Ultrasonography in the diagnosis of Turner Syndrome

a case series

Abstract

OBJECTIVE: To identify the most frequent maternal age in pregnant women with fetus with Turner syndrome, check the most frequent indications for genetic study of patients with Turner syndrome, assess prenatal genetic study procedure more practiced in pregnant women with fetuses Turner Syndrome. METHODS: Retrospective descriptive study that evaluated a number of cases of fetuses with Turner syndrome from January 2009 to December 2014, carried out in Fertile Goiania clinic referred for investigation by amniocentesis or chorionic villus sampling. RESULTS: The total number of pregnant women with fetus with Turner syndrome during the study period was 15 with an average age of 28 years, maternal age which appeared in this group was 20 years and the largest age was 36 years. The age of highest prevalence was 20-30 years with 67% and 30-40 with 33%. These case studies it was observed that 40% of sonographic examinations consisted changes cystic hygroma, 30% change in measuring nuchal translucency, 15% hydrops. The measures of nuchal translucency found were 3.1 mm to 8 mm. The main indications for the examinations of amniocentesis or chorionic villus sampling were the changes of nuchal translucency with 42%, followed by maternal age with 24% and 4% omphalocele. The amniocentesis was performed in 80% and chorionic villus sampling in 20% of cases evaluated in this study. CONCLUSION: The most common maternal age in pregnant women with fetuses with Turner syndrome was 28 years. The most common indication for prenatal genetic study was hygroma cystic followed by translucency nuchal changed. The procedure more used as diagnosis was genetic study amniocentesis (80%).