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      CONSIDERACIONES ÉTICAS DEL USO DE LA ULTRASONOGRAFÍA 11-14 SEMANAS COMO TAMIZAJE DE ANEUPLOIDÍAS EN LA POBLACIÓN CHILENA

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          Abstract

          El examen ultrasonográfico entre las 11-14 semanas de gestación para pesquisa de aneuploidías en el feto se está realizando sistemáticamente en muchos centros asistenciales de nuestro país. Si bien la utilidad diagnóstica de este examen está ampliamente validada, surgen dudas sobre sus reales beneficios y los potenciales riesgos de este método, utilizado como tamizaje, en nuestra población. Esta presentación tiene como objetivo hacer una reflexión sobre esos riesgos y beneficios. Se discuten la utilización de este procedimiento sin un adecuado consentimiento informado, y las implicancias que tiene la instauración rutinaria de este método en el control obstétrico de nuestra población, especialmente al considerar las condiciones en las que en muchos centros se realiza este examen.

          Translated abstract

          The ultrasound screening for aneuploidies between the 11 and 14 weeks of gestation is systematically performed in many centers of our country. Although the usefulness of this diagnostic test is well known, concern has been raised regarding its potential risks, when used as a screening method. The aim of this article is to analyze the risk and benefits of this practice in our population, considering the frequent lack of an informed consent and how is this procedure performed in several medical centers in our country.

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          UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal-translucency thickness at 10-14 weeks of gestation. Fetal Medicine Foundation First Trimester Screening Group.

          N Sebire, R Snijders, K Nicolaides … (1998)
          Prenatal diagnosis of trisomy 21 currently relies on assessment of risk followed by invasive testing in the 5% of pregnancies at the highest estimated risk. Selection of the high-risk group by a combination of maternal age and second-trimester maternal serum biochemistry gives a detection rate of about 60%. We investigated assessment of risk by a combination of maternal age and fetal nuchal-translucency thickness, measured by ultrasonography at 10-14 weeks of gestation. The risk of trisomy 21 was estimated for 96127 women of median age 31 years (range 14-49) with singleton pregnancies. Ultrasonography was done by 306 appropriately trained sonographers in 22 centres. Risk of trisomy 21 was calculated from the maternal age and gestational-age-related prevalence, multiplied by a likelihood ratio depending on the deviation from normal in nuchal-translucency thickness for crown-rump length. The distribution of risks was investigated and the sensitivity of a cut-off risk of 1 in 300 was calculated. Phenotype was assessed by fetal karyotyping or clinical examination of liveborn infants. The estimated trisomy-21 risk, from maternal age and fetal nuchal-translucency thickness, was 1 in 300 or higher in 7907 (8.3%) of 95476 normal pregnancies, 268 (82-2%) of 326 with trisomy 21, and 253 (77.9%) of 325 with other chromosomal defects. The 5% of the study population with the highest estimated risk included 77% of trisomy-21 cases. Selection of the high-risk group for invasive testing by this method allows the detection of about 80% of affected pregnancies. However, even this method of risk assessment requires about 30 invasive tests for identification of one affected fetus.
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            Defects and syndromes in chromosomally normal fetuses with increased nuchal translucency thickness at 10-14 weeks of gestation.

            K Nicolaides, Rosalinde J M Snijders, W Soares … (1998)
            Increased fetal nuchal translucency thickness at 10-14 weeks of gestation is a common phenotypic expression of fetal chromosomal defects, structural abnormalities and genetic syndromes. This study reports on the prevalence of structural abnormalities and genetic syndromes in 4116 chromosomally normal pregnancies with increased fetal nuchal translucency thickness and reviews the relevant literature. In fetuses with increased nuchal translucency thickness, the prevalence of major cardiac defects, diaphragmatic hernia, exomphalos, body stalk anomaly and fetal akinesia deformation sequence is substantially higher than expected in the general population. In addition, there may be an association between increased nuchal translucency thickness and a wide range of rare skeletal dysplasias and genetic syndromes that are usually found in less than one in 10,000 pregnancies; however, the number of affected cases, both in the present and in previous series of fetuses with increased nuchal translucency thickness, is too small for definite conclusions to be drawn. The rates of miscarriage and perinatal death increase, whereas the rate of survival and the prevalence of live births with no obvious abnormalities decrease with increasing nuchal translucency thickness.
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              Screening test for preeclampsia through assessment of uteroplacental blood flow and biochemical markers of oxidative stress and endothelial dysfunction.

              H. Muñoz, Guillermo E Chacon, Ramón Rodrigo … (2005)
              This study was undertaken to evaluate whether screening through a uterine artery (UtA) Doppler and biochemical markers of oxidative stress and endothelial dysfunction predict preeclampsia. UtA Doppler was performed at 11 to 14 and 22 to 25 weeks on 1447 asymptomatic pregnant women. Oxidative stress, endothelial dysfunction, and antiangiogenic state were assessed in women who later developed preeclampsia and normotensive controls. There was a significantly increased of UtA pulsatility index (PI), plasma levels of soluble fms-like tyrosine kinase 1 (sFlt1), PAI-1/PAI-2 ratio, and F-2 isoprostane in women who subsequently developed preeclampsia compared with control pregnancies. Multivariate logistic regression showed that increased UtA PI performed at 23 weeks was the best predictor for preeclampsia. This study demonstrates early changes in markers of impaired placentation, antiangiogenic state, oxidative stress, and endothelial dysfunction suggesting that these derangements may play a role in the pathogenesis of preeclampsia. Our data point to UtA as the best test to predict preeclampsia at 23 weeks of gestation.
              Article 0 comments Cited 22 times – based on 0 reviews     Review now
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                Author and article information

                Journal
                Journal ID (publisher-id): rchog
                Title: Revista chilena de obstetricia y ginecología
                Abbreviated Title: Rev. chil. obstet. ginecol.
                Publisher: Sociedad Chilena de Obstetricia y Ginecología (Santiago, , Chile )
                ISSN (Print): 0048-766X
                ISSN (Electronic): 0717-7526
                Publication date (Print and electronic): 2009
                Volume: 74
                Issue: 1
                Pages: 47-51
                Affiliations
                [02] orgnamePontificia Universidad Católica de Chile orgdiv1Facultad de Medicina orgdiv2Departamento de Ginecología y Obstetricia Chile
                [01] orgnamePontificia Universidad Católica de Chile orgdiv1Facultad de Medicina orgdiv2Servicio de Obstetricia y Ginecología Chile
                Article
                Publisher ID: S0717-75262009000100009 Publisher ID: S0717-7526(09)07400109
                DOI: 10.4067/S0717-75262009000100009
                SO-VID: 4b000e9b-d7b9-4263-9b84-de13abdd6554
                License:

                This work is licensed under a Creative Commons Attribution 4.0 International License.

                History
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                Figures: 0, Tables: 0, Equations: 0, References: 8, Pages: 5
                Product

                SciELO Chile

                Categories
                Subject: Documento

                Keywords: ethic,Translucencia nucal,tamizaje,ética,Nuchal translucency thickness,screening
                Data availability:
                Keywords: ethic, Translucencia nucal, tamizaje, ética, Nuchal translucency thickness, screening

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