Publications by authors named "Julene S Carvalho"

28 Publications

  • Page 1 of 1

Is Cardiomegaly an Indication of "Heart-Sparing Effect" in Small Fetuses?

Fetal Diagn Ther 2021 Oct 15:1-7. Epub 2021 Oct 15.

Fetal Medicine Unit, St. George's University Hospitals NHS Foundation Trust, London, United Kingdom.

Introduction: This study aimed to test the hypothesis that cardiac size is maintained in small fetuses presenting with cardiomegaly.

Materials And Methods: We identified singleton fetuses with estimated fetal weight <10th centile and with cardiomegaly without another more likely cardiac or extra-cardiac cause. We used Z-scores for cardiac and thoracic circumferences normalized for gestational age (GA), biparietal diameter (BPD), head circumference (HC), and femur length (FL), obtained from 188 normally grown fetuses.

Results: When comparing chest size, small fetuses had significantly lower thoracic circumferences median Z-scores (IQR) for GA = -4.82 (-6.15 to -3.51), BPD = -2.42 (-4.04 to -1.48), HC = -2.72 (-4.53 to -1.90), and FL = -1.60 (-2.87 to -0.71); p < 0.001 for all. When comparing heart size, small fetuses showed lower cardiac circumferences median Z-scores (IQR) for GA = -1.59 (-2.79 to -0.16); p < 0.001, similar cardiac circumferences Z-scores for BPD = 0.29 (-0.65 to 1.28); p = 0.284 and HC = 0.11 (-1.13 to 0.96); p = 0.953, and higher cardiac circumferences Z-scores for FL = 0.94 (-0.05 to 2.13); p < 0.001.

Conclusions: Our results show that in small fetuses with cardiomegaly, the heart maintains normal dimensions when normalized to cranial diameters and higher dimensions when normalized to long bones. This provides insight into cardiac adaptation to adverse intrauterine environment.
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http://dx.doi.org/10.1159/000519059DOI Listing
October 2021

Impact of gastrointestinal comorbidities in patients with right and left atrial isomerism.

Cardiol Young 2021 Sep 2:1-8. Epub 2021 Sep 2.

Brompton Centre for Fetal Cardiology, Royal Brompton & Harefield NHS Foundation Trust, Royal Brompton Hospital, LondonSW3 6NP, UK.

Background And Aim: Heterotaxy syndrome, being right atrial isomerism (RAI) or left atrial isomerism (LAI), often presents with Congenital Heart Disease (CHD). Intestinal abnormalities, including malrotation are common. We assessed the spectrum of gut abnormalities and their impact on medium-term outcome in a cohort of patients with fetal and postnatal diagnoses of heterotaxy syndrome.

Methods: We reviewed the cardiology records of heterotaxy syndrome patients from two centres, regarding the presence of CHD, time for cardiac intervention, presence of gastrointestinal abnormalities, and type/time of surgery. A questionnaire about gastrointestinal status was sent to patients <18 years old. Kaplan-Meier curves were derived for survival data and freedom from intervention.

Results: Data were included for 182 patients (49 RAI and 133 LAI) of 247 identified. Questionnaires were sent to 77 families and 47 replied. CHD was present in all RAI and 61.7% of LAI cases. Thirty-eight patients had abdominal surgery (20.9%), similar for RAI and LAI (20.4% versus 21%, p> 0.99): Ladd procedure in 17 (44.7%), non-Ladd in 12 (31.5%), and both procedures in 9 (23.7%). Ten-year freedom from Ladd procedure for all was 86% for the whole cohort (RAI = 87%; LAI = 85%, p = 0.98). Freedom from any gastrointestinal surgery at 10 years was 79% for the whole cohort (RAI = 77%; LAI = 80%, p = 0.54). Ten-year freedom from cardiac surgery was 31% for the whole cohort (RAI = 6%; LAI = 43%, p < 0.0001).

Conclusions: In our cohort, one in five patients required abdominal surgery, mostly in their first year of life, similar for RAI and LAI. Between 1 and 10 years of follow-up, the impact of gastrointestinal abnormalities on outcome was minimal. Medium term survival was related to CHD.
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http://dx.doi.org/10.1017/S1047951121003620DOI Listing
September 2021

In-hospital interstage improves interstage survival after the Norwood stage 1 operation.

Eur J Cardiothorac Surg 2020 06;57(6):1113-1121

Department of Paediatric Intensive Care, Royal Brompton Hospital, Imperial College, London, UK.

Objectives: The interstage mortality rate after a Norwood stage 1 operation remains 12-20% in current series. In-hospital interstage facilitates escalation of care, possibly improving outcome.

Methods: A retrospective study was designed for hypoplastic left heart syndrome (HLHS) and HLHS variants, offering an in-hospital stay after the Norwood operation until the completion of stage 2. Daily and weekly examinations were conducted systematically, including two-dimensional and speckle-tracking echocardiography. Primary end points included aggregate survival until the completion of stage 2 and interstage freedom from escalation of care. Moreover, we calculated the sensitivity and specificity of speckle-tracking echocardiographic myocardial deformation in predicting death/transplant after the Norwood procedure.

Results: Between 2015 and 2019, 33 neonates with HLHS (24) or HLHS variants (9) underwent Norwood stage 1 (31) or hybrid palliation followed by a comprehensive stage 2 operation (2). Stage 1 Norwood-Sano was preferred in 18 (54.5%) neonates; the classic Norwood with Blalock-Taussig shunt was performed in 13 (39.4%) neonates. The Norwood stage 1 30-day mortality rate was 6.2%. The in-hospital interstage strategy was implemented after Norwood stage 1 with a 3.4% interstage mortality rate. The aggregate Norwood stage 1 and interstage Kaplan-Meier survival rate was 90.6 ± 5.2%. Escalation of care was necessary for 5 (17.2%) patients at 2.5 ± 1.2 months during the interstage for compromising atrial arrhythmias (2), Sano-shunt stenosis (1) and pneumonia requiring a high-frequency oscillator (2); there were no deaths. A bidirectional Glenn (25) or a comprehensive-Norwood stage 2 (2) was completed in 27 patients at 4.7 ± 1.2 months with a 92.6% survival rate. The overall Kaplan-Meier survival rate is 80.9 ± 7.0% at 4.3 years (mean 25.3 ± 15.7 months). An 8.7% Δ longitudinal strain 30 days after Norwood stage 1 had 100% sensitivity and 81% specificity for death/transplant.

Conclusions: In-hospital interstage facilitates escalation of care, which seems efficacious in reducing interstage Norwood deaths. A significant reduction of longitudinal strain after Norwood stage 1 is a strong predictor of poor outcome.
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http://dx.doi.org/10.1093/ejcts/ezaa074DOI Listing
June 2020

Evidence for uteroplacental malperfusion in fetuses with major congenital heart defects.

PLoS One 2020 5;15(2):e0226741. Epub 2020 Feb 5.

Fetal Medicine Unit, St George's University Hospitals NHS Foundation Trust and Molecular & Clinical Sciences Research Institute, St George's University of London, London, England, United Kingdom.

Aims: Fetuses affected by congenital heart defects (CHD) are considered to be at increased risk of fetal growth restriction and intrauterine demise. Whether these risks are a direct consequence of fetal CHD or a result of associated uteroplacental dysfunction is not evident from the data of recent studies. The aim of this study was to investigate the prevalence of uteroplacental dysfunction reflected by abnormal uterine artery Doppler indices and reduced fetal growth in CHD pregnancies.

Methods: This is a retrospective case-control study including singleton pregnancies referred for detailed fetal cardiac assessment subsequently diagnosed with or without CHD. Mid-trimester uterine artery Doppler assessment at 20-24 weeks as well as third trimester fetal biometry and arterial Doppler pulsatility indices (PI) were performed. All fetal biometry were converted into centiles and Doppler values to multiples of median (MoM) to adjust for physiological changes with gestation.

Results: The study included 811 pregnancies including 153 cases where the fetus was diagnosed with CHD. Mid-pregnancy uterine artery PI was significantly higher in women with fetal CHD compared to controls (0.90MoM vs 0.83MoM; p = 0.006). In the third trimester, median centiles for fetal head circumference (45.4 vs 57.07; p<0.001), abdominal circumference (51.17 vs 55.71; p = 0.014), estimated fetal weight (33.6 vs 56.7; p<0.001) and cerebroplacental ratio (CPR: 0.84MoM vs 0.95MoM; p<0.001) were significantly lower in fetuses with CHD compared to controls. The percentage of small for gestational age births <10th centile (24.0% vs 10.7%; <0.001) and low CPR <0.6MoM (11.7% vs 2.5%; p<0.001) were significantly higher in the fetal CHD cohort.

Conclusions: Mid-pregnancy uterine artery resistance is increased and subsequent fetal biometry reduced in pregnancies with CHD fetuses. These findings suggest that fetal CHD are associated with uteroplacental dysfunction, secondary to impaired maternal uteroplacental perfusion resulting in relative fetal hypoxaemia and reduced fetal growth.
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0226741PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7001956PMC
April 2020

Intervendor Discordance of Fetal and Neonatal Myocardial Tissue Doppler and Speckle-Tracking Measurements.

J Am Soc Echocardiogr 2019 10 24;32(10):1339-1349.e23. Epub 2019 Jul 24.

Molecular and Clinical Sciences Research Institute, St. George's University of London, London, United Kingdom; Fetal Medicine Unit, St. George's University of London, London, United Kingdom.

Background: Fetal and neonatal studies report a wide range of cardiac parameters derived by pulsed-wave Doppler tissue imaging (DTI) and two-dimensional speckle-tracking echocardiographic (STE) imaging. The use of different ultrasound systems and their vendor-specific software compromises the ability to compare echocardiographic findings among various studies. The aim of this study was to evaluate intervendor reproducibility as well as intra- and interobserver repeatability of DTI and STE measurements in normal-term fetuses and neonates.

Methods: A prospective study was conducted of term fetuses (n = 196) from uncomplicated pregnancies assessed days before the onset of labor and a few hours after birth. Fetal and neonatal DTI and STE parameters were obtained and analyzed using vendor-specific software on three ultrasound systems: Toshiba Aplio MX versus GE Vivid E9 and GE Vivid E9 versus Philips EPIQ. A reproducibility study in fetuses and neonates (n = 118) was performed by systematic scanning with head-to-head comparison.

Results: DTI reproducibility showed moderate to good correlation, with good agreement for fetuses and neonates on Toshiba versus GE (intraclass correlation coefficient [ICC] = 0.4-0.8). Correlation of DTI measurements on GE versus Philips was poor to moderate for fetuses (ICC = 0.1-0.6) and moderate to good for neonates (ICC = 0.5-0.8), with wider limits of agreement. Fetal and neonatal STE parameters revealed very poor correlation (ICC = 0.1-0.3) and agreement among ultrasound vendors. Intra- and interobserver repeatability demonstrated good to excellent correlation of all fetal and neonatal DTI and STE measurements, with good agreement irrespective of the ultrasound platform used.

Conclusions: These findings demonstrate reliable assessment of fetal and neonatal DTI and STE measurements when performed on the same ultrasound platform, whereas ultrasound machines and software from different vendors give significantly divergent estimates of DTI and STE parameters in fetuses and neonates. These intervendor discrepancies have significant clinical and research implications and should be considered when interpreting and comparing study findings, establishing reference standards, or performing systematic reviews.
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http://dx.doi.org/10.1016/j.echo.2019.05.023DOI Listing
October 2019

Fetal dysrhythmias.

Best Pract Res Clin Obstet Gynaecol 2019 Jul 9;58:28-41. Epub 2019 Jan 9.

Royal Brompton and Harefield NHS Foundation Trust, Sydney Street, London, SW3 6NP, UK; Fetal Medicine Unit, St George's University Hospital, Blackshaw Road, London, SW17 0QT, UK; Molecular and Clinical Sciences Research Institute, St George's, University of London, Cranmer Terrace, London, SW17 0RE, UK. Electronic address:

Fetal dysrhythmias are common abnormalities, usually manifesting as irregular rhythms. Although most irregularities are benign and caused by isolated atrial ectopics, in a few cases, rhythm irregularity may indicate partial atrioventricular block, which has different etiological and prognostic implications. We provide a flowchart for the initial management of irregular rhythm to help select cases requiring urgent specialist referral. Tachycardias and bradycardias are less frequent, can lead to hemodynamic compromise, and may require in utero therapy. Pharmacological treatment of tachycardia depends on the type (supraventricular tachycardia or atrial flutter) and presence of hydrops, with digoxin, flecainide, and sotalol being commonly used. An ongoing randomized trial may best inform about their efficacy. Bradycardia due to blocked bigeminy normally resolves spontaneously, but if it is due to established complete heart block, there is no effective treatment. Ongoing research suggests hydroxychloroquine may reduce the risk of autoimmune atrioventricular block. Sinus bradycardia (rate <3rd centile) may be a prenatal marker for long-QT syndrome.
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http://dx.doi.org/10.1016/j.bpobgyn.2019.01.002DOI Listing
July 2019

Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia.

Thorax 2019 02 30;74(2):203-205. Epub 2018 Aug 30.

PCD Diagnostic Team, Department of Paediatric Respiratory Medicine, Royal Brompton and Harefield NHS Trust, London, UK.

Primary ciliary dyskinesia (PCD) is associated with abnormal organ positioning (situs) and congenital heart disease (CHD). This study investigated genotype-phenotype associations in PCD to facilitate risk predictions for cardiac and laterality defects. This retrospective cohort study of 389 UK patients with PCD found 51% had abnormal situs and 25% had CHD and/or laterality defects other than situs inversus totalis. Patients with biallelic mutations in a subset of nine PCD genes had normal situs. Patients with consanguineous parents had higher odds of situs abnormalities than patients with non-consanguineous parents. Patients with abnormal situs had higher odds of CHD and/or laterality defects.
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http://dx.doi.org/10.1136/thoraxjnl-2018-212104DOI Listing
February 2019

Perinatal Changes in Fetal Ventricular Geometry, Myocardial Performance, and Cardiac Function in Normal Term Pregnancies.

J Am Soc Echocardiogr 2017 May 9;30(5):485-492.e5. Epub 2017 Mar 9.

Molecular and Clinical Sciences Research Institute, St George's University of London, London, United Kingdom; Fetal Medicine Unit, St. George's University Hospitals NHS Foundation Trust, London, United Kingdom; Brompton Centre for Fetal Cardiology, Royal Brompton Hospital, London, United Kingdom.

Background: The fetal heart at term is exposed to an increase in hemodynamic work as a consequence of fetal growth, increased circulating volume, and alteration in loading patterns due to maturational changes in fetoplacental circulation. The extent to which these cardiovascular changes influence human fetal and neonatal cardiac adaptation has not been fully elucidated. The aim of this study was to evaluate perinatal cardiovascular changes in ventricular geometry and myocardial performance in normal term fetuses.

Methods: Prospective study of 108 uncomplicated pregnancies delivering at term. M-mode, two-dimensional or B-mode, pulsed wave Doppler, pulsed wave tissue Doppler, and two-dimensional speckle-tracking imaging were performed a few days before and within 24 hours of birth.

Results: Analysis of paired fetal and neonatal echoes demonstrated significant perinatal changes (P < .0001 for all) in right ventricular (RV) and left ventricular (LV) geometry (RV/LV end-diastolic dimension ratio, 1.2 vs 0.8; RV sphericity index, 0.53 vs 0.40; LV sphericity index, 0.46 vs 0.49). There were corresponding significant (P < .001 for all) perinatal changes in global myocardial performance: LV myocardial performance index, 0.60 versus 0.47; RV myocardial performance index, 0.61 versus 0.42; systolic function: LV longitudinal systolic strain rate, -1.4/sec versus -1.0/sec; RV longitudinal systolic strain rate, -1.5/sec versus -1.0/sec; RV S', 5.3 cm/sec versus 6.5 cm/sec; and diastolic function: LV E'/A', 0.8 versus 1.1.

Conclusions: The findings support the concept that the perinatal period is associated with major changes in fetal ventricular geometry and cardiac function in response to significant alterations in loading conditions. Improved knowledge of perinatal cardiac changes in normal fetuses could facilitate better understanding of cardiac adaptation in normal and pathological pregnancies.
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http://dx.doi.org/10.1016/j.echo.2017.01.011DOI Listing
May 2017

The association between prenatal atrioventricular septal defects and chromosomal abnormalities.

Eur J Obstet Gynecol Reprod Biol 2017 Jan 29;208:31-35. Epub 2016 Oct 29.

Fetal Medicine Unit, Academic Department of Obstetrics and Gynaecology, St George's University of London, London, United Kingdom; Royal Brompton Hospital, London, United Kingdom.

Objective: Atrioventricular septal defect is associated with a high risk of a chromosomal abnormality, particularly trisomy 21. The aim of this study is to assess the rate of trisomy 21 in fetuses diagnosed with an atrioventricular septal defect and to examine the influence of prior screening on the rate of trisomy 21.

Methods: Electronic ultrasound database was searched to identify fetuses diagnoses with an atrioventricular septal defect from 2002 to 2014. Rate of trisomy 21 and other aneuploidies was calculated among fetuses with normal situs. The prevalence of trisomy 21 and other aneuploidies was assessed in women with low and high first trimester risk for trisomy 21, using a cut-off value of 1:150 and 1:250.

Results: A total 110 fetuses with a diagnosis of atrioventricular septal defect were identified. Among the 98 fetuses with normal situs, the prevalence of trisomy 21 was 46% (95% CI: 36-56%). Using a 1:150 threshold, the rate of trisomy 21 within the low-risk group was 41% (95% CI: 27-57%) while in the high-risk group it was 70% (95% CI: 52-83%), significantly higher than in the low risk group (p=0.028). Similar results were obtained when the 1:250 threshold was applied (66% versus 41%, p=0.055).

Conclusions: The rate of trisomy 21 among fetuses identified with an atrioventricular septal defect in the second trimester is high even in those that undergo first trimester combined screening. Some fetuses with a high-risk screening result show a normal karyotype. Therefore, an offer of an invasive procedure to check fetal karyotyping is indicated. Knowledge of these rates may be helpful for parents in the decision making process.
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http://dx.doi.org/10.1016/j.ejogrb.2016.10.039DOI Listing
January 2017

Screening and Treatment of Intestinal Rotational Abnormalities in Heterotaxy: A Systematic Review and Meta-Analysis.

J Pediatr 2016 Apr 8;171:153-62.e1-3. Epub 2016 Feb 8.

Department of Pediatric and Neonatal Surgery, St. George's University Hospitals National Health Service Foundation Trust, London, United Kingdom. Electronic address:

Objective: To assess the role of screening and prophylactic surgery for intestinal rotational abnormalities (IRAs) in asymptomatic patients with heterotaxy.

Study Design: PubMed, Embase, and Cinahl were searched electronically to determine the overall incidence of IRAs in heterotaxy; the detection rate of IRAs associated with screening; the incidence of midgut volvulus in patients without screening; and the incidence of morbidity and mortality after prophylactic and emergency Ladd procedures. Relevant data were computed with a meta-analysis of proportions. Between-study heterogeneity was assessed with the I(2) statistic.

Results: From 276 papers identified, 24 studies with a total of 1433 patients with heterotaxy were included for systematic review. No randomized study was identified. True incidence of IRA in heterotaxy could not be ascertained through meta-analysis. In patients who underwent screening, the incidence of IRA was 58%. Acute midgut volvulus occurred in 5.8% of those who did not undergo screening. Postoperative mortality after Ladd procedure mainly was associated with cardiac insufficiency, and overall it was significantly greater in the emergency group compared with the prophylactic group (18% vs 5.6%). The complication rate also was greater in case of emergency vs prophylactic abdominal surgery (27% vs 16%); adhesional small bowel obstruction was the most common complication overall (6%).

Conclusion: The screen-detected incidences of IRA and acute midgut volvulus were significantly greater in heterotaxy than the normal population. Prophylactic Ladd procedure was associated with less morbidity and mortality compared with emergency surgery. A long-term prospective randomized trial is needed to define the indication for screening and prophylactic treatment of IRA in heterotaxy.
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http://dx.doi.org/10.1016/j.jpeds.2015.12.074DOI Listing
April 2016

Antenatal diagnosis of critical congenital heart disease. Optimal place of delivery is where appropriate care can be delivered.

Arch Dis Child 2016 06 27;101(6):505-507. Epub 2016 Jan 27.

Brompton Centre for Fetal Cardiology, Royal Brompton Hospital NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1136/archdischild-2015-308736DOI Listing
June 2016

Variants of the scimitar syndrome.

Cardiol Young 2016 Jun 16;26(5):941-7. Epub 2015 Sep 16.

1Division of Paediatric Cardiology,Royal Brompton Hospital,London,United Kingdom.

Unlabelled: Introduction The scimitar syndrome comprises hypoplastic right pulmonary artery and lung, anomalous right pulmonary venous drainage to the inferior caval vein, aortopulmonary collateral(s) to the right lung, and bronchial anomalies. Aim The aim of this study was to describe the morphological and clinical spectrum of variants from the classical scimitar syndrome in a single institution over 22 years.

Results: In total, 10 patients were recognised. The most consistent feature was an aortopulmonary collateral to the affected lung (90%), but there was considerable variation in the site and course of pulmonary venous drainage. This was normal in 3 (one with meandering course), anomalous right to superior caval vein in 1, to the superior caval vein and inferior caval vein in 2, and to the superior caval vein and the left atrium in 1; one patient had a right pulmonary (scimitar) vein occluded at the insertion into the inferior caval vein but connected to the right upper pulmonary vein via a fistula. There were two left-sided variants, one with anomalous left drainage to the coronary sinus and a second to the innominate vein. Among all, three patients had an antenatal diagnosis and seven presented between 11 and 312 months of age; 90% of the patients were symptomatic at first assessment. All the patients underwent cardiac catheterisation; collateral embolisation was performed in 50% of the patients. Surgical repair of the anomalous vein was carried out in two patients, one patient had a right pneumonectomy, and one patient was lost to follow-up. There was no mortality reported in the remainder of patients during the study period.

Conclusion: The heterogeneity of this small series confirms the consistent occurrence of an anomalous arterial supply to the affected lung but considerable variation in pulmonary venous drainage.
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http://dx.doi.org/10.1017/S1047951115001651DOI Listing
June 2016

Interrupted inferior vena cava in fetuses with omphalocele. Case series of fetuses referred for fetal echocardiography and review of the literature.

Early Hum Dev 2015 Jan 22;91(1):1-6. Epub 2014 Nov 22.

Fetal Medicine Unit, St George's Hospital NHS Trust, London, UK; Brompton Centre for Fetal Cardiology, Royal Brompton Hospital NHS Foundation Trust, London, UK; St George's University of London, UK. Electronic address:

Objectives: Congenital heart disease is reported in 15-45% of omphalocele cases. Associated abnormalities of systemic veins have occasionally been reported in children and rarely documented in the fetus. We report a case series of interrupted inferior vena cava (Int-IVC) in association with omphalocele and review the literature.

Methods: From our fetal database we identified all cases of omphalocele referred for fetal echocardiography (FE) between 1997 and 2012. We reviewed pre and postnatal medical records and performed a literature search from 1975 to present to identify previous relevant publications.

Results: Of 9627 fetuses referred for FE, 34 had an omphalocele. Gestational age at FE was 17(+6) to 26(+4)weeks. Seven of the 34 fetuses were shown to have an Int-IVC with azygos continuation to a right-sided superior vena cava (SVC). The heart was structurally normal in all but one case. The abdominal wall defect was large and contained liver in all. There were three fetal demises and one neonatal death. Three cases were operated successfully. Since 1975, we identified 12 publications reporting omphalocele with systemic venous abnormalities. Abnormal IVC angulation may lead to surgical complications. Failure of IVC formation is likely to be a developmental rather than a situs abnormality. Int-IVC with a dilated azygos influences venous access and may predispose to venous thrombosis.

Conclusion: We have documented an association between large omphalocele and Int-IVC with azygos continuation to the SVC. In this small series, this did not have surgical implications. It will however, influence route of any future cardiac catheterisation and may have long-term implications.
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http://dx.doi.org/10.1016/j.earlhumdev.2014.11.001DOI Listing
January 2015

Fetal diagnosis of left ventricular tumour with pericardial extension persisting into childhood.

Arch Dis Child Fetal Neonatal Ed 2013 Jul 9;98(4):F355. Epub 2012 Jun 9.

Royal Brompton Hospital, Sydney Street, London, UK.

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http://dx.doi.org/10.1136/fetalneonatal-2012-301842DOI Listing
July 2013

Early fetal echocardiography and anomaly scan in fetuses with increased nuchal translucency.

Early Hum Dev 2012 May 28;88(5):269-72. Epub 2012 Mar 28.

Fetal Medicine Unit, St. George's Hospital NHS Trust, Blackshaw Road, London SW17 0QT, United Kingdom.

Nuchal translucency (NT) identified at the time of the 11-14 week scan has been established as one of the best tools for screening for Down syndrome. It has also proven to be of value in screening for other conditions such as cardiac defects and extra-cardiac structural abnormalities. In this article, we present data from our fetal medicine unit that highlight the importance of using NT measurement as a stratifying tool when referring for early scans. We propose that, whenever possible, in selected cases with increased NT, provision should be made for additional early scans at 14-18 weeks of gestation with a view to providing information on fetal structural integrity well ahead of the routine scheduled appointments. Early scans should incorporate detailed assessment of the fetal cardiac as well as extra-cardiac anatomy to diagnose or rule out major structural defects. This strategy will provide reassurance to a large number of prospective parents.
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http://dx.doi.org/10.1016/j.earlhumdev.2012.02.008DOI Listing
May 2012

Best practice guidelines: fetal cardiology.

Early Hum Dev 2012 May 22;88(5):259-60. Epub 2012 Mar 22.

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http://dx.doi.org/10.1016/j.earlhumdev.2012.02.010DOI Listing
May 2012

Isolated atrioventricular block in the fetus: a retrospective, multinational, multicenter study of 175 patients.

Circulation 2011 Nov 10;124(18):1919-26. Epub 2011 Oct 10.

Pediatric Cardiology Q1:03, Astrid Lindgren Children's Hospital, Karolinska University Hospital, Stockholm, Sweden.

Background: Isolated complete atrioventricular block in the fetus is a rare but potentially lethal condition in which the effect of steroid treatment on outcome is unclear. The objective of this work was to study risk factors associated with death and the influence of steroid treatment on outcome.

Methods And Results: We studied 175 fetuses diagnosed with second- or third-degree atrioventricular block (2000-2007) retrospectively in a multinational, multicenter setting. In 80% of 162 pregnancies with documented antibody status, atrioventricular block was associated with maternal anti-Ro/SSA antibodies. Sixty-seven cases (38%) were treated with fluorinated corticosteroids for a median of 10 weeks (1-21 weeks). Ninety-one percent were alive at birth, and survival in the neonatal period was 93%, similar in steroid-treated and untreated fetuses, regardless of degree of block and/or presence of anti-Ro/SSA. Variables associated with death were gestational age < 20 weeks, ventricular rate ≤ 50 bpm, fetal hydrops, and impaired left ventricular function at diagnosis. The presence of ≥ 1 of these variables was associated with a 10-fold increase in mortality before birth and a 6-fold increase in the neonatal period independently of treatment. Except for a lower gestational age at diagnosis in treated than untreated (23.4 ± 2.9 versus 24.9 ± 4.9 weeks; P=0.02), risk factors were distributed equally between treatment groups. Two-thirds of survivors had a pacemaker by 1 year of age; 8 children developed cardiomyopathy.

Conclusions: Risk factors associated with a poor outcome were gestation < 20 weeks, ventricular rate ≤ 50 bpm, hydrops, and impaired left ventricular function. No significant effect of treatment with fluorinated corticosteroids was seen.
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http://dx.doi.org/10.1161/CIRCULATIONAHA.111.041970DOI Listing
November 2011

Comparison of transplacental treatment of fetal supraventricular tachyarrhythmias with digoxin, flecainide, and sotalol: results of a nonrandomized multicenter study.

Circulation 2011 Oct 19;124(16):1747-54. Epub 2011 Sep 19.

Labatt Family Heart Center, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.

Background: Fetal tachyarrhythmia may result in low cardiac output and death. Consequently, antiarrhythmic treatment is offered in most affected pregnancies. We compared 3 drugs commonly used to control supraventricular tachycardia (SVT) and atrial flutter (AF).

Methods And Results: We reviewed 159 consecutive referrals with fetal SVT (n=114) and AF (n=45). Of these, 75 fetuses with SVT and 36 with AF were treated nonrandomly with transplacental flecainide (n=35), sotalol (n=52), or digoxin (n=24) as a first-line agent. Prenatal treatment failure was associated with an incessant versus intermittent arrhythmia pattern (n=85; hazard ratio [HR]=3.1; P<0.001) and, for SVT, with fetal hydrops (n=28; HR=1.8; P=0.04). Atrial flutter had a lower rate of conversion to sinus rhythm before delivery than SVT (HR=2.0; P=0.005). Cardioversion at 5 and 10 days occurred in 50% and 63% of treated SVT cases, respectively, but in only 25% and 41% of treated AF cases. Sotalol was associated with higher rates of prenatal AF termination than digoxin (HR=5.4; P=0.05) or flecainide (HR=7.4; P=0.03). If incessant AF/SVT persisted to day 5 (n=45), median ventricular rates declined more with flecainide (-22%) and digoxin (-13%) than with sotalol (-5%; P<0.001). Flecainide (HR=2.1; P=0.02) and digoxin (HR=2.9; P=0.01) were also associated with a higher rate of conversion of fetal SVT to a normal rhythm over time. No serious drug-related adverse events were observed, but arrhythmia-related mortality was 5%.

Conclusion: Flecainide and digoxin were superior to sotalol in converting SVT to a normal rhythm and in slowing both AF and SVT to better-tolerated ventricular rates and therefore might be considered first to treat significant fetal tachyarrhythmia.
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http://dx.doi.org/10.1161/CIRCULATIONAHA.111.026120DOI Listing
October 2011

Prenatal identification of the pulmonary arterial supply in tetralogy of Fallot with pulmonary atresia.

Cardiol Young 2009 Apr 19;19(2):185-91. Epub 2009 Feb 19.

Brompton Fetal and Paediatric Cardiology, Royal Brompton Hospital, London, UK.

Objective: To define the patterns of flow of blood to the lungs in fetuses with tetralogy of Fallot and pulmonary atresia.

Background: In this condition, supply of blood to the lungs is provided via an arterial duct or systemic-to-pulmonary collateral arteries, or very rarely through other conduits such as coronary arterial fistulas or an aortopulmonary window. The intrapericardial pulmonary arteries vary in size, and may be absent. These variables influence the prognosis and management.

Methods: We carried out a retrospective review of cases from a tertiary service for fetal cardiology, identifying all cases of tetralogy of Fallot with pulmonary atresia diagnosed antenatally between January, 1997, and April, 2006. We established pre- and postnatal outcomes, and compared the prenatal diagnosis with postnatal or autopsy findings.

Results: Of 6587 fetuses scanned during this period, 11 were diagnosed as having tetralogy of Fallot with pulmonary atresia and no other cardiac defect. In 5, arterial flow to the lungs was via an arterial duct, and in the other 6, the main identified source of flow was systemic-to-pulmonary collateral arteries. Of the latter 6 pregnancies, 4 were terminated, along with 3 of the 5 with ductal supply. The presence of systemic-to-pulmonary collateral arteries was confirmed at postmortem examination in 3 instances, and in the two delivered neonates, in neither of whom was an infusion of prostaglandin commenced.

Conclusion: The patterns of pulmonary flow can be identified prenatally in the setting of tetralogy with pulmonary atresia. Supply through systemic-to-pulmonary collateral arteries impacts on counselling, introducing uncertainty regarding postnatal surgical management.
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http://dx.doi.org/10.1017/S104795110900362XDOI Listing
April 2009

Morphologic and functional predictors of eventual circulation in the fetus with pulmonary atresia or critical pulmonary stenosis with intact septum.

J Am Coll Cardiol 2008 Apr;51(13):1299-308

Institute of Reproductive and Developmental Biology, Faculty of Medicine, Imperial College at Queen Charlotte's and Chelsea Hospital, London, United Kingdom.

Objectives: The purpose of this study was to determine the morphologic and physiological predictors of post-natal surgical pathway in a longitudinal series of fetuses with pulmonary atresia with intact ventricular septum (PAIVS) and/or critical pulmonary stenosis with reversal of ductal flow (CPS) using statistical modeling.

Background: Pulmonary atresia with intact ventricular septum is rarely associated with chromosomal or extra cardiac malformations, so decisions about continuing a pregnancy are strongly influenced by the prediction of univentricular (UV) or biventricular (BV) circulation.

Methods: Predictive scores were derived, using a combination of z-scores of fetal cardiac measurements (for femoral length) and tricuspid/mitral valve (TV/MV) ratios, to facilitate early prediction of UV or BV circulation in 21 fetuses with PAIVS (18 fetuses) or CPS (3 fetuses) between 1998 and 2004. We also assessed the predictive value of coronary fistulae and right atrial pressure (RAP) score (comprising the tricuspid valve, foramen ovale, and ductus venosus Doppler).

Results: One-half of the cohort was first assessed before 23 gestational weeks (range 15.7 to 33.7 weeks). The TV z-score was a good predictor at all gestations, but the best predictive scores for specific gestations were pulmonary valve (PV) z-score (<23 weeks), median TV z-score (<26 weeks), the combination of median PV z-score and the median TV/MV ratio (26 to 31 weeks), and the combination of median TV z-score and median TV/MV ratio (>31 weeks). The RAP score and coronary fistulae were good independent predictors: RAP score >3 predicted BV with area under the curve of 0.833, and detection of fistulae usually predicted a UV route.

Conclusions: The best predictive scores for post-natal outcome in fetal PAIVS/CPS are a combination of morphologic and physiological variables, which predict a BV circulation with a sensitivity of 92% and specificity of 100% before 26 weeks.
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http://dx.doi.org/10.1016/j.jacc.2007.08.073DOI Listing
April 2008

Recurrent intrauterine fetal loss due to near absence of HERG: clinical and functional characterization of a homozygous nonsense HERG Q1070X mutation.

Heart Rhythm 2008 Apr 29;5(4):553-61. Epub 2008 Jan 29.

Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

Background: Inherited arrhythmias may underlie intrauterine and neonatal arrhythmias. Resolving the molecular genetic nature of these rare cases provides significant insight into the role of the affected proteins in arrhythmogenesis and (extra-) cardiac development.

Objective: The purpose of this study was to perform clinical, molecular, and functional studies of a consanguineous Arabian family with repeated early miscarriages and two intrauterine fetal losses in the early part of the third trimester of pregnancy due to persistent arrhythmias.

Methods: In-depth clinical investigation was performed in two siblings, both of whom developed severe arrhythmia during the second trimester of pregnancy. Homozygosity mapping with microsatellite repeat polymorphic markers encompassing various cardiac ion channel genes linked to electrical instability of the heart was performed. Screening of the candidate gene in the homozygous locus was performed. Biochemical and electrophysiologic analysis was performed to elucidate the function of the mutated gene.

Results: Screening of the HERG gene in the homozygous locus detected a homozygous nonsense mutation Q1070X in the HERG C-terminus in affected children. Biochemical and functional analysis of the Q1070X mutant showed that although the mutant HERG had the ability to traffic to the plasma membrane and to form functional channels, it was destroyed by the nonsense-mediated decay (NMD) pathway before its translation. NMD leads to near absence of HERG in homozygous Q1070X mutation carriers, causing debilitating arrhythmias (prior to birth) in homozygous carriers but no apparent phenotype in heterozygous carriers.

Conclusion: Homozygous HERG Q1070X is equivalent to near functional knockout of HERG. Clinical consequences appear early, originating during the early stages of embryonic life. The NMD pathway renders HERG Q1070X functionless before it can form a functional ion channel.
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http://dx.doi.org/10.1016/j.hrthm.2008.01.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2682734PMC
April 2008

Fetal dysrhythmias.

Best Pract Res Clin Obstet Gynaecol 2008 Feb;22(1):31-48

Brompton Fetal Cardiology, Royal Brompton Hospital and Fetal Medicine Unit, St George's Hospital, London, United Kingdom.

Fetal cardiac dysrhythmias are potentially life-threatening conditions. However, intermittent extrasystoles, which are frequently encountered in clinical practice, do not require treatment. Sustained forms of brady- and tachyarrhythmias might require fetal intervention. Fetal echocardiography is essential not only to establish the diagnosis but also to monitor fetal response to therapy. In the last decade, improvements in ultrasound methodology and new diagnostic tools have contributed to better diagnostic accuracy and to a greater understanding of the electrophysiological mechanisms involved in fetal cardiac dysrhythmias. The most common form of supraventricular tachycardia - that caused by an atrioventricular re-entry circuit - should be differentiated from other forms of tachyarrhythmias, such as atrial flutter and atrial ectopic tachycardia. Ventricular tachycardia is rare in the fetus. Sustained tachycardias, intermittent or not, might be associated with the development of congestive heart failure and hydrops fetalis. Prompt treatment with either anti-arrhythmic drugs or delivery must be considered. Persistent fetal bradycardias associated with complete heart block are also potentially dangerous, whereas bradyarrhythmia due to blocked ectopy is well tolerated in pregnancy. Heart block can be associated with maternal anti-Ro/La autoantibodies or develop in fetuses with left atrial isomerism or with malformations involving the atrioventricular junction. The treatment of fetuses with immune-mediated heart block remains debatable. The use of antenatal steroid therapy is not widely accepted and there is concern over the risks and benefits of its use in the fetus. Direct fetal cardiac pacing has rarely been attempted.
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http://dx.doi.org/10.1016/j.bpobgyn.2008.01.001DOI Listing
February 2008

Evaluation of fetal arrhythmias from simultaneous pulsed wave Doppler in pulmonary artery and vein.

Heart 2007 Nov 12;93(11):1448-53. Epub 2006 Dec 12.

Brompton Fetal and Paediatric Cardiology, Royal Brompton Hospital, London, UK.

Objective: To evaluate the clinical application of simultaneous recordings of pulsed wave Doppler (PWD) signals in pulmonary artery and vein as alternative sampling site for assessment of arrhythmias in the fetus.

Design: Prospective, cross-sectional study.

Setting: Tertiary referral centre for fetal cardiology.

Patients And Methods: From July 1999 to July 2005 PWD was used in pulmonary vessels to assess fetal arrhythmias at 15-40 weeks' gestation. Sample volume placement in the peripheral lung vessels was guided by colour flow mapping on a four-chamber section of the fetal heart. Atrial and ventricular systoles were identified from the pulmonary venous and arterial signals respectively. M-mode recordings were used for comparison.

Outcome Measures: Diagnosis of fetal arrhythmias.

Results: Of 129 cases, 15 had supraventricular tachycardia, 12 with 1:1 atrioventricular conduction and 3 with atrial flutter and 2:1 block. There were 96 cases of atrial and 7 of ventricular premature beats, 2 of sinus bradycardia, 8 of variable degree heart block and 1 of ventricular tachycardia. PWD was diagnostic in 119 cases. PWD was better than M mode for diagnosis of premature beats and added information about mechanisms of tachycardia. Both methods facilitated interpretation of all arrhythmia patterns, although PWD was of less practical value in cases of complete heart block.

Conclusion: Simultaneous PWD recording of pulmonary vessels in the fetus allows accurate diagnosis of arrhythmias. It is easily obtained with standard ultrasound equipment and adds to the armamentarium of diagnostic techniques for assessment of rhythm abnormalities prenatally.
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http://dx.doi.org/10.1136/hrt.2006.101659DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2016910PMC
November 2007

Tetralogy of Fallot: from fetus to adult.

Heart 2006 Sep;92(9):1353-9

Department Paediatric Cardiology, Royal Brompton Hospital, London, UK.

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http://dx.doi.org/10.1136/hrt.2005.061143DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1861206PMC
September 2006

Nuchal translucency and fetal cardiac defects: a pooled analysis of major fetal echocardiography centers.

Am J Obstet Gynecol 2005 Jan;192(1):89-95

Department of Obstetrics and Gynecology, University Hospital of Ioannina, Greece.

Objective: Increased fetal nuchal translucency is associated with increased risk for congenital heart defects. In the present study, we aimed to investigate whether fetal nuchal translucency distribution differs among different types of congenital heart defects and whether it can lead to an earlier diagnosis.

Study Design: Four fetal echocardiography units provided data on fetuses with a congenital heart defect diagnosis in whom nuchal translucency thickness had been measured in the first trimester. Nuchal translucency data were compared per chromosomal status and type of congenital heart defect. Data on gestational age at diagnosis were also analyzed.

Results: Six hundred thirty-seven cases of congenital heart defect with known karyotype and exact nuchal translucency measurements were analyzed. Nuchal translucency was > or =3.5 mm in 22.9% of chromosomally normal fetuses (n = 397) and 58.8% of chromosomally abnormal cases (n = 240). Among fetuses with normal karyotype, the proportion of cases of congenital heart defect with increased nuchal translucency was similar in each of the subtypes of congenital heart defect (P = .96). Mean gestational age at diagnosis of congenital heart defect in fetuses with normal karyotype was 22.1 weeks with nuchal translucency of <3.5 mm and 16.1 weeks with nuchal translucency of > or =3.5 mm.

Conclusion: Finding nuchal translucency of > or =3.5 mm may lead to an earlier diagnosis of all major types of congenital heart defects.
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http://dx.doi.org/10.1016/j.ajog.2004.06.081DOI Listing
January 2005

Fetal heart scanning in the first trimester.

Prenat Diagn 2004 Dec;24(13):1060-7

Brompton Fetal Cardiology, Royal Brompton Hospital and Fetal Medicine Unit, St. George's Hospital, London, UK.

The detailed study of the fetal cardiac anatomy in the first trimester of pregnancy by means of ultrasound, transvaginally or transabdominally, is feasible and remains a safe procedure provided thermal and mechanical indices are taken into account. Optimal time for successful imaging of the four chambers and great arteries in early gestation appears to be between 13 to 14 weeks. In experienced hands, first-trimester fetal echocardiography is accurate in detecting major structural cardiac abnormalities and yields a high negative predictive value. Thus, in a clinical setting, it can be offered to families considered to be 'at risk' of cardiac defects (e.g. those with previous family history or when fetal nuchal translucency is increased) and can be a powerful tool to reassure families regarding normality of major cardiac structures and connections. However, the early detection of an important structural abnormality (chromosomally normal or not) may be associated with a high termination rate if this is an acceptable option. The high prevalence of associated chromosomal and extracardiac abnormalities for many of the high-risk families, who may benefit from this approach, cannot be ignored. Therefore, fetal heart scanning in the first trimester should be performed in conjunction with detailed first-trimester obstetric scanning.
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http://dx.doi.org/10.1002/pd.1063DOI Listing
December 2004

Association between increased nuchal translucency and second trimester cardiac echogenic foci.

Obstet Gynecol 2003 May;101(5 Pt 1):899-904

Department of Obstetrics and Gynecology, St George's Hospital Medical School, London, United Kingdom.

Objective: To test the hypothesis that increased first trimester nuchal translucency is associated with isolated cardiac foci in the second trimester.

Methods: We identified all pregnancies delivered between January 1997 and June 2000. We included 7686 normal singleton fetuses who had a nuchal translucency scan and either a subsequent normal anomaly scan at 18-23 weeks' gestation (n = 7447) or isolated cardiac foci (n = 239). Fetuses were divided into two groups: normal (95th percentile or less) and increased (greater than 95th percentile) nuchal translucency.

Results: The prevalence of cardiac echogenic foci in fetuses with normal nuchal translucency was 218 of 7427 (2.9%; 95% confidence interval [CI] 2.6, 3.3%), whereas 21 of 259 fetuses (8.1%; 95% CI 5.1, 12.1%) with increased nuchal translucency were subsequently found to have cardiac foci. The adjusted odds ratio for cardiac echogenic foci in cases of increased nuchal translucency was 2.92 (95% CI 1.83, 4.66).

Conclusion: An association exists between first trimester nuchal translucency and second trimester cardiac echogenic foci. Risk calculation algorithms for trisomy 21 based on nuchal translucency thickness should not use cardiac foci as an independent marker.
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http://dx.doi.org/10.1016/s0029-7844(02)03128-9DOI Listing
May 2003
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