Bilateral Lower Extremity Agenesis: Case Report and the Importance of Transvaginal Sonography in Early Antenatal Diagnosis of Fetal Anomalies

Background: To present bilateral lower extremity agenesis which is a rare anomaly and to point out importance of transvaginal sonography (TVS) for the antenatal diagnosis of such anomalies during early in pregnancy. Case: A 25 year-old pregnant woman admitted to our department for first trimester nuchal translucency screening sonography. TVS revealed a 12 weeks and 2 days fetus with positive cardiac activity. Nuchal translucency was measured 1.6 mm. During sonographic fetal anatomic screening absence of bilateral lower extremities were detected. Cranium, thorax, abdominal structures and upper extremities were normal. When the family informed, termination of the pregnancy was decided. After the termination, macroscopic examination of the fetus revealed absence of lower extremities. Conclusion: TVS is a very useful tool for the antenatal diagnosis of major fetal anomalies like extremity agenesis during the first trimester. Therefore, everyone should get benefit from this technique in early pregnancy.