Key result
Fetal echocardiography detects obstructed infradiaphragmatic TAPVR via the novel twig sign.
Why the study?
Late-term fetal echocardiography is challenging and often delayed until after birth, creating gaps in diagnosis and care for critical cardiac conditions like isolated TAPVR.
Case Report (n=1)
Urgent fetal echocardiography in late gestation is crucial for diagnosing critical congenital heart diseases like TAPVR, enabling prompt postnatal surgical intervention.
Answers are grounded in this paper and cite their sources.
May support late fetal echocardiography for obstructed TAPVR detection; leaves open whether it improves outcomes in this rare condition.
Late-term fetal echocardiography can be challenging due to fetal position, acoustic windows, and difficulty obtaining all the necessary cardiac views. These challenges can create temptation to delay diagnostic cardiac imaging until after birth, in late third trimester patients. However, there are many critical cardiac diagnoses that can be harmed by that approach, leading to gaps in knowledge and care in the immediate perinatal period. Urgent referrals for fetal echocardiography in appropriate settings are essential, even in the third trimester. Isolated total anomalous pulmonary venous return (TAPVR) is an uncommon but serious form of critical congenital heart disease that is rarely diagnosed, in utero, but illustrates the vital importance of prenatal diagnosis, before birth. In this case study, a late term patient was urgently referred for fetal echocardiography for right/left heart discrepancy, at 37 5/7 weeks. Because of right ventricle enlargement a coarctation was suspected. A full fetal cardiac evaluation demonstrated a “twig sign,” not appreciated on the detailed obstetric sonogram, which led to a diagnosis of obstructed infradiaphragmatic TAPVR. Isolated TAPVR is difficult to diagnosis prenatally, with a detection rate of 2-10% but requires emergent evaluation and surgical repair soon after birth. This unique late term case study highlights the importance of urgent cardiac referrals, even in late gestation when delivery is imminent.
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Park et al. (2025) conducted a case report in Right/left heart discrepancy / suspected coarctation (n=1). Fetal echocardiography was evaluated on Diagnosis of obstructed infradiaphragmatic TAPVR. Fetal echocardiography in a late-term patient at 37 5/7 weeks gestation successfully identified a 'twig sign' leading to the diagnosis of obstructed infradiaphragmatic TAPVR.
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