International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics · 2026
Prenatal sonographic spectrum and first-trimester diagnostic features of Ebstein anomaly: A descriptive case series.
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Chen Qing, Wu Qiumei, Lyu Guorong, Tian Huagu, Weng Zongjie
Аннотация
OBJECTIVE: This descriptive case series aimed to delineate the prenatal sonographic spectrum of Ebstein anomaly (EA) across all trimesters, analyze common diagnostic pitfalls, and propose systematic imaging clues for first-trimester detection.
METHODS: In this retrospective study, 40 fetuses with EA were included. A standardized echocardiographic protocol integrating transvaginal imaging for the first trimester (n = 7) and multiplanar analysis for the second and third trimesters (n = 33) was applied. Key morphological and functional parameters were documented.
RESULTS: The sonographic spectrum ranged from mild forms with isolated leaflet displacement to severe forms with marked cardiomegaly. In the first trimester, severe cases presented with a recognizable tetrad: (1) leftward cardiac axis deviation (>65°), (2) right atrial enlargement, (3) shortened/displaced septal leaflet with elongated anterior leaflet, and (4) severe low-origin tricuspid regurgitation. Common diagnostic challenges included isolated posterior leaflet displacement, hemodynamic confounders, and confusion with other right heart anomalies.
CONCLUSION: This study describes the detailed prenatal sonographic spectrum of EA and proposes a structured imaging workflow. The identified first-trimester features may serve as preliminary clues for early detection of severe cases, although their diagnostic accuracy requires validation in prospective studies. These findings underscore the importance of a systematic, multiplanar examination to minimize diagnostic errors.
METHODS: In this retrospective study, 40 fetuses with EA were included. A standardized echocardiographic protocol integrating transvaginal imaging for the first trimester (n = 7) and multiplanar analysis for the second and third trimesters (n = 33) was applied. Key morphological and functional parameters were documented.
RESULTS: The sonographic spectrum ranged from mild forms with isolated leaflet displacement to severe forms with marked cardiomegaly. In the first trimester, severe cases presented with a recognizable tetrad: (1) leftward cardiac axis deviation (>65°), (2) right atrial enlargement, (3) shortened/displaced septal leaflet with elongated anterior leaflet, and (4) severe low-origin tricuspid regurgitation. Common diagnostic challenges included isolated posterior leaflet displacement, hemodynamic confounders, and confusion with other right heart anomalies.
CONCLUSION: This study describes the detailed prenatal sonographic spectrum of EA and proposes a structured imaging workflow. The identified first-trimester features may serve as preliminary clues for early detection of severe cases, although their diagnostic accuracy requires validation in prospective studies. These findings underscore the importance of a systematic, multiplanar examination to minimize diagnostic errors.