Single left superior vena cava: antenatal diagnosis, associated anomalies and outcomes.

OBJECTIVES: To describe the associated cardiac and extracardiac findings and estimate the prevalence of single left superior vena cava (LSVC) among fetuses referred for fetal echocardiography. METHODS: This was a retrospective case series of fetuses diagnosed with situs solitus and single LSVC at the Brompton Centre for Fetal Cardiology, London, UK, from October 2006 to December 2020. Prenatal and postnatal outcome data were collected. Prenatal diagnosis was based on abnormal vessel alignment at the three-vessel view and/or three-vessel-and-trachea view, showing a vessel to the left of the pulmonary artery (i.e. the LSVC) and absence of the usual vessel to the right of the ascending aorta (i.e. the right superior vena cava), and further visualization of the LSVC draining into the coronary sinus. RESULTS: Of 19 968 fetal echocardiograms performed during the study period, 34 cases of single LSVC were identified (a prevalence of 0.17%). Of these, 32 pregnancies had a live birth, one was lost to follow-up and one resulted in intrauterine demise. Single LSVC was isolated in 79.4% of cases. No major congenital heart disease was identified. One fetus showed mild isthmus hypoplasia, with no aortic coarctation postnatally. Two fetuses had umbilical vessel abnormalities. A genetic abnormality was found in one case (15q24.1-q24.2 deletion). CONCLUSIONS: Antenatal diagnosis of single LSVC in the setting of situs solitus is usually a benign isolated finding. Nevertheless, investigation of other cardiac, extracardiac and genetic disorders should be considered. © 2022 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Prenatal Marfan syndrome: report of one case and review of the literature.

OBJECTIVES: Our objective was to describe the features of prenatal Marfan syndrome. METHODS: Doppler fetal echocardiograms were performed. The morphology and rhythm of the fetal heart were examined sequentially. RESULTS: The case was referred because of cardiomegaly and dilated great vessels. Sequential Doppler echocardiographic evaluation led to the diagnosis of prenatal Marfan syndrome. The main features are cardiomegaly, dysplastic atrioventricular valves with tricuspid regurgitation and dilated great vessels, which can be aneurysmal at their origin. The fetus died in utero at 39 weeks of gestation because of cardiac failure. Pathological study confirmed the Marfan habitus and complications. Molecular genetic study showed a de novo point mutation in exon 26 of the FBN1 gene. CONCLUSION: We report a case of prenatal Marfan syndrome diagnosed by sequential evaluation of the cardiac signs, which are essential for prenatal diagnosis. The prognosis seems as poor as the neonatal one. The prenatal diagnosis is essential for adequate counselling.