchas unidades de
adultos. De la mano de los avances en genética y genómica,
los programas de cribado del recién nacido continuarán
expandiéndose para aquellos trastornos en los que una intervención
temprana pueda modificar significativamente el
curso de la enfermedad.
Newborn Screening Programs (NSP) in Spain were born in the
city of Granada in 1968. Till the 1980s, they were developed around
the so-called “National Plan for Preventing Subnormality”, covering
up ...to 30% of the Spanish newborns. From 1982, when the health
system management was transferred to the different autonomous regions,
the NSP began to expand, and the bases to transform them into
an organized and multidisciplinary activity, integrated and coordinated
from the National Health System were settled. Despite this expansion,
it is not until the 1990s when their coverage reaches almost
100% newborns in Spain.
NSP grew up asymmetrically across the different autonomous
regions. In 2005 and 2006 the scientific societies SEQC (Spanish
Society of Clinical Chemistry) and AECNE (Spanish Society of
Newborn Screening), coordinated by the Health Promotion Area of
the General Directorate of Public Health, gathered together the necessary
information to elaborate a report on the NSP in Spain addressed
to the Interterritorial Council of the National Health System. In July
2013, that Council approved the seven diseases that should be part of
each region newborn screening panel, being the first step towards the
NSP harmonization in Spain. Currently, the NSP include between 8
and 29 diseases in their panels, thus more still more efforts are needed
in order to achieve a higher uniformity.
Los Programas de Cribado Neonatal (PCN) nacen en España en
Granada en el año 1968. Posteriormente, y hasta los años 80, se fueron
desarrollando en torno al llamado “Plan Nacional de Prevención
de la Subnormalidad” con una cobertura cercana al 30% de los recién
nacidos españoles. A partir de 1982, con el inicio de la gestión de
la sanidad a las comunidades autónomas (CCAA), los PCN se expandieron
y se comenzaron a sentar las bases para que éstos se convirtieran
en una actividad organizada y multidisciplinar, integrados y
coordinados desde el Sistema de Salud. A pesar de dicha expansión
no es hasta el inicio de la década de los 90 cuando se consigue una
cobertura próxima al 100% de los RN en España.
Los PCN fueron creciendo de forma muy asimétrica en las diferentes
CCAA y en los años 2005 y 2006 las Sociedades Científicas
SEQC (Sociedad Española de Química Clínica) y AECNE
(Asociación Española de Cribado Neonatal), con la coordinación
del Área de Promoción de la Salud de la Dirección General de Salud
Pública, recopilaron la información y elaboraron un informe, sobre
los PCN en España para el Consejo Interterritorial del sistema
Nacional de Salud (CISNS). En julio de 2013 este Consejo aprobó
las siete enfermedades que debían formar parte del panel de detección
de los PCN territoriales, primer paso hacia la armonización de
estos programas. Actualmente, los PCN incluyen entre 8 y 29 enfermedades
por lo que es necesario seguir trabajando para conseguir una
mayor uniformidad.
Galician newborn screening program for early
detection of endocrine and metabolic diseases
began in 1978 and was a pioneer in expanded
newborn screening in Spain with the incorporation
of mass ...spectrometry in July 2000. As a primary
objective, 28 diseases are screened, including those
recommended SNS except sickle cell anemia which
is in the inclusion phase.
In its 20-year history, 404,616 newborns (nb)
have been analyzed, identifying 547 cases affected
by the diseases included, with a global incidence of
1: 739 newborns and 1: 1.237 of the screened inborn
errors of metabolism (IEM) (1:1.580 nb if excluding
benign hyperphenylalaninemia-HPA), with an
average participation of 99.35%, progressively
higher during the analyzed period. Among the
pathologies screened, congenital hypothyroidism
(1:2.211 nb), cystinuria (1:4.129 nb) and HPA
(1:5.699 nb), followed by phenylketonuria and cystic
fibrosis (1:10,936 nb) stand out for their incidence.
Sixty-six cases of false positives were identified
(seventeen of them in relation to maternal pathology)
and five false negatives, being the overall PPV
and NPV of the program respectively of 89.2%
and 99.99%, with a sensitivity of 99.09% and
a specificity of 99.98%. The mortality rate of
diagnosed CME patients is 1.52%, with eleven cases
presenting symptoms prior to the screening result
(2%). The intelligence quotient of IEM patients at
risk of neurological involvement is normal in more
than 95% of cases.
El Programa Gallego para la Detección Precoz de
Enfermedades Endocrinas y Metabólicas se inició en
1978 y fue pionero en España en el cribado neonatal
ampliado con la incorporación de la espectrometría
de masas en julio de 2000. Como objetivo primario
se criban veintiocho enfermedades, incluyendo las
de la cartera básica del Servicio Nacional de Salud
excepto la anemia de células falciformes, que está en
fase de inclusión.
En sus veinte años de trayectoria se analizaron
404.616 recién nacidos (RN), identificando 547
casos afectos de las enfermedades incluidas, con
una incidencia global de 1:739 RN vivos y de
1:1.237 RN de las enfermedades metabólicas
congénitas (EMC) cribadas (1:1.580 RN excluyendo
la hiperfenilalaninemia benigna-HPA), con una
participación media del 99,35%, progresivamente
creciente durante el período analizado. Entre las
patologías cribadas destacan por su incidencia el
hipotirodismo congénito (1:2.211 RN), la cistinuria
(1:4.129 RN) y la HPA (1:5.699 RN), seguida de
fenilcetonuria y fibrosis quística (1:10.936 RN).
Se identificaron sesenta y seis casos de falsos
positivos (diecisiete de los mismos en relación con
patología materna) y cinco falsos negativos, siendo
el VPP (valor predictivo positivo) y el VPN (valor
predictivo negativo) global del programa del 89,2%
y 99,99%, respectivamente, con una sensibilidad
de 99,09% y una especificidad del 99,98%. La
tasa de mortalidad de los pacientes con EMC
diagnosticados fue del 1,52%, presentando once
casos sintomatología previa al resultado del cribado
(2%). El cociente intelectual de los pacientes con
EMC y riesgo de afectación neurológica es normal
en más del 95% de los casos.
To identify risk factors for late recovery and failure after ambulatory treatment of exacerbations of chronic bronchitis (CB) and chronic obstructive pulmonary disease (COPD).
Observational, ...non-randomised study of risk factors carried out in 2001 and 2002 in Primary Care practices. Patients aged 40 or older diagnosed with an exacerbation of CB or COPD of probable bacterial etiology were included in the study and followed up for 10 days. Patients were treated with amoxicillin plus clavulanic acid (co-amoxiclav) 500–125
mg tds for 10 days, clarithromycin 500
mg bd for 10 days or moxifloxacin 400
mg od for 5 days.
Two hundred and fifty-two general practitioners participated, registering 1147 valid patients. The rate of failure at day 10 was 15.1% without significant differences among the antibiotic treatments. Median time to recovery was 5 days. Factors significantly associated with late recovery (>5 days) on multivariate analysis were: use of long-term oxygen (OR=1.96; 95%CI=1.35–2.85); use of short-acting beta-2 agonists (OR=1.51; 1.17–1.92). The use of moxifloxacin had a “protective” effect against late recovery compared to co-amoxiclav (OR=0.34; 0.26–0.45) and clarithromycin (OR=0.41; 0.31–2.85). Factors associated with therapeutic failure were: previous hospitalisation (OR=1.61; 1.08–2.42); and 2 or more exacerbations the previous year (OR=1.51; 1.04–2.17); criteria of CB had a protective effect against failure (OR=0.53; 0.35–0.79).
There are readily identifiable risk factors for ambulatory treatment failure of exacerbations of CB and COPD. In addition, long-term oxygen therapy and short-acting beta-2 agonists are associated with late recovery, and the use of moxifloxacin compared with co-amoxiclav and clarithromycin is associated with faster recovery of symptoms.
Newborn screening programs for congenital diseases aim to achieve a presymptomatic and early diagnosis of treatable disorders, in order to prevent or significantly reduce morbidity and/or mortality. ...Many of the conditions included in these programs are inborn errors of metabolism (IEM); however, the detection of endocrine, hematological, immunological, cardiovascular diseases, and congenital hearing loss are also included in many of them. Newborn screening tests are not diagnostic and therefore additional tests are needed to confirm or exclude the suspected diagnosis. The social and professional demand of the hand of the technological advances and new therapeutic options, allow the continuous expansion of neonatal screening; This progress has a clear benefit for patients, since thanks to the early diagnosis and treatment of their disease they can have a better prognosis and a better quality of life. The inclusion criteria of the different diseases should not be evaluated exclusively in function of the moment in which the evaluation is carried out, it is necessary to apply a long-term vision of opportunity based on the strengths of the health system. Today, after 50 years of experience, we can assure that neonatal screening programs constitute one of the most significant advances that have occurred in public health, their widespread practice has been one of the great achievements in pediatric healthcare and are marking the healthcare organization of many adult units. Hand in hand with advances in genetics and genomics, newborn screening programs will continue to expand for those disorders in which early intervention can significantly modify the course of the disease.
Galician newborn screening program for early detection of endocrine and metabolic diseases began in 1978 and was a pioneer in expanded newborn screening in Spain with the incorporation of mass ...spectrometry in July 2000. As a primary objective, 28 diseases are screened, including those recommended SNS except sickle cell anemia which is in the inclusion phase. In its 20-year history, 404,616 newborns (nb) have been analyzed, identifying 547 cases affected by the diseases included, with a global incidence of 1: 739 newborns and 1: 1.237 of the screened inborn errors of metabolism (IEM) (1:1.580 nb if excluding benign hyperphenylalaninemia-HPA), with an average participation of 99.35%, progressively higher during the analyzed period. Among the pathologies screened, congenital hypothyroidism (1:2.211 nb), cystinuria (1:4.129 nb) and HPA (1:5.699 nb), followed by phenylketonuria and cystic fibrosis (1:10,936 nb) stand out for their incidence. Sixty-six cases of false positives were identified (seventeen of them in relation to maternal pathology) and five false negatives, being the overall PPV and NPV of the program respectively of 89.2% and 99.99%, with a sensitivity of 99.09% and a specificity of 99.98%. The mortality rate of diagnosed CME patients is 1.52%, with eleven cases presenting symptoms prior to the screening result (2%). The intelligence quotient of IEM patients at risk of neurological involvement is normal in more than 95% of cases.
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