2023, Número 6
<< Anterior Siguiente >>
Acta Pediatr Mex 2023; 44 (6)
Momento óptimo para la toma de muestra de sangre para el tamiz neonatal metabólico
Vela AM
Idioma: Español
Referencias bibliográficas: 37
Paginas: 491-498
Archivo PDF: 230.07 Kb.
FRAGMENTO
INTRODUCCIÓN
El tamiz neonatal metabólico es un método importante para la detección
temprana de enfermedades congénitas y su utilidad ha sido
ampliamente demostrada. El tamiz neonatal metabólico no es una
simple prueba de laboratorio, sino un complejo sistema con reglas
y principios, que consta de múltiples componentes: organización y
administración, selección y evaluación del panel de enfermedades
a tamizar, comunicación, aseguramiento de la calidad, diagnóstico,
tratamiento y seguimiento médico, asesoramiento genético, evaluación
del programa, capacitación, educación y financiamiento continuo,
entre otros.
Uno de los puntos clave para asegurar el éxito de los programas de tamiz
neonatal metabólico es decidir el momento ideal para la obtención de
la muestra de sangre del recién nacido.2,9 Además, conocer la edad
ideal en la que debe tomarse la muestra es una de las dudas que con
mayor frecuencia tiene el personal de salud, por lo que es fundamental
actualizar los conocimientos para saber cuándo debe recolectarse la
muestra, y conocer los riesgos, beneficios, ventajas y desventajas de
obtenerla a determinada edad.
REFERENCIAS (EN ESTE ARTÍCULO)
Centers for Disease Control and Prevention (CDC). Ten greatpublic health achievements--United States, 2001-2010.MMWR Morb Mortal Wkly Rep 2011; 60 (19): 619-23.
Hoffmann GF, Lindner M, Loeber JG. 50 years of newbornscreening. J Inherit Metab Dis 2014; 37 (2): 163-4. doi:10.1007/s10545-014-9688-5.
Almannai M, Marom R, Sutton VR. Newborn screening:a review of history, recent advancements, and futureperspectives in the era of next generation sequencing.Curr Opin Pediatr 2016; 28 (6): 694-699. doi: 10.1097/MOP.0000000000000414.
Parisi MA, Caggana M, Cohen JL, Gold NB, et al. When isthe best time to screen and evaluate for treatable geneticdisorders?: A lifespan perspective. Am J Med Genet CSemin Med Genet 2023; 193 (1): 44-55. doi: 10.1002/ajmg.c.32036.
Pass KA, Lane PA, Fernhoff PM, Hinton CF, et al. US newbornscreening system guidelines II: follow-up of children,diagnosis, management, and evaluation. Statement ofthe Council of Regional Networks for Genetic Services(CORN). J Pediatr 2000; 137 (4 Suppl): S1-46. doi: 10.1067/mpd.2000.109437.
McCabe ER. Newborn screening: A complex system thatrequires a culture of safety. Mol Genet Metab 2014; 113(1-2): 6-7. doi:10.1016/j.ymgme.2014.03.001.
Urv TK, Parisi MA. Newborn Screening: Beyond the Spot.Adv Exp Med Biol 2017; 1031: 323-346. doi: 10.1007/978-3-319-67144-4_19.
McCabe ERB. Newborn screening system: Safety, technology,advocacy. Mol Genet Metab 2021; 134 (1-2): 3-7. doi:10.1016/j.ymgme.2021.07.003.
Odenwald B, Brockow I, Hanauer M, Lüders A, et al. Is OurNewborn Screening Working Well? A Literature Review ofQuality Requirements for Newborn Blood Spot Screening(NBS) Infrastructure and Procedures. Int J Neonatal Screen2023; 9 (3): 35. doi: 10.3390/ijns9030035.
Tang H, Feuchtbaum L, Neogi P, Ho T, et al. Damagedgoods? an empirical cohort study of blood specimens collected12 to 23 hours after birth in newborn screening inCalifornia. Genet Med 2016; 18 (3): 259-64. doi: 10.1038/gim.2015.154.
Lineamiento Técnico: Tamiz neonatal: Detección, diagnóstico,tratamiento y seguimiento de los errores innatosdel metabolismo. CNEGSR, 2010. https://www.gob.mx/cms/uploads/attachment/file/13774/TN_E_Innatos_Metabolismo.pdf
Vela Amieva M, Aguirre BE, Zamudio A, Gamboa S, et al.Técnica de toma de sangre del cordón umbilical para tamizneonatal. Acta Pediatr Méx 2000; 21 (6): 252-256.
García-Flores EP, Herrera-Maldonado N, Hinojosa-TrejoMA, Vergara-Vázquez M, et al. Avances y logros del programade tamiz metabólico neonatal en México (2012-2018).Acta Pediatr Mex 2018; SI (39): 57S-65S.
Centers for Disease Control and Prevention (CDC). Good laboratorypractices for biochemical genetic testing and newbornscreening for inherited metabolic disorders. MMWRRecomm Rep 2012; 61 (RR-2): 1-44. PMID: 22475884.
Newborn Screening Timeliness Goals. Advisory Committeeon Heritable Disorders in Newborns and Children, HealthResources & Services Administration (HRSA). https://www.hrsa.gov/advisory-committees/heritable-disorders/newborn-screening-timeliness
CLSI Blood Collection on Filter Paper for Newborn ScreeningPrograms; Approved Standard. 6th Ed. CLSI DocumentNBS01-A6. Wayne, PA: 2013, Clinical and LaboratoryStandards Institute.
Loeber JG, Platis D, Zetterström RH, Almashanu S, et al.Neonatal Screening in Europe Revisited: An ISNS Perspectiveon the Current State and Developments Since 2010. Int JNeonatal Screen 2021; 7 (1): 15. doi: 10.3390/ijns7010015.
Queiruga G, Lemes A, Ferolla C, Machado M, et al. Pesquisaneonatal: lo que puede prevenir una gota de sangre:Jornada Memoria de Actualidad y Nuevas Metas en laImplementación del Sistema Nacional de Pesquisa Neonatal(SNPN). Centro de Estudios en Seguridad Social, Saludy Administración, Montevideo, Uruguay, 2010. https://www.bps.gub.uy/bps/file/6484/1/pesquisa-neonatal.pdf
Programa Nacional de Tamizaje Neonatal de Costa Rica.https://tamizaje.asta.cr/
Sontag MK, Miller JI, McKasson S, Sheller R, et al. Newbornscreening timeliness quality improvement initiative: Impactof national recommendations and data repository. PLoS One2020; 15 (4): e0231050. doi: 10.1371/journal.pone.0231050.
Simon NJ, Atkins A, Yusuf C, Tarini BA. Systems Integration:The Next Frontier in Newborn-Screening Timeliness. J PublicHealth Manag Pract 2020; 26 (6): E8-E15. doi: 10.1097/PHH.0000000000000968. PMID: 30789598.
Martín-Rivada Á, Palomino-Pérez L, Ruiz-Sala P, NavarreteR, et al. Diagnosis of inborn errors of metabolism withinthe expanded newborn screening in the Madrid region.JIMD Rep 2022; 63 (2): 146-161. doi: 10.1002/jmd2.12265.
Haijes HA, Molema F, Langeveld M, Janssen MC, et al. Retrospectiveevaluation of the Dutch pre-newborn screeningcohort for propionic acidemia and isolated methylmalonicacidemia: What to aim, expect, and evaluate from newbornscreening? J Inherit Metab Dis 2020; 43 (3): 424-437. doi:10.1002/jimd.12193.
Newborn Screening Information for Providers: Blood SpotCollection, Minnesota Department of Health. https://www.health.state.mn.us/people/newbornscreening/providers/collection.html#timing
Peng G, Tang Y, Cowan TM, Zhao H, et al. Timing of NewbornBlood Collection Alters Metabolic Disease ScreeningPerformance. Front Pediatr 2021; 8: 623184. doi: 10.3389/fped.2020.623184.
CLSI. Newborn Screening for Preterm, Low Birth Weight,and Sick Newborns. Approved Guideline. CLSI documentNBS03-A. Wayne, PA: Clinical and Laboratory StandardsInstitute, 2009.
Association of Public Health Laboratories. NewbornScreening Analyte Interference List. https://www.aphl.org/programs/newborn_screening/Pages/NBS%20Interference%20List.aspx
Holtkamp U, Klein J, Sander J, Peter M, et al. EDTA in driedblood spots leads to false results in neonatal endocrinologicscreening. Clin Chem 2008; 54 (3): 602-5. doi: 10.1373/clinchem.2007.096685.
Fingerhut R, Dame T, Olgemöller B. Determination of EDTAin dried blood samples by tandem mass spectrometryavoids serious errors in newborn screening. Eur J Pediatr2009; 168 (5): 553-8. doi: 10.1007/s00431-008-0788-9.
McHugh D, Cameron CA, Abdenur JE, AbdulrahmanM, et al. Clinical validation of cutoff target ranges innewborn screening of metabolic disorders by tandemmass spectrometry: a worldwide collaborative project.Genet Med 2011; 13 (3): 230-54. doi: 10.1097/GIM.0b013e31820d5e67.
Liu Z, Jin H, Ye M, Han R, et al. Optimization of PhenylalanineCut-Off Value in Newborn Screening Based on BloodSampling Time. Am J Perinatol 2022. doi: 10.1055/s-0042-1759720.
la Marca G, Carling RS, Moat SJ, Yahyaoui R, et al. CurrentState and Innovations in Newborn Screening: Continuingto Do Good and Avoid Harm. Int J Neonatal Screen 2023;9 (1): 15. doi: 10.3390/ijns9010015.
Kamleh M, Williamson JM, Casas K, Mohamed M. Reductionin Newborn Screening False Positive Results Followinga New Collection Protocol: a Quality Improvement Project.J Pediatr Pharmacol Ther 2021; 26 (7): 723-727. doi:10.5863/1551-6776-26.7.723.
Cochran AL, Tarini BA, Kleyn M, Zayas-Cabán G. NewbornScreening Collection and Delivery Processes in MichiganBirthing Hospitals: Strategies to Improve Timeliness. MaternChild Health J 2018; 22 (10): 1436-1443. doi: 10.1007/s10995-018-2524-z.
Ikeri K, Quinones Cardona V, Menkiti OR. Improving timelinessof newborn screens in the neonatal intensive careunit: a quality improvement initiative. J Perinatol 2021; 41(5): 1166-1173. doi: 10.1038/s41372-021-00985-z.
Kronn D. Navigating Newborn Screening in the NICU: AUser's Guide. Neoreviews 2019; 20 (5): e280-e291. doi:10.1542/neo.20-5-e280.
Ibarra-González I, Gutiérrez-Morales G, Vela-AmievaM, Castillo-Mogel JA, et al. Retos y oportunidades en laimplementación del tamiz neonatal para fibrosis quística.Acta Pediatr Mex 2018; SI (39): 35S-46S.