Article information
Resumen
Objetivo
Valorar la eficacia del cribado bioquímico-ecográfico de las aneuploidías en el primer trimestre de la gestación así como describir detalladamente la metodología utilizada.
Sujetos y métodosEstudio prospectivo en 3.492 gestantes, portadoras de un feto único, en las que se realiza el cribado bioquímico mediante la fracción beta libre de la gonadotropina coriónica humana y la proteína plasmática A asociada al embarazo, entre las 8 y las 13 semanas de gestación, y el cribado ecográfico, entre las 11 y las 13 semanas, con la medición de la longitud cefalocaudal y del grosor de la translucencia nucal. Se exponen los procedimientos epidemiológico-matemáticos utilizados para estimar el riesgo de que una gestante sea portadora de un feto afectado de aneuploidía.
ResultadosEl cribado bioquímico ecográfico del primer trimestre ha permitido detectar, en esta serie, el 83% (10 de 12) de las trisomías 21, el 86% (18 de 21) de las trisomías autosómicas y el 82% (23 de 28) de todas las aneuploidías, para una tasa de falsos positivos del 5,4%.
ConclusionesEste tipo de cribado presenta una alta efectividad pero precisa una metodología adecuada para la obtención de resultados óptimos.
Palabras clave:
Cribado prenatal
Cribado bioquímico
Cribado ecográfico
Síndrome de Down
Primer trimestre
Abstract
Objective
To evaluate the effectiveness of first-trimester biochemical-ultrasound screening for aneuploidy and to describe the methodology used in detail.
Subjects and methodsWe performed a prospective study of 3492 single pregnancies screened by means of two biochemical markers (free β subunit of human chorionic gonadotropin and pregnancy-associated plasma protein-A) between weeks 8 and 13 of gestation. Ultrasound screening was performed with measurement of nuchal translucency thickness and fetal crown-rump length between weeks 11 and 13. We describe the mathematical and epidemiological methods used to estimate the risk of aneuploidy in individual pregnancies.
ResultsIn our series, the detection rate of first-trimester biochemical-ultrasound screening was 83% (10 of 12) for trisomy 21, 86% (18 of 21) for autosomal trisomies and 82% (23 of 28) for all aneuploidies, with a false-positive rate of 5.4%.
ConclusionsThis type of screening is highly effective but requires appropriate methodology to obtain optimal results.
Keywords:
Prenatal screening
Biochemical screening
Ultrasound screening
Down’s syndrome
First trimester
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