Estado actual del cribado prenatal de cromosomopatías en España: Resultados encuesta SEQC 2013

Alcaine, M.a José; Aulesa, C; Barrenechea, Eva; Casals, Elena; González, C.; Martín, I.; Martínez, M.a Concepción; Martínez, Pilar; Méndez, Helena; Prieto, Belén; Suárez, Julia; Tejedor, Elvira

doi:10.1016/j.labcli.2015.07.002

Cited by 2 publications

(1 citation statement)

References 21 publications

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“…The most widespread screening tests for chromosomal abnormalities are conventional karyotyping and FISH or QF-PCR for chromosomes 13, 18, 21, X, and Y. Unlike conventional karyotyping, FISH or QF-PCR do not require previous fetal cell culture and provides results within 48 h [7].…”

Section: Introductionmentioning

confidence: 99%

Assessment of a change of protocol of prenatal screening by inclusion of non-invasive prenatal diagnosis

Cabra-Rodríguez

Rodríguez

Rosa

et al. 2020

Advances in Laboratory Medicine / Avances en Medicina De Laboratorio

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AbstractObjectivesNon-invasive prenatal screening (NIPS) is a test for the detection of major fetal chromosomal abnormalities in maternal blood during pregnancy. The purpose of this study was to assess the performance of NIPS implemented within the framework of the Screening Program for Congenital Abnormalities of the Andalusian Health System.MethodsA retrospective observational study was undertaken to determine the number of NIPS tests performed since its introduction. The number of invasive diagnostic tests done after the implementation of NIPS in the patients included in the program between March 2016 and August 2017 was also quantified.ResultsA total of 6,258 combined first- and second trimester screening tests were performed, covering 95% of the population. In total, 250 subjects were identified as high risk, of whom 200 underwent NIPS after loss to follow-up. NIPS showed a sensitivity of 100% (95% CI: 76.84–100%) and a specificity of 99.46% (95% CI: 97.04–99.99%).ConclusionsThis test has proven to have a very high sensitivity and specificity. The results obtained demonstrate that the incorporation of NIPS in clinical practice minimizes the rate of miscarriages and reduces the frequency of invasive procedures by 70%.

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Section: Introductionmentioning

confidence: 99%

Assessment of a change of protocol of prenatal screening by inclusion of non-invasive prenatal diagnosis

Cabra-Rodríguez

Rodríguez

Rosa

et al. 2020

Advances in Laboratory Medicine / Avances en Medicina De Laboratorio

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Valoración de un cambio de protocolo del cribado prenatal mediante la inclusión del diagnóstico prenatal no invasivo

Cabra-Rodríguez

Rodríguez

Rosa

et al. 2020

Advances in Laboratory Medicine / Avances en Medicina De Laboratorio

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ResumenObjetivosEl diagnóstico prenatal no invasivo (DPNI) es un test que permite detectar en la sangre materna las principales alteraciones cromosómicas del feto durante el embarazo. El objetivo es evaluar el DPNI, valorando su rendimiento dentro del Programa Andaluz de Cribado de Anomalías Congénitas del Sistema Sanitario Público Andaluz.MétodosEstudio observacional retrospectivo en el que se analizan los DPNI realizados desde su incorporación, además del número de procedimientos diagnósticos invasivos tras la implementación del DPNI en gestantes incluidas en el programa entre marzo del año 2016 y agosto del 2017.ResultadosSe realizaron 6.258 cribados combinados en gestantes de primer y segundo trimestre, con una cobertura de la población del 95%; se obtuvo un cálculo de riesgo elevado (≥1/280) en 250 gestantes, de los cuales el DPNI se aplicó en 200 gestantes después de asumir las pérdidas. La sensibilidad obtenida fue de 100% (IC 95%:76,84 a 100%) y la especificidad de 99,46% (IC 95%:97,04 a 99,99%).ConclusionesEste test es muy sensible, con alta especificidad. En nuestro estudio, la incorporación del DPNI en la práctica clínica minimiza las pérdidas fetales y reduce en un 70% la realización de procedimientos invasivos.

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Estado actual del cribado prenatal de cromosomopatías en España: Resultados encuesta SEQC 2013

Cited by 2 publications

References 21 publications

Assessment of a change of protocol of prenatal screening by inclusion of non-invasive prenatal diagnosis

Assessment of a change of protocol of prenatal screening by inclusion of non-invasive prenatal diagnosis

Valoración de un cambio de protocolo del cribado prenatal mediante la inclusión del diagnóstico prenatal no invasivo

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