Tamiz metabólico neonatal por espectrometría de masas en tándem: dos años de experiencia en Nuevo León, México

Torres-Sepúlveda, María del Rosario; Villarreal, Laura Elia Martínez-de; Esmer, Carmen; González-Alanís, Rogerio; Ruiz-Herrera, Consuelo; Sánchez-Peña, Alejandra; Mendoza-Cruz, José Alberto; Villarreal-Pérez, Jesús Zacarías

doi:10.1590/s0036-36342008000300003

Cited by 18 publications

(19 citation statements)

References 19 publications

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“…Además, la elevación de forma signifi cativa de la concentración de tirosina en muchos de estos pacientes se produce de forma lenta en el tiempo, lo cual ha inducido a la obtención de falsos negativos en laboratorios que analizan muestras tomadas hasta el segundo día de nacido 12 . También se ha reportado una alta tasa de resultados falsos positivos producto de la alta incidencia en la población neonatal de tirosinemia transitoria, un trastorno metabólico benigno 13 . Esto hace que el tamiz por métodos tradicionales de MS/MS para la tirosinemia tipo I sea bastante discutido, aún cuando su detección temprana posibilita una intervención terapéutica muy efectiva en los pacientes.…”

Section: Biomarcadores De Aminoacidemiasunclassified

“…La utilización de las razones de C3 frente a otras acilcarnitinas (C3/C2, C3/C0 o C3/C16) como marcadores secundarios permite mejorar la especifi cidad de este diagnóstico 3,6,13,33 . En el programa de tamiz neonatal australiano se sustituyó completamente a C3 por la razón C3/C2 como marcador primario para mejorar la sensibilidad 34 .…”

Section: Biomarcadores De Acidemias Orgánicas Y Defectos En La Oxidacunclassified

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Tamiz de los errores innatos del metabolismo por espectrometría de masas en tándem: principales biomarcadores

2011

Rev. méd. Chile

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Tandem mass spectrometry as screening for inborn errors of metabolism The use of tandem mass spectrometry for the diagnosis of inborn errors of metabolism has the potential to expand the newborn screening panel to include a vast number of diseases. This technology allows the detection, in the same spot of dried blood on fi lter paper and during one single analytical run, of different metabolic diseases. Tandem mass spectrometry is rapidly replacing the classical screening techniques approach of one-metabolite detected per analysis per disease by its ability of simultaneous quantifi cation of several metabolites as markers of many diseases, such as acylcarnitines and amino acids. It is clear that a single metabolite can be a biomarker for several diseases, so the multiplex approach of using tandem mass spectrometry enhances, on average, the sensitivity and specifi city of the screening. However, there are differences for particular metabolites and the diseases they detect within the same method. Disorders such as the tyrosinemias and among the organic acidemias, the methylmalonic acidemias, have a substantially higher false-positive rate than other more common metabolic diseases such as medium-chain acyl-CoA dehydrogenase defi ciency and phenylketonuria. Before introducing this technology into routine newborn screening programs it is necessary to consider the frequency of each disease, as well as the response to early treatment or variables related to the collection of the sample.

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Section: Biomarcadores De Aminoacidemiasunclassified

Section: Biomarcadores De Acidemias Orgánicas Y Defectos En La Oxidacunclassified

Tamiz de los errores innatos del metabolismo por espectrometría de masas en tándem: principales biomarcadores

2011

Rev. méd. Chile

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“…A few years later, maple syrup urine disease (MSUD), homocystinuria (HCY), tyrosinemia, galactosemia, and congenital hypothyroidism (CH) were added. 2,4 Nowadays, the diseases included in newborn screening programs, detected by MS/MS, vary widely among countries. In the United States, the implementation of MS/MS is covered in almost all states, each state being in charge of the program management.…”

Section: Introductionmentioning

confidence: 99%

“…Although limited data are available from these investigations, Mexican health providers and researchers still use this information and records from different countries to establish their cutoffs for a positive diagnosis. 2,12,[14][15][16] Out of all diseases detected via the newborn screening program in Mexico, the most frequent one, according to the results of previous studies, is CH, with an incidence of 1/2000 newborns. Moreover, cystic fibrosis (CF) has a reported incidence of 1/3721, and the incidence of sickle cell disease ranges from 1/3721 to 1/5000.…”

Section: Introductionmentioning

confidence: 99%

“…Moreover, cystic fibrosis (CF) has a reported incidence of 1/3721, and the incidence of sickle cell disease ranges from 1/3721 to 1/5000. 2,13 Significant variations arise depending on the region and studied population. 12,13 The retrospective study presented in this work was carried out at the Hospital de Ginecología y Obstetricia SA de CV (Ginequito), which was founded in 1976 and was initially dedicated to address women's needs throughout their lives and to provide newborn care.…”

Section: Introductionmentioning

confidence: 99%

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Incidence of Inborn Errors of Metabolism by Expanded Newborn Screening in a Mexican Hospital

Cantú-Reyna

Zepeda

Montemayor³

et al. 2016

Journal of Inborn Errors of Metabolism and Screening

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Newborn screening for the detection of inborn errors of metabolism (IEM), endocrinopathies, hemoglobinopathies, and other disorders is a public health initiative aimed at identifying specific diseases in a timely manner. Mexico initiated newborn screening in 1973, but the national incidence of this group of diseases is unknown or uncertain due to the lack of large sample sizes of expanded newborn screening (ENS) programs and lack of related publications. The incidence of a specific group of IEM, endocrinopathies, hemoglobinopathies, and other disorders in newborns was obtained from a Mexican hospital. These newborns were part of a comprehensive ENS program at Ginequito (a private hospital in Mexico), from January 2012 to August 2014. The retrospective study included the examination of 10 000 newborns' results obtained from the ENS program (comprising the possible detection of more than 50 screened disorders). The findings were the following: 34 newborns were confirmed with an IEM, endocrinopathies, hemoglobinopathies, or other disorders and 68 were identified as carriers. Consequently, the estimated global incidence for those disorders was 3.4 in 1000 newborns; and the carrier prevalence was 6.8 in 1000. Moreover, a 0.04% false-positive rate was unveiled as soon as diagnostic testing revealed negative results. The most frequent diagnosis was glucose-6-phosphate dehydrogenase deficiency; and in the case of carriers, it was hemoglobinopathies. The benefit of the ENS is clear as it offers prompt treatment on the basis of an early diagnosis including proper genetic counseling. Furthermore, these results provide a good estimation of the frequencies of different forms of newborn IEM, endocrinopathies, hemoglobinopathies, and other disorders at Ginequito.

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Appropriateness of newborn screening for classic galactosaemia: a systematic review

Varela-Lema¹,

Paz-Valiñas²,

Atienza-Merino³

et al. 2016

J of Inher Metab Disea

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Currently, there is no universal agreement on galactosaemia screening, fundamentally because of the risk-benefit uncertainties. We conducted two exhaustive systematic searches in the main electronic databases (PubMed, Embase, Cochrane, etc.) to recover relevant information about the disease and screening test/s in order to support decision making in Spain. All of the 45 studies identified that covered disease issues were retrospective case series or cross-sectional analysis (level-4 evidence). Studies consistently found that the majority of patients presented characteristic symptomatology before diagnosis. Long term disabilities were not significantly correlated with age of diagnosis, onset of dietary restriction or strict diet compliance. The five studies that provided accuracy data used different cut-off points and verification tests, and thus differed in their definitions of a positive case (level-3b evidence). The estimated sensitivity was 100 % and the specificity 99.9 %. The false-positive rate ranged from 0.0005 % to 0.25 %, and the PPV from 0 % to 64.3 %. The comparative clinical effectiveness in relation to not screening or implementation of other programs is unknown. In summary, existing evidence remains insufficient to establish the appropriateness of newborn screening for galactosaemia screening, although health benefits could be expected if early diagnosis and treatment is achieved. If screening is implemented in Spain, it would be important that a pilot programme be implemented to assess false positive rate and ensure that early diagnosis is not delayed.

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Tamiz metabólico neonatal por espectrometría de masas en tándem: dos años de experiencia en Nuevo León, México

Cited by 18 publications

References 19 publications

Tamiz de los errores innatos del metabolismo por espectrometría de masas en tándem: principales biomarcadores

Tamiz de los errores innatos del metabolismo por espectrometría de masas en tándem: principales biomarcadores

Incidence of Inborn Errors of Metabolism by Expanded Newborn Screening in a Mexican Hospital

Appropriateness of newborn screening for classic galactosaemia: a systematic review

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