Can Prenatal Diagnosis of Total Anomalous Pulmonary Venous Return (TAPVR) Using Routine Fetal Ultrasound be Improved? A Case-Control Study

Abstract

Objectives. To determine the most common fetal ultrasound markers of total anomalous pulmonary venous return (TAPVR) during mid-trimester ultrasound using standardly obtained images and evaluate the performance of diagnostic algorithms for improving prenatal diagnosis. Methods. This was a matched case-control study at a regional referral centre (2005 to 2019). Cases of TAPVR were matched to controls 1 : 4 by date of birth and biologic sex. Postprocessing review of stored fetal ultrasound images was performed by two blinded and independent observers in a standardized fashion using nine sonographic markers: (i) left/right heart disproportion; (ii) abnormal distribution of great vessels; (iii) pulmonary vein entry into the left atrium (LA); (iv) confluence behind the LA; (v) abnormal coronary sinus; (vi) absence of the Coumadin ridge; (vii) aortic diameter; (viii) distance between LA and aorta; and (ix) post-LA space index >1.27. Descriptive and inferential statistics were used to present results and compare cases and controls. Diagnostic algorithms were compared by sensitivity/specificity. Results. 21 cases of isolated TAPVR were matched to 84 controls (n = 105). The most common ultrasound marker of TAPVR was absence of pulmonary vein entry into the LA (42.9%), followed by abnormal Coumadin ridge (38.1%). Cases of TAPVR had significantly larger post-LA spaces than controls ( p < 0.0001 ) and wider aortic diameters ( p = 0.006 ). A diagnostic algorithm stratifying on absence of pulmonary veins followed by an abnormal Coumadin ridge, can correctly identify cases of TAPVR with high specificity (90.5%) and moderate sensitivity (61.9%). Conversely, a diagnostic algorithm using the presence of any 3 abnormal markers had improved specificity (94.1%) but poorer sensitivity (23.8%). Conclusions. Using standardly obtained images from routine fetal ultrasound, improved prenatal detection of isolated TAPVR is possible. A standardized diagnostic approach can be highly specific for fetal TAPVR, however, algorithms that are sufficiently sensitive for screening in the general population are still needed.

Prenatal diagnosis of anomalous drainage of the right superior vena cava to the left atrium

“…With supracardiac total or partial anomalous pulmonary venous return (TAPVR/PAPVR), dilation of the RSVC occurs from pulmonary venous drainage through this vessel. While prenatal diagnosis of TAPVR remains challenging, identifying a smoothwalled left atrium, an increased/hypoechoic "space" between the LA and the descending aorta, and a confluence posterior to the LA ("twig sign") can aid in this diagnosis [20][21][22].…”

Prenatal Ultrasound Markers of Isolated Total Anomalous Pulmonary Venous Return and a Sequential Approach to Reach Diagnosis

“…Previous studies have identified several sonographic markers for screening and diagnosing fetal TAPVR cases. [ 3 4 8 9 ] These sonographic markers are categorized as either morphological features or hemodynamic changes in TAPVR and are commonly classified as direct or indirect markers.…”

“…These markers are primarily based on morphological features (e.g., increased post-LA space) or on hemodynamic changes (ventricular disproportion in later gestational age, dilated superior vena cava [SVC] or coronary sinus, and abnormal Doppler waveforms) in such cases. [ 8 9 ] It is important to note that indirect markers may not lead to a straightforward TAPVR diagnosis but rather raise suspicion.…”

“…This marker is the most common in the cases of TAPVR and is considered a major diagnostic criterion for fetal cases. [ 3 8 ] Guidelines for fetal cardiac screening recommended attempting to visualize at least one pulmonary vein entering LA in the four-chamber view on B-mode imaging. [ 19 ] In the four-chamber view, a characteristic feature is the presence of a left and a right pulmonary vein entry at the posterior wall of the LA, forming a horn-like insertion [ Figure 1 a].…”