에드워드 증후군의 산전 초음파 소견

Abstract

Purpose: The purpose is to aid in the diagnosis and obstetric management by analysing the ultrasonographic findings of prenatally diagnosed Edward syndrome. Method: The study population consisted of 15 cases prenatally diagnosed Edward syndrome from January 1993 to January 1999. The medical charts and ultrasonographic findings were reviewed retrospectively, and especially the ultrasonographic findings before prenatal genetic diagnosis were anlyzed. Results: All of the 15 cases reviewed showed at least one ultrasonographic finding suggesting Edward syndrome. In the first trimester, 2 cases revealed cystic hygroma and increased nuchal translucency, and after the second trimester, major structural anomalies including congenital heart anomalies and minor ultrasonographic findings such as choroid plexus cyst were noted. All of cases after 21 weeks of gestation showed congenital heart anomaly, and as the pregnancy progressed there was an increased tendency of intrauterine growth restriction and polyhydramnios. Conclusion: Prenatal ultrasonography in the screening process of Edward syndrome can be placed as a very informative method, as all of the Edward syndrome cases revealed at least one abnormal ultrasonographic findings. As congenital heart anomalies were found in all of the cases after 21 weeks of gestation, fetal echocardiography should be considered in evaluating suspected cases of Edward syndrome.