Geospatial Distribution of Prenatally and Postnatally Diagnosed Congenital Heart Disease: Implications for Equitable Care from a Fetal Heart Society Research Collaborative Study.

OBJECTIVE: To characterize patterns in the geospatial distribution of pre- and postnatally diagnosed congenital heart disease (CHD) across 6 surgical centers. STUDY DESIGN: A retrospective, multicenter case series from the Fetal Heart Society identified patients at 6 centers from 2012 through 2016 with prenatally (PrND) or postnatally (PoND) diagnosed hypoplastic left heart syndrome (HLHS) or d-transposition of the great arteries (TGA). Geospatial analysis for clustering was done by the average nearest neighbor (ANN) tool or optimized hot spot tool, depending on spatial unit and data type. Both point location and county case rate per 10 000 live births were assessed for geographic clustering or dispersion. RESULTS: Of the 453 CHD cases, 26% were PoND (n = 117), and 74% were PrND (n = 336). PrND cases, in all but one center, displayed significant geographic clustering by the ANN. Conversely, PoND cases tended toward geographic dispersion. Dispersion of PoND HLHS occurred in 2 centers (ANN = 1.59, P < .001; and 1.47, P = .016), and PoND TGA occurred in 2 centers (ANN = 1.22, P < .05; and ANN = 1.73, P < .001). Hot spot analysis of all CHD cases (TGA and HLHS combined) revealed clustering near areas of high population density and the tertiary surgical center. Hot spot analysis of county-level case rate, accounting for population density, found variable clustering patterns. CONCLUSION: Geographic dispersion among postnatally detected CHD highlights the need for a wider reach of prenatal cardiac diagnosis tailored to the specific needs of a community. Geospatial analysis can support centers in improving the equitable delivery of prenatal care.

Management of Ebstein Anomaly in the Current Era: The Story of One Fetus and the Collaboration of Many-A Case Report.

Collaborative multicenter research has significantly increased our understanding of fetal Ebstein anomaly, delineating risk factors for adverse outcomes as well as predictors of postnatal management. These data are incorporated into prenatal care and therapeutic strategies and inform family counseling and delivery planning to optimize care. This report details the translation of findings from multicenter studies into multidisciplinary prenatal care for a fetus with Ebstein anomaly, supraventricular tachycardia, and a circular shunt, including transplacental therapy to control arrhythmias and achieve ductal constriction, informed and coordinated delivery room management, and planned univentricular surgical palliation.

An Observational Study of Dialogue about Uncertainty in Clinician-Family Counseling Conversations Following Prenatal Diagnosis of Complex Congenital Heart Disease.

Objective: Families who receive a prenatal diagnosis of complex congenital heart disease (cCHD) often experience severe psychological distress and identify uncertainty as a key source of that distress. This study examined clinician-family conversations during initial fetal cardiology consultations to identify the topics of uncertainty discussed. Methods: In this observational, qualitative study, initial fetal cardiology consultations were audio-recorded, transcribed verbatim, and coded by two independent coders. A codebook was inductively and deductively developed and applied. This content analysis focused on uncertainty-related codes and associated themes. Results: During 19 consultations including five clinicians, 13 different cardiac diagnoses were discussed (seven with high mortality risk). Median consultation length was 37 min (IQR: 26-51), with only 11% of words spoken by families. On average, 51% of total words spoken focused on uncertainty in relation to cardiac diagnosis, etiology, comorbidities, prognosis, childbirth, therapeutics, and logistics. Family-initiated discussion on uncertainty largely focused on childbirth and pregnancy and postpartum logistics. Conclusions: Half of dialogue within initial fetal cardiology encounters discussed uncertainty surrounding prenatally diagnosed cCHD. Parent and clinician perspectives should be gathered on the essential content and optimal delivery of uncertainty-related topics. Innovation: This study is conceptually and methodologically innovative as one of the first to examine audio-recorded dialogue between fetal cardiology clinicians and families.

Postoperative Morbidity and Interstage Hemodynamics Following Stage I Palliation in Patients with Turner Syndrome and Hypoplastic Left Heart Syndrome.

BACKGROUND: Turner syndrome (TS) is associated with left-sided cardiac lesions, including hypoplastic left heart syndrome (HLHS). Mortality as high as 80-90% has been reported following stage I single-ventricle palliation (S1P) in patients with TS and HLHS (TS + HLHS). The specific factors that relate to poor outcomes are not well understood. METHODS: This is a single-center, retrospective cohort study that includes 197 patients with HLHS who underwent S1P between 2008 and 2022. The clinical outcomes and interstage hemodynamics of TS + HLHS patients (N = 11) were compared with HLHS without TS (TS-HLHS), (N = 186). RESULTS: Of the 11 TS + HLHS patients, 10 underwent S1P; 4 underwent Glenn and 1 had hemodynamics considered prohibitive for Glenn; only 1 survived to Fontan palliation. Post-S1P mortality was higher in TS + HLHS (60 v 25%, p = 0.017). Following S1P, TS + HLHS had higher rates of postoperative ECMO (70 v 28%, p = 0.006), surgical necrotizing enterocolitis (20 v 3%, p = 0.007), peritoneal drain placement (70 v 31%, p = 0.012), urinary tract infection (30 v 9%, p = 0.035), and ICU readmissions (median 5 v 1, p = 0.035). Interstage hemodynamics demonstrated higher right ventricular end diastolic, (11 v 8mmHg, p = 0.033), mean pulmonary artery (20 v 13mmHg) (p = 0.002), and left atrial pressures (9 v 6mmHg, p = 0.047) in TS + HLHS. CONCLUSION: High mortality rates are described in TS + HLHS patients following S1P. In our cohort, despite most surviving more than 30 days post-S1P, long-term survival remained poor. Interstage catheterization data suggest poor physiologic candidacy for subsequent stages of single-ventricle palliation. Understanding the clinical and hemodynamic factors related to poor outcomes in TS + HLHS will help inform management for this population.

Mitral Valve Abnormalities Associated with Single-Ventricle Palliation, Cardiac Death or Transplant in Fetuses with Postnatally Confirmed Coarctation of the Aorta.

Predicting if a fetus with borderline left heart structures and coarctation of the aorta (CoA) will require single ventricle palliation (SVP) is challenging, partly due to the limitations of fetal echocardiography in defining valvar abnormalities. Fetal echocardiographic findings predictive of SVP, particularly in relation to the mitral valve (MV), are not well defined. We performed a retrospective review of fetuses with postnatally confirmed CoA from 2010 to 2020. Fetuses with complex congenital heart disease or unequivocal hypoplastic left heart syndrome were excluded. Data were compared between those who underwent biventricular repair (BVR) versus SVP, cardiac death or orthotopic heart transplant (OHT) to determine differences in fetal echocardiograms. Of 67 fetuses with 131 total echocardiograms, 62 (93%) underwent BVR and 5 (7%) experienced SVP, cardiac death or OHT. Fetuses with confirmed CoA who experienced SVP, cardiac death, or OHT, had fetal MV z-scores that were 2.03 lower, on average, than those who underwent BVR (z-score = - 3.98 vs. - 1.94, 95% CI - 2.93, - 1.13). The incidences of MV anomalies and left to right flow across the foramen ovale were higher in the SVP, cardiac death and OHT group. SVP, cardiac death or OHT in fetuses with confirmed CoA were associated with severe fetal MV hypoplasia, MV anomalies and left to right flow across the foramen ovale. These findings may help guide prenatal counseling about the likelihood of SVP, cardiac death or OHT in fetuses with CoA and borderline left heart structures.

Mitral valve abnormalities associated with single-ventricle palliation, cardiac death or transplant in fetuses with postnatally confirmed coarctation of the aorta.

Introduction: Predicting if a fetus with borderline left heart structures and coarctation of the aorta (CoA) will require single ventricle palliation (SVP) is challenging, partly due to the limitations of fetal echocardiography in defining valvar abnormalities. Fetal echocardiographic findings predictive of SVP, particularly in relation to the mitral valve (MV), are not well defined. Methods: We performed a retrospective review of fetuses with postnatally confirmed CoA from 2010 to 2020. Fetuses with complex congenital heart disease or unequivocal hypoplastic left heart syndrome were excluded. Data were compared between those who underwent biventricular repair (BVR) vs. SVP cardiac death or orthotopic heart transplant (OHT) to determine differences in fetal echocardiograms. Results: Of 67 fetuses with 131 total echocardiograms, 62 (93%) underwent BVR and 5 (7%) experienced SVP, cardiac death or OHT. Fetuses with confirmed CoA who experienced SVP cardiac death, or OHT, had fetal MV z-scores that were 2.06 lower, on average, than those who underwent BVR (z-score = -3.98 vs. -1.92, 95% CI: -2.96, -1.16). The incidences of MV anomalies and left to right flow across the foramen ovale were higher in the SVP cardiac death and OHT group. Conclusion: SVP, cardiac death or OHT in fetuses with confirmed CoA were associated with fetal MV hypoplasia, MV anomalies and left to right flow across the foramen ovale. These findings may help guide prenatal counseling about the likelihood of SVP, cardiac death or OHT in fetuses with CoA and borderline left heart structures.

"I Just Want You to Hear That Term": Characterizing Language Used in Fetal Cardiology Consultations.

The way clinicians communicate with parents during pregnancy about congenital heart disease (CHD) can significantly influence parental understanding of and psychological response to the diagnosis. A necessary first step to improving communication used in fetal cardiology consultations is to understand and describe the language currently used, which this paper aims to do. Nineteen initial fetal cardiology consultations with parents were audio-recorded, transcribed verbatim, and coded by two independent coders. A codebook was inductively developed and applied to all transcripts. The finalized coding was used to characterize fetal cardiologists' language. We identified four discourse styles employed in fetal cardiology consultations: small talk, medical, plain, and person-centered. Plain language was used to define and emphasize the meaning of medical language. Person-centered language was used to emphasize the baby as a whole person. Each consultation included all four discourse styles, with plain and medical used most frequently. Person-centered was used less frequently and mostly occurred near the end of the encounters; whether this is the ideal balance of discourse styles is unknown. Clinicians also used person-centered language (as opposed to disease-centered language), which is recommended by medical societies. Future studies should investigate the ideal balance of discourse styles and the effects of clinician discourse styles on family outcomes, including parents' decision-making, psychological adjustment, and quality of life.

A rare case of isolated right atrial enlargement and TBX5 mutation associated with Holt-Oram syndrome.

Holt-Oram syndrome or atriodigital dysplasia is commonly associated with cardiac malformations, most often with defects of the muscular septum. We describe the case of a fetus referred for fetal cardiology evaluation in the setting of right atrial enlargement without tricuspid valve abnormalities with small muscular VSDs, and without other significant cardiac lesions. On serial fetal echocardiograms, isolated right atrial enlargement was persistent as was relative fetal bradycardia without apparent AV block or other signs of abnormal conduction. Limb or other anatomic abnormalities were also not visualized on prenatal scans. A postnatal diagnosis of Holt-Oram Syndrome was made. In the setting of isolated right atrial enlargement, we suggest a comprehensive sonographic search for upper limb abnormalities as well as genetic evaluation.

Mapping parents' journey following prenatal diagnosis of CHD: a qualitative study.

OBJECTIVE: To better understand parents' accounts of their prenatal and postnatal experience after prenatal diagnosis of CHD - particularly emotional processing and coping mechanisms - to identify strategies to improve support. METHODS: This single-centre, longitudinal qualitative study included pregnant mothers and their support persons seen in Fetal Cardiology Clinic at Vanderbilt Children's Hospital from May through August 2019 for probable complex CHD. Twenty-seven individuals from 17 families participated in 62 phone interviews during pregnancy and postpartum: 27 conducted after the initial prenatal cardiology consultation, 15 after a follow-up prenatal visit, and 20 after birth. Applied thematic analysis approach was used to code and analyse transcribed interviews. Coding and codebook revisions occurred iteratively; intercoder reliability was >80%. RESULTS: Patients included mothers (16 [59%]), fathers (8 [30%]), and other support persons (3 [11%]). Initial fetal diagnoses included a range of moderate to severe CHD. Prenatally, parents sought to maintain hope while understanding the diagnosis; planning for the future rather than focusing on day-to-day was more common if prognoses were better. Postnatally, with confirmation of prenatal diagnoses, parents' sense of control expanded, and they desired more active engagement in clinical decision making. CONCLUSIONS: To enhance effective communication and support, understanding how parents conceptualise hope in relation to diagnosis and how that may evolve over time is critical. Expectant parents whose child has a significant risk of mortality may demonstrate hope by focusing on positivity. As prognostic uncertainty diminishes postpartum, the parental role on the team may shift, requiring clinicians to provide different support.

Prenatally diagnosed coronary artery abnormalities in hypoplastic left heart syndrome are associated with a higher probability of heart transplantation.

OBJECTIVE: Coronary artery abnormalities (CA) occur in patients with hypoplastic left heart syndrome (HLHS) and may be associated with higher mortality and heart transplantation (HT). We aimed to determine whether fetuses with HLHS and prenatal CA have a higher risk of death or HT. METHODS: We performed a retrospective review of fetal echocardiograms with HLHS from 2011 to 2018. We excluded fetuses with ventricular septal defects, elective termination, death in utero, planned postnatal non-intervention, or absent follow-up data. Presence or absence of CA was determined by review of serial fetal echocardiograms. Survival analysis was used to evaluate the relationship between prenatal CA and death or HT. RESULTS: Of 86 patients with fetal HLHS, 11 had prenatal diagnosis of CA. Of these, six required HT and five died (one after undergoing HT); only one remains alive without HT. Of those without prenatal CA (n = 75), 25 died and 7 underwent HT. Patients with prenatal diagnosis of HLHS and CA had a significantly increased likelihood of death or HT (p-value <0.05). CONCLUSION: Prenatal diagnosis of CA in our cohort of patients with HLHS was associated with increased risk of death or HT. These data have significance for prenatal counseling and postnatal management.

Contemporary Outcomes in Tetralogy of Fallot With Absent Pulmonary Valve After Fetal Diagnosis.

Background Tetralogy of Fallot with absent pulmonary valve is associated with high mortality, but it remains difficult to predict outcomes prenatally. We aimed to identify risk factors for mortality in a large multicenter cohort. Methods and Results Fetal echocardiograms and clinical data from 19 centers over a 10-year period were collected. Primary outcome measures included fetal demise and overall mortality. Of 100 fetuses, pregnancy termination/postnatal nonintervention was elected in 22. Of 78 with intention to treat, 7 (9%) died in utero and 21 (27%) died postnatally. With median follow-up of 32.9 months, no deaths occurred after 13 months. Of 80 fetuses with genetic testing, 46% had chromosomal abnormalities, with 22q11.2 deletion in 35%. On last fetal echocardiogram, at a median of 34.6 weeks, left ventricular dysfunction independently predicted fetal demise (odds ratio [OR], 7.4; 95% CI 1.3, 43.0; P=0.026). Right ventricular dysfunction independently predicted overall mortality in multivariate analysis (OR, 7.9; 95% CI 2.1-30.0; P=0.002). Earlier gestational age at delivery, mediastinal shift, left ventricular/right ventricular dilation, left ventricular dysfunction, tricuspid regurgitation, and Doppler abnormalities were associated with fetal and postnatal mortality, although few tended to progress throughout gestation on serial evaluation. Pulmonary artery diameters did not correlate with outcomes. Conclusions Perinatal mortality in tetralogy of Fallot with absent pulmonary valve remains high, with overall survival of 64% in fetuses with intention to treat. Right ventricular dysfunction independently predicts overall mortality. Left ventricular dysfunction predicts fetal mortality and may influence prenatal management and delivery planning. Mediastinal shift may reflect secondary effects of airway obstruction and abnormal lung development and is associated with increased mortality.

Impact of Socioeconomic Status, Race and Ethnicity, and Geography on Prenatal Detection of Hypoplastic Left Heart Syndrome and Transposition of the Great Arteries.

BACKGROUND: Prenatal detection (PND) has benefits for infants with hypoplastic left heart syndrome (HLHS) and transposition of the great arteries (TGA), but associations between sociodemographic and geographic factors with PND have not been sufficiently explored. This study evaluated whether socioeconomic quartile (SEQ), public insurance, race and ethnicity, rural residence, and distance of residence (distance and driving time from a cardiac surgical center) are associated with the PND or timing of PND, with a secondary aim to analyze differences between the United States and Canada. METHODS: In this retrospective cohort study, fetuses and infants <2 months of age with HLHS or TGA admitted between 2012 and 2016 to participating Fetal Heart Society Research Collaborative institutions in the United States and Canada were included. SEQ, rural residence, and distance of residence were derived using maternal census tract from the maternal address at first visit. Subjects were assigned a SEQ z score using the neighborhood summary score or Canadian Chan index and separated into quartiles. Insurance type and self-reported race and ethnicity were obtained from medical charts. We evaluated associations among SEQ, insurance type, race and ethnicity, rural residence, and distance of residence with PND of HLHS and TGA (aggregate and individually) using bivariate analysis with adjusted associations for confounding variables and cluster analysis for centers. RESULTS: Data on 1862 subjects (HLHS: n=1171, 92% PND; TGA: n=691, 58% PND) were submitted by 21 centers (19 in the United States). In the United States, lower SEQ was associated with lower PND in HLHS and TGA, with the strongest association in the lower SEQ of pregnancies with fetal TGA (quartile 1, 0.78 [95% CI, 0.64-0.85], quartile 2, 0.77 [95% CI, 0.64-0.93], quartile 3, 0.83 [95% CI, 0.69-1.00], quartile 4, reference). Hispanic ethnicity (relative risk, 0.85 [95% CI, 0.72-0.99]) and rural residence (relative risk, 0.78 [95% CI, 0.64-0.95]) were also associated with lower PND in TGA. Lower SEQ was associated with later PND overall; in the United States, rural residence and public insurance were also associated with later PND. CONCLUSIONS: We demonstrate that lower SEQ, Hispanic ethnicity, and rural residence are associated with decreased PND for TGA, with lower SEQ also being associated with decreased PND for HLHS. Future work to increase PND should be considered in these specific populations.

Extracardiac Doppler indices predict perinatal mortality in fetuses with Ebstein anomaly and tricuspid valve dysplasia.

OBJECTIVES: Ebstein anomaly and tricuspid valve dysplasia (EA/TVD) carry high perinatal mortality. Past studies have focused on cardiac predictors of mortality; we sought to describe the fetal echo (FE) extracardiac Dopplers in this cohort and determine their association with perinatal mortality. METHOD: Fetuses with EA/TVD at 23 centers from 2005-2011 were included for retrospective study. Doppler pattern and velocity of the umbilical artery (UA), umbilical vein (UV), ductus venosus (DV), and middle cerebral artery (MCA) were collected. Bivariate and multivariate analyzes were performed. The primary outcome measure was perinatal mortality, defined as fetal demise or neonatal death. RESULTS: Of 190 cases that met eligibility criteria, alterations were seen in 50% of UA, 16% of UV, 48% of DV, and 8% of MCA Doppler indices on the last FE (median 27.4 weeks). Independent predictors of perinatal mortality included abnormal UA Doppler pattern of absence or reversed end diastolic flow (OR 9.7) and UV velocity z score <1 (OR 2.5), in addition to diagnosis <32 weeks (OR 4.2) and tricuspid valve (TV) annulus z score ≥6 (OR 5.3). CONCLUSION: Abnormal UA Doppler pattern and decreased UV velocity are independent predictors of perinatal mortality in EA/TVD fetuses and should be used to refine mortality risk and guide perinatal management.

Risk Factors for Mortality and Circulatory Outcome Among Neonates Prenatally Diagnosed With Ebstein Anomaly or Tricuspid Valve Dysplasia: A Multicenter Study.

Background In a recent multicenter study of perinatal outcome in fetuses with Ebstein anomaly or tricuspid valve dysplasia, we found that one third of live-born patients died before hospital discharge. We sought to further describe postnatal management strategies and to define risk factors for neonatal mortality and circulatory outcome at discharge. Methods and Results This 23-center, retrospective study from 2005 to 2011 included 243 fetuses with Ebstein anomaly or tricuspid valve dysplasia. Among live-born patients, clinical and echocardiographic factors were evaluated for association with neonatal mortality and palliated versus biventricular circulation at discharge. Of 176 live-born patients, 7 received comfort care, 11 died <24 hours after birth, and 4 had insufficient data. Among 154 remaining patients, 38 (25%) did not survive to discharge. Nearly half (46%) underwent intervention. Mortality differed by procedure; no deaths occurred in patients who underwent right ventricular exclusion. At discharge, 56% of the cohort had a biventricular circulation (13% following intervention) and 19% were palliated. Lower tricuspid regurgitation jet velocity (odds ratio [OR], 2.3 [1.1-5.0], 95% CI, per m/s; P=0.025) and lack of antegrade flow across the pulmonary valve (OR, 4.5 [1.3-14.2]; P=0.015) were associated with neonatal mortality by multivariable logistic regression. These variables, along with smaller pulmonary valve dimension, were also associated with a palliated outcome. Conclusions Among neonates with Ebstein anomaly or tricuspid valve dysplasia diagnosed in utero, a variety of management strategies were used across centers, with poor outcomes overall. High-risk patients with low tricuspid regurgitation jet velocity and no antegrade pulmonary blood flow should be considered for right ventricular exclusion to optimize their chance of survival.

Uncertainty of Prenatally Diagnosed Congenital Heart Disease: A Qualitative Study.

Importance: Parents who receive a prenatal diagnosis of congenital heart disease may experience more short- and long-term stress than those who receive a postnatal diagnosis. To identify potential interventions to ameliorate that stress, the longitudinal emotional experience of parents must first be understood. Objective: To better understand parents' accounts of their own prenatal experience, particularly aspects they found to be stressful or challenging, and to identify strategies to improve support. Design, Setting, and Participants: This qualitative study included analysis of transcripts of audio recorded telephone interviews with pregnant mothers and their support persons, as applicable, who were referred to and seen at the Fetal Cardiology Clinic at Vanderbilt Children's Hospital from May 2019 to August 2019 with an initial likely diagnosis of complex congenital heart disease at any gestational age. Data analysis was conducted from August 2019 to November 2019. Main Outcomes and Measures: An applied thematic analysis approach was used to code and analyze professionally transcribed interviews. Coding and codebook revisions occurred iteratively; intercoder reliability was assessed and confirmed routinely. One author coded all transcripts; a second author independently reviewed one-fifth of the transcripts at fixed intervals to ensure that interrater reliability remained greater than 80%. Results: Twenty-seven individuals from 17 families participated in 42 phone interviews during pregnancy, 27 conducted at the first time point after the initial prenatal cardiology consultation and 15 at the second time point after a follow-up prenatal cardiology visit. Most interviewees were mothers (16 interviewees [59%]; median [interquartile range] age, 30.0 [27.3-34.8] years) or fathers (8 interviewees [30%)], with a few support individuals (3 interviewees [11%]) (median [interquartile range] age of family member or support individual, 30.0 [26.0-42.0] years). Initial fetal diagnoses included a range of severe congenital heart disease. Uncertainty was identified as a pervasive central theme and was related both to concrete questions on scheduling, logistics, or next steps, and long-term unknown variables concerning the definitiveness of the diagnosis or overall prognosis. Practitioners helped families through their framing of uncertainty at various time points including before, during, and after the clinic visit. Conclusions and Relevance: Families walk an uncertain path following a fetal diagnosis of severe congenital heart disease. The challenges faced by the cardiologists caring for them overlap in many ways with those experienced by pediatric palliative care practitioners. Potential future interventions to improve parental support were identified in the areas of expectation setting before the referral visit, communication in clinic, and identity formation after the new diagnosis.

Prenatally Diagnosed Congenital Ventricular Outpouchings: An Institutional Experience and Review of the Literature.

Congenital ventricular outpouchings (CVOs) are rare congenital heart defects with limited data regarding prognosis and outcomes. We aimed to describe the characteristics, outcomes and factors associated with morbidity and mortality of prenatally diagnosed CVOs using our institutional experience and a review of published cases. A total of 86 cases of prenatally diagnosed CVOs were identified, including 3 from our institution and 83 cases identified from a review of the literature. Fetal and postnatal outcomes were analyzed for each case. Pericardial effusions (44%) and ventricular dysfunction (17%) were the most common associated findings. Excluding cases that resulted in pregnancy termination, mortality was 17%, with the majority (11/13) occurring in the prenatal period. Factors associated with mortality included an outpouching located on the left ventricle, a diagnosis of hydrops fetalis, the presence of a pericardial effusion, and an earlier gestational age at diagnosis. Of those that survived to delivery, 57% remained asymptomatic without the need for intervention, and the outpouching regressed or resolved in an additional 15%. Prenatally diagnosed congenital ventricular outpouchings are a dynamic form of congenital heart disease with a high fetal mortality rate. The outcomes associated with the outpouchings appear to be the most variable in the prenatal period and the first year after birth. Serial prenatal and postnatal evaluations should be performed to evaluate for a change in the characteristics of the outpouching.

Outcomes and Predictors of Perinatal Mortality in Fetuses With Ebstein Anomaly or Tricuspid Valve Dysplasia in the Current Era: A Multicenter Study.

BACKGROUND: Ebstein anomaly and tricuspid valve dysplasia are rare congenital tricuspid valve malformations associated with high perinatal mortality. The literature consists of small, single-center case series spanning several decades. We performed a multicenter study to assess the outcomes and factors associated with mortality after fetal diagnosis in the current era. METHODS AND RESULTS: Fetuses diagnosed with Ebstein anomaly and tricuspid valve dysplasia from 2005 to 2011 were included from 23 centers. The primary outcome was perinatal mortality, defined as fetal demise or death before neonatal discharge. Of 243 fetuses diagnosed at a mean gestational age of 27±6 weeks, there were 11 lost to follow-up (5%), 15 terminations (6%), and 41 demises (17%). In the live-born cohort of 176 live-born patients, 56 (32%) died before discharge, yielding an overall perinatal mortality of 45%. Independent predictors of mortality at the time of diagnosis were gestational age <32 weeks (odds ratio, 8.6; 95% confidence interval, 3.5-21.0; P<0.001), tricuspid valve annulus diameter z-score (odds ratio, 1.3; 95% confidence interval, 1.1-1.5; P<0.001), pulmonary regurgitation (odds ratio, 2.9; 95% confidence interval, 1.4-6.2; P<0.001), and a pericardial effusion (odds ratio, 2.5; 95% confidence interval, 1.1-6.0; P=0.04). Nonsurvivors were more likely to have pulmonary regurgitation at any gestational age (61% versus 34%; P<0.001), and lower gestational age and weight at birth (35 versus 37 weeks; 2.5 versus 3.0 kg; both P<0.001). CONCLUSION: In this large, contemporary series of fetuses with Ebstein anomaly and tricuspid valve dysplasia, perinatal mortality remained high. Fetuses with pulmonary regurgitation, indicating circular shunt physiology, are a high-risk cohort and may benefit from more innovative therapeutic approaches to improve survival.

Fetuses of Mothers with Thyroid Disease May Be at Higher Risk of Developing Supraventricular Tachycardia.

OBJECTIVE: Fetal tachyarrhythmias complicate 0.5% of pregnancies, with high morbidity and mortality. We hypothesized that maternal factors may predispose to fetal supraventricular tachycardia (SVT). STUDY DESIGN: We reviewed medical records of all 124 mothers who presented to the Vanderbilt Fetal Cardiology Clinic from 2004 to 2010 for fetal arrhythmias, excluding heart block. Maternal factors were compared between 28 fetuses with SVT and a control group of 112 fetuses screened for noncardiac conditions. The proportions were analyzed using chi-square or Fisher exact test for categorical variables and Wilcoxon rank sum test for continuous variables. RESULTS: Of maternal factors, thyroid disease was statistically significant compared with controls. Among mothers whose fetuses had SVT, 21% had thyroid disease (83% hypothyroidism) compared with 3% of controls (p < 0.001). CONCLUSION: In this cohort, the maternal thyroid disease was more common in fetuses with SVT compared with controls (odds ratio = 9.8, 95% confidence interval 2.3-42.3), suggesting closer screening for fetal arrhythmias and SVT in mothers with thyroid disease. Also, routine screening of thyroid functions and thyroid autoantibodies may be warranted in mothers of fetuses with SVT.