Impact of maternal bariatric surgery on offspring perinatal cardiac function: A prospective study.

OBJECTIVE: To assess perinatal cardiac function in offspring of women with previous bariatric surgery and examine its association with maternal glucose control. DESIGN: Prospective study. SETTING: Maternity unit, UK. POPULATION: Fifty-four fetuses/neonates; 29 of post-bariatric surgery women and 25 of women without surgery. METHODS: Prospective, longitudinal observational study of pregnant women with and without previous bariatric surgery, matched for early pregnancy body mass index. Cardiac function of all offspring was assessed by two-dimensional conventional, spectral tissue Doppler and speckle-tracking echocardiography at 35-37 weeks of gestation and at 5-7 weeks of age. Maternal glycated haemoglobin (HbA1c) was measured at 27-30 weeks of gestation. Maternal demographics and fetal/infant cardiac function indices were compared between the groups. Correlation coefficient (r) is reported. MAIN OUTCOME MEASURES: Fetal/infant cardiac function indices. RESULTS: Compared with no-bariatric neonates, offspring of post-bariatric women were smaller at birth (birthweight centiles: 64.96 ± 36.41 versus 40.17 ± 27.99; p = 0.007). There were no significant differences in fetal/infant cardiac function indices and perinatal cardiac changes, between groups. There was a positive correlation between maternal HbA1c and fetal left ventricular (LV) longitudinal strain (r = 0.33) and LV longitudinal strain rate (r = 0.29), suggesting an inverse relation between HbA1c and fetal LV systolic function, but this was mainly seen in offspring of women with no previous bariatric surgery (r = 0.56 and r = 0.50, respectively). CONCLUSIONS: Maternal bariatric surgery does not appear to inadvertently affect the offspring cardiac performance. We found an inverse correlation between maternal HbA1c levels and fetal LV systolic function but this was mainly seen in the no-bariatric pregnancies.

Management of prenatally detected vascular rings: a United Kingdom national survey.

OBJECTIVE: To investigate UK variability in prenatal and postnatal management strategy of right aortic arch and double aortic arch (RAA/DAA). METHODS: Online surveys were sent to senior physicians (consultants) of the National Fetal Cardiology Working Group regarding prenatal diagnosis, counselling, and perinatal management of antenatally diagnosed RAA/DAA and to the British Congenital Cardiovascular Association regarding postnatal management strategies. RESULTS: There were 28 prenatal and 90 postnatal surveys completed. Prenatally, there was consensus for potential associated chromosomal/genetic anomalies, but there was variation in the risk quoted. Confidence in defining aortic arch morphology was reported by 43% (12/28) of fetal cardiologists. There was variation in what was felt to be possible symptoms/signs of a compressive vascular ring, postnatal investigation, postnatal management, follow-up duration of asymptomatic patients, and indications for surgical intervention. CONCLUSION: This study has highlighted important areas for future research: improving accuracy of prenatal diagnosis, clarification of potential symptoms, optimal investigation strategies, and indications for surgery.

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

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.

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

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.

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

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.

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

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.

Variants of the scimitar syndrome.

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.

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

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.

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

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.

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

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.

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

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.

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

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.

Fetal dysrhythmias.

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.

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

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.

Fetal dysrhythmias.

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.

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

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.

The association between prenatal atrioventricular septal defects and chromosomal abnormalities.

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.

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

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.

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

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.