• A Gerede, M Zafrakas, P Papasozomenou, S Papanikolopoulou, and A Athanasiadis.
• Practice for Prenatal Diagnosis, Kavala, Greece.
• Hippokratia. 2024 Jan 1; 28 (1): 384038-40.

BackgroundTrisomy 13 is a chromosomal defect with high prenatal and postnatal mortality that may reach 87 % during the first year of life. More than 90 % of cases of fetuses with trisomy 13 may be detected by first-trimester ultrasound based on severe fetal structural malformations together with increased nuchal translucency thickness.Case DescriptionWe report a case of a fetus with trisomy 13 mosaicism with only anomalous findings on prenatal ultrasound of a single umbilical artery and increased nuchal translucency in the absence of major structural abnormalities.ConclusionThis case highlights the importance of performing first-trimester fetal ultrasound by specialists in Fetal Medicine to avoid misdiagnosis. Trisomy 13 should be included in the differential diagnosis and prenatal counseling in cases with a single umbilical artery and increased fetal nuchal translucency, even in the absence of major anatomic anomalies. HIPPOKRATIA 2024, 28 (1):38-40.Copyright 2024, Hippokratio General Hospital of Thessaloniki.

5 keywords...

hide…