Abstract
The frequency of chromosomal anomalies among fetuses with isolated persistent left superior vena cava (PLSVC) is still debated. The objective of the present study was to assess the prevalence of genetic and morphological anomalies identified in fetuses with PLSVC. We conducted a single-center retrospective study including all fetuses diagnosed with a PLSVC between 2010 and 2017. PLSVC was categorized as isolated or associated according to antenatal diagnosis of associated congenital heart defects, hypoplastic aortic isthmus, abnormal venous/arterial connections, and extracardiac anomalies. Among 229 fetuses diagnosed with PLSVC, 39 cases (17%) were strictly isolated and no syndromic/genetic anomaly or aortic coarctation was diagnosed. Seventy-two fetuses had a cardiovascular defect with a rate of genetic anomalies of 22%, 29 had an extracardiac malformation, and 89 had both an extracardiac and a cardiovascular defect. Among fetuses with abnormal development of the arterial/venous system as the only associated anomaly such as aberrant right subclavian artery or absent ductus venosus, 22% had a genetic anomaly. Overall, sixty-five fetuses or infants had a genetic concern, including 23 aneuploidies, 15 pathogenic micro-deletions/duplications, and 5 variants of unknown significance; 12 patients had VACTERL association, and 12 heterotaxy syndrome. Seven infants had an aortic coarctation diagnosed at birth.
In conclusion, a thorough prenatal ultrasound examination is paramount, and the identification of variants of the venous/arterial system in addition to PLSVC should raise suspicion for genetic or morphologic abnormalities. Invasive prenatal diagnosis with array-CGH should be offered when PLSVC is non-isolated, after a detailed ultrasound evaluation in a tertiary center.
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The authors wish to thank Annie Berger, Sophie Brisebois, and Heidi Shapiro for their help in data collection and corrections.
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IB is a recipient of a salary award (chercheur-boursier) from FRQ-S (Quebec’s Health research fund) and is supported by a team grant of the Canadian Institutes for Health Research. These funding bodies have no role in the design, analysis, and interpretation of data. This research was presented orally at the 53rd Annual meeting of the Association for European Paediatric and Congenital Cardiology, 15–18 May 2019, Seville, Spain.
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All authors contributed to the study conception and design. Material preparation, data collection, and analysis were performed by Anne-Frederique Minsart and Marie-Josee Raboisson. The first draft of the manuscript was written by Anne-Frederique Minsart and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.
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Minsart, AF., Boucoiran, I., Delrue, MA. et al. Left Superior Vena Cava in the Fetus: A Rarely Isolated Anomaly. Pediatr Cardiol 41, 230–236 (2020). https://doi.org/10.1007/s00246-019-02246-5
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DOI: https://doi.org/10.1007/s00246-019-02246-5