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Revista chilena de obstetricia y ginecología

versión On-line ISSN 0717-7526

Resumen

FANDINO-LOSADA, Andrés et al. Variabilidad de las indicaciones en el diagnóstico prenatal del síndrome de Down. Rev. chil. obstet. ginecol. [online]. 2016, vol.81, n.1, pp.22-27. ISSN 0717-7526.  http://dx.doi.org/10.4067/S0717-75262016000100004.

Introduction: For prenatal diagnosis of Down syndrome (DS), the protocols have evolved through the construction of indications for invasive procedures through karyotyping or molecular tests confirmed the diagnosis in utero. Objective: To analyze and characterize the indications of prenatal invasive procedures that are performed karyotype and specifically those who had diagnosis of (DS) in Cali, Colombia. Methods: Crossover design study to characterize signs of invasive diagnostic procedures in prenatal genetic diagnosis center in Cali. 623 cases were analyzed (January 2013 - February 2015). Results: Of all performed invasive procedures, 7.1% were diagnosed with DS. The most common indications were the findings of malformations in ultrasound examinations (45.4%); the indication with the highest positive predictive value was the nuchal translucency with other sonographic marker (60.0%). In addition, a higher positive predictive value of invasive diagnostic procedures for SD was found, in the age group between 35-39 years (21.6%) compared with the group of 40 and older (4.9%); this probably secondary to the invasive procedure directed in the first group were different maternal age. Conclusions: In Colombia, first help to suspect diagnosed DS in utero is second trimester ultrasound. Maternal age, anxiety and impaired nuchal translucency also play an important role in this diagnosis.

Palabras clave : Down syndrome; prenatal diagnosis; invasive procedures; karyotype.

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