Omphalocele and nuchal translucency: A case report.

Kontomanolis NE, Georgiadis A, Tsikouras P, Koutlaki N, Galazios G, Limperis V.

Department of Obstetrics & Gynecology, Democritus University, Alexandroupolis, Greece.

Correspondence: Emmanuel N Kontomanolis, MD,PhD, 222 Michael Papadaki str., Ekali 14578

Athens, Greece

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The purpose of the current case report is the presentation of a 36-year-old nullipara woman, at 13weeks of pregnancy with increased nuchal translucency and a large size omphalocele. The mother had no preexisting medical or surgical history. There was no reference of any previous deliveries.
Due to the close relation of an omphalocele with major cardiac anomalies, a detailed second level anomaly scan was performed at 20 weeks of gestation. During scanning the omphalocele’s contents and the increased nuchal translucency were revealed. Fetal karyotype and fetal echocardiography were normal. After further counseling, elective termination of pregnancy was performed, due to the uncertainty that arose regarding the quality of life of this child. Life threatening congenital fetal anomalies
can be detected by combining a detailed anomaly scan and the nuchal translucency evaluation.

Key words: omphalocele; nuchal translucency; fetal congenital anomalies.