Vita Zidere

Right aortic arch in the fetus

To examine our experience of the detection of a right aortic arch in the fetus over an 8‐year period.

Fetal echocardiography at 11–13 weeks by transabdominal high-frequency ultrasound

To assess the accuracy of fetal echocardiography at 11–13 weeks performed by well‐trained obstetricians using a high‐frequency linear ultrasound transducer.

Aberrant right subclavian artery at 16 to 23 + 6 weeks of gestation: a marker for chromosomal abnormality

This study was carried out to determine the feasibility of defining the position of the right subclavian artery (RSA) by fetal echocardiography between 16 and 23 weeks of gestation, and the association between an aberrant right subclavian artery (ARSA) and chromosomal and cardiac defects.

Tetralogy of Fallot in the fetus in the current era

To compare the spectrum of tetralogy of Fallot detected recently in fetal life with that in previous reports of prenatal and postnatal experience.

Prenatal diagnosis of left atrial isomerism

Objective: To describe the cardiac anomalies and outcome in the fetus with left atrial isomerism. Methods: All fetuses with a diagnosis of left atrial isomerism between 1998 and 2008 were identified. Gestational age at diagnosis, the nuchal translucency, the karyotype, the cardiac findings and outcome were noted. A literature search from 1990 identified four publications reporting 10 or more cases of fetal left atrial isomerism. The same data, where available, were collected from these papers for comparison. Results: There were 41 fetuses with this diagnosis seen in our centre. All cases had an interrupted inferior vena cava with azygous continuation. Associated cardiac defects were similar in our series and in the 129 cases reported in the literature and are therefore grouped together. They included complete atrioventricular septal defect (68%), complete heart block (38%), viscerocardiac heterotaxy (54%), double outlet right ventricle (23%), right ventricular outflow tract obstruction (35%), left ventricular outflow tract obstruction (21%) and total anomalous pulmonary vein drainage (5%). In our series, there were 22 pregnancy terminations, seven intrauterine deaths, one neonatal death, one infant death and one was lost to follow-up. Of the continuing pregnancies only 50% in our series and 60% in the reported series survived. Conclusion: Left atrial isomerism presents a varied spectrum of cardiac malformations when it is detected prenatally. Complete heart block, complex cardiac abnormalities and fetal hydrops are poor prognostic features. Those with only minor cardiac malformations are at risk postnatally for biliary atresia and for bowel obstruction due to malrotation.

Prevalence of increased nuchal translucency in fetuses with congenital cardiac disease and a normal karyotype.

OBJECTIVES Our aims were to estimate the prevalence of increased nuchal translucency in fetuses with a normal karyotype that were subsequently diagnosed with congenital cardiac disease on fetal echocardiography, and to assess whether there is a link between increased nuchal translucency and specific congenital cardiac malformations. METHODS We reviewed all patients referred to Kings College Hospital and the Evelina Childrens Hospital in London for fetal echocardiography between January 1998 and December 2007. We investigated the proportion of chromosomally normal fetuses with congenitally malformed hearts in which nuchal thickness was increased, both overall and with specific defects. RESULTS We identified 2133 fetuses with congenital cardiac disease by prenatal echocardiography. Of those, 707 were excluded due to abnormal karyotype, and 690 were excluded due to unknown karyotype. The remaining 736 were eligible for inclusion. Among 481 fetuses with documented congenital cardiac disease and normal chromosomes, making up 23% of the overall cohort, 224 had increased nuchal thickness defined as equal or greater than 2.5 millimetres, this being 0.47 of the inclusive cohort, with 95% confidence intervals from 0.42 to 0.51. These proportions were significantly higher than the expected proportion of the normal population, which was 0.05 (p < 0.001). The only diagnosis for which the proportion of fetuses with nuchal translucency measurement equal or greater than 2.5 millimetres was higher than the others was atrioventricular septal defect, with 0.62 of this cohort having abnormal values, with 95% confidence intervals from 0.47 to 0.77 (p = 0.038). CONCLUSION We found that nearly half of prenatally diagnosed fetuses with congenitally malformed hearts, when examined ultrasonically in the first or early-second trimester, had increased nuchal thickness. We recommend, therefore, referral of all fetuses with increased nuchal translucency for fetal echocardiography.

Changing findings in pentalogy of Cantrell in fetal life

Pentalogy of Cantrell is the association of five features: a midline anterior ventral wall defect, a diaphragmatic defect, a cleft distal sternum, a defect of the apical pericardium with communication into the peritoneum, and an intracardiac defect. This is a complex abnormality that requires multiple surgical procedures, but which can be successfully treated postnatally with staged surgery. Three recent cases demonstrated features in prenatal life that were unexpected to us, and which we felt were worthy of description. The diagnosis of the pentalogy of Cantrell was made at 11, 16 and 14 weeks. Two of the three had an increased nuchal translucency measurement. All three fetuses had a major abdominal wall defect with a significant degree of protrusion of the cardiac ventricles outside the chest at the initial scan. At 20 and 26 weeks, the heart was seen to be within the chest with no protrusion, even of the apex. An intracardiac malformation was found prenatally in two of three cases. There were no karyotype anomalies and all three cases survived despite multiple operations. At the time of writing they were aged 2, 5 and 8 years. The ultrasound findings in all three cases showed an evolving pattern during gestation, with a greater degree of protrusion of the heart through the lower sternal defect into the exomphalos in the early scans than was present later. The possibility of an improvement in the findings has some bearing on counseling in early pregnancy in this complex condition. Copyright

A Systematic Three-Dimensional Echocardiographic Approach to Assist Surgical Planning in Double Outlet Right Ventricle

Double outlet right ventricle (RV) describes a range of pathology where both great arteries arise, either entirely or in greater part from the morphologic RV. Accurate prediction of the optimal surgical approach is challenging. Ideally, assuming that the ventricles are balanced with respect to their size, a biventricular repair is normally attempted. The feasibility of the different surgical options for repair depends on morphologic features including the location and size of the ventricular septal defect, and the relationship of the great arteries. Anderson et al. recommend the term interventricular communication, in preference to ventricular septal defect, when describing the defect between the 2 ventricles in double outlet RV. The outlet muscular septum that forms the upper boundary of the true ventricular septal defect in double outlet RV is often sited in a position above the right ventricular cavity. Any closure of the true ventricular septal defect beginning at the crest of the septum would involve crossing into the right ventricular space. The remaining defect between the 2 ventricles is therefore best described as the interventricular communication. The term interventricular communication has been used in the text for the purpose of consistency. The position of this interventricular communication in relation to the great vessels is variable. These are described as being subaortic, subpulmonary, or noncommitted, where the interventricular communication lies remote to either great vessel’s origin. In rare cases, there is fibrous continuity between the 2 arterial valves and the interventricular communication that lies beneath these is described as being doubly committed. Two-dimensional echocardiography has traditionally been used to plan surgical intervention, utilizing multiple separate sonographic views and “sweeps.” Three-dimensional (3D) echocardiography has the advantage of incorporating a depth of field to the sonographic images so that the atrioventricular valves, ventricular septal defect, and great arteries can be visualized within a single sonographic projection, obtained by cropping of a 3D echocardiographic volume. This has the potential to enhance understanding of the relationship of the anatomic structures needed for surgical planning. We describe a systematic 3D echocardiographic approach, which we have adopted to assist decision making for the surgical management of this group of lesions. This approach addresses the anatomic concerns with respect to biventricular repair and whether a RV to pulmonary artery conduit will be required. Biventricular repair options include closure of the interventricular communication with or without an arterial switch procedure. Complex interventricular baffles can necessitate enlargement of the interventricular communication and there may be a need to relieve subpulmonary or subaortic stenosis. Straddling atrioventricular valves may preclude septation and single ventricle palliation is sometimes pursued. The echocardiographic approach is described below using clinical examples. Address for correspondence and reprint requests: John M. Simpson, M.D., F.R.C.P., F.E.S.C., 6th Floor Sky Offices, Evelina Childrens Hospital, Westminster Bridge Road, London SE1 7EH, UK. Fax: +44-207-188-4556; E-mail: john.simpson@gstt.nhs.uk

Prenatally detectable congenital heart defects in fetuses with Down syndrome

To document the incidence of congenital heart defects (CHD) that are detectable echocardiographically in the fetus with trisomy 21 and the relationship with nuchal translucency, fetal sex and ethnicity.

Fetuses with right aortic arch: a multicenter cohort study and meta-analysis.

Use of recent antenatal screening guidelines for cardiac abnormalities has increased fetal diagnoses of right aortic arch (RAA). We aimed to establish the outcome of fetal RAA without intracardiac abnormalities (ICA) to guide postnatal management.