Predictive value of nuchal translucency for chromosomopathies

Abstract

INTRODUCTION: Prenatal diagnosis (PND) is a set of techniques designed to investigate fetal health during intrauterine life, in order to track genetic or congenital anomalies. Nuchal translucency (TN) is one of these diagnostic tests that, in the face of a positive result of a screening test, will offer the possibility of a diagnostic test, which is inevitably an invasive but high- Such as: the biopsy of the chorionic villi and the amniocentesis. OBJECTIVE: To establish the positive predictive value of TN in the screening of aneuploidy; To establish the most common chromosomal abnormality in fetuses with altered TN. METHODS: Twenty-four fetuses were studied, of which 113 had TN (> =2.5mm) alterations, submitted to confirmation by chorionic villus biopsy or amniocentesis, in which tests of specificity, sensitivity, positive predictive value And negative, between 2008 and 2017 in a clinic in Goiânia. RESULTS: A total of 113 alterations were observed in the total of the 215 TN scan patients, 51 were healthy and 62 confirmed aneuploidy, representing 54.8%. CONCLUSION: The positive predictive value of TN for aneuploidy was 54%; The finding of chromosomal disease more common in fetuses with altered TN was Down’s Syndrome.