Tasa de detección de trisomía 21, 18 y 13 en I trimestre con factores maternos y marcadores ecográficos
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Fecha
2022
Autores
Ruiz Portacio, Ity María
Segovia Muñoz, Dolores Cristina
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Ediciones Universidad Simón Bolívar
Facultad de Ciencias de la Salud
Facultad de Ciencias de la Salud
Resumen
Existe una amplia evidencia de que se puede proporcionar una detección eficaz de anomalías cromosómicas importantes en el primer trimestre del embarazo, la ecografía de primer trimestre tiene como importancia datar y determinar viabilidad del embarazo entre otras, dando una mejor valoración morfológica, tomando gran importancia para el cribado de trisomía 21, 13 y 18. Se ha demostrado que la adición de marcadores ecográficos del primer trimestre como la translucencia Nucal (TN), hueso nasal (HN), valoración del conducto venoso (DV) y la velocidad de la válvula tricúspide (VVT), mejora el rendimiento de la detección. Objetivos: Determinar tasa de detección de aneuploidías en modelo de tamizaje genético que incluye factores maternos y marcadores ecográficos, calculando el riesgo con la calculadora de la Fetal Medicine Foundation y realizando diferentes puntos de corte para la población de alto riesgo: Mayor de 1 en 250, Mayor de 1 en 100 y mayor de 1 en 50. Metodología: Se realizo un estudio retrospectivo, de mujeres embarazadas entre la semana 11 – 13.6, con ecografías realizadas en la unidad de Medicina Maternofetal de Colombia, ubicada en la ciudad de Bucaramanga, en el periodo comprendido de junio de 2017 a junio 2021. Se tomaron marcadores ecográficos del feto como: translucencia nucal (TN), longitud cráneo caudal (LCC), ductus venoso, velocidad de válvula tricúspidea y frecuencia cardiaca fetal. Registrando valores cualitativos, numéricos y factores maternos como edad de la madre, Se realizó análisis epidemiológico enfocado en encontrar la mejor tasa de detección, en diferentes puntos de cortes en el cálculo de riesgo para trisomías entre cortes de 1:250, 1:100 y 1:50, obtener resultados de sensibilidad y especificidad en falsos positivos y falsos negativos.
There is ample evidence that it can provide an effective detection of important chromosomal abnormalities in the first trimester of pregnancy, the first trimester ultrasound is important to date and determine viability of pregnancy among others, giving a better morphological assessment, taking great importance for the screening of trisomy 21, 13 and 18. The addition of first trimester ultrasound markers such as Nuchal translucency (NT), nasal bone (NB), ductus venosus (DV) assessment and tricuspid valve velocity (TVV) has been shown to improve detection performance. Objectives: To determine the aneuploidy detection rate in a genetic screening model that includes maternal factors and ultrasound markers, calculating the risk with the Fetal Medicine Foundation calculator and performing different cut-off points for the high-risk population: greater than 1 in 250, greater than 1 in 100 and greater than 1 in 50. Methodology: A retrospective study was conducted, of pregnant women between 11 - 13.6 weeks, with ultrasound scans performed at the Maternal-Fetal Medicine unit of Colombia, located in the city of Bucaramanga, in the period from June 2017 to June 2021. Fetal ultrasound markers were taken such as: nuchal translucency (NT), caudal cranial length (CCL), ductus venosus, tricuspid valve velocity and fetal heart rate. An epidemiological analysis was performed focused on finding the best detection rate at different cut-off points in the calculation of risk for trisomies between cut-offs of 1:250, 1:100 and 1:50, obtaining results of sensitivity and specificity in false positives and false negatives.
There is ample evidence that it can provide an effective detection of important chromosomal abnormalities in the first trimester of pregnancy, the first trimester ultrasound is important to date and determine viability of pregnancy among others, giving a better morphological assessment, taking great importance for the screening of trisomy 21, 13 and 18. The addition of first trimester ultrasound markers such as Nuchal translucency (NT), nasal bone (NB), ductus venosus (DV) assessment and tricuspid valve velocity (TVV) has been shown to improve detection performance. Objectives: To determine the aneuploidy detection rate in a genetic screening model that includes maternal factors and ultrasound markers, calculating the risk with the Fetal Medicine Foundation calculator and performing different cut-off points for the high-risk population: greater than 1 in 250, greater than 1 in 100 and greater than 1 in 50. Methodology: A retrospective study was conducted, of pregnant women between 11 - 13.6 weeks, with ultrasound scans performed at the Maternal-Fetal Medicine unit of Colombia, located in the city of Bucaramanga, in the period from June 2017 to June 2021. Fetal ultrasound markers were taken such as: nuchal translucency (NT), caudal cranial length (CCL), ductus venosus, tricuspid valve velocity and fetal heart rate. An epidemiological analysis was performed focused on finding the best detection rate at different cut-off points in the calculation of risk for trisomies between cut-offs of 1:250, 1:100 and 1:50, obtaining results of sensitivity and specificity in false positives and false negatives.
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Trisomías, Aneuploidías, Cribado prenatal, Ductus venoso, Translucencia nucal fetal, Marcadores ecográficos, Hueso nasal, Velocidad de válvula tricúspide, Trisomies, Aneuploidies, Prenatal screening, Ductus venosus, Fetal nuchal translucency, Ultrasound markers, Nasal bone, Tricuspid flow
