Fetal Doppler Echocardiographic Assessment Predicts Severe Postnatal Obstruction in Total Anomalous Pulmonary Venous Connection.

BACKGROUND: Obstructed total anomalous pulmonary venous connection (TAPVC) is a form of critical congenital heart disease that usually requires urgent postnatal intervention. Knowing which patients have severe obstruction can aid delivery planning. The authors previously developed a novel quantitative metric of pulmonary venous flow, the pulmonary venous variability index (PVVI). The aim of this study was to test the hypothesis that fetal PVVI and vertical vein Doppler velocities are associated with severe pulmonary vein obstruction postnatally. METHODS: A retrospective cohort study of neonates with prenatally diagnosed TAPVC was performed. Patients who underwent fetal echocardiography at the Children's Hospital of Philadelphia with Doppler interrogation of the vertical vein were included for analysis. Twenty-nine patients met criteria (21 with heterotaxy, 18 with supracardiac TAPVC). The latest gestation fetal echocardiogram was used. Severe pulmonary vein obstruction was defined as preoperative death or urgent surgery or catheter-based intervention (first day of life). Measurements of PVVI, defined as (maximum velocity - minimum velocity)/mean velocity, were made offline. Wilcoxon rank sum models were used to assess the associations of severe obstruction and PVVI and maximum, mean, and minimum velocities. RESULTS: The mean gestational age at the latest fetal echocardiographic examination was 35 weeks (range, 30-39 weeks). Twelve of the 29 patients (41%) met criteria for severe pulmonary vein obstruction. Lower PVVI was associated with greater risk for severe pulmonary venous obstruction (P = .008). The maximum, mean, and minimum velocities in the vertical vein were all significantly associated with severe pulmonary venous obstruction (P = .03, P = .03, and P = .007, respectively). Qualitative assessment of obstruction was not significantly associated with the outcome. Interobserver reliability for all vertical vein Doppler metrics was high (intraclass correlation coefficient > 0.9). CONCLUSIONS: Fetal PVVI and maximum, mean, and minimum velocities are associated with severe postnatal pulmonary vein obstruction in TAPVC. Accurate prediction of obstructed TAPVC could allow safer delivery planning. Further research with larger sample sizes is needed to identify the ideal cutoff values for these Doppler measures.

Prenatal Echocardiographic Predictors of Postnatal Management Strategy in the Fetus with Right Ventricle Hypoplasia and Pulmonary Atresia or Stenosis.

Fetuses with pulmonary atresia or pulmonary stenosis with intact ventricular septum manifest variable degrees of right ventricle hypoplasia and inadequacy. We studied the relationship between prenatal echocardiographic parameters and their progression through gestation as potential predictors of postnatal single-ventricle or two-ventricle care strategy. Serial fetal echocardiograms of pulmonary atresia (n = 28) or severe pulmonary stenosis (n = 8) and intact ventricular septum were reviewed. Measurements included tricuspid valve and mitral valve diameter and Z scores, degree of tricuspid regurgitation, presence of subaortic stenosis, presence of coronary artery fistulae, and Doppler pulsatility indices in middle cerebral and umbilical artery. Data were compared between first and last fetal studies. Subjects were divided based on postnatal course of single- or two-ventricle repair. Tricuspid valve size of those destined for single ventricle is smaller than of those destined for a two-ventricle repair at first study (26w, Z score -4.22 v -1.83, p < 0.001) and at final study (35w, -4.94 v -1.42, p < 0.001). Tricuspid valve and right ventricle grow in those destined for two ventricle, but not single-ventricle palliation. Tricuspid valve Z score = -3 at first or last study discriminated between single- or two-ventricle repair, except in two unusual cases with significant subaortic stenosis. Tricuspid valve Doppler-derived parameters of middle cerebral artery and umbilical artery did not distinguish between groups. In the fetus with pulmonary atresia or stenosis and intact ventricular septum, tricuspid valve Z score ≥-3, presence of important tricuspid regurgitation, absence of coronary fistulae, and absence of subaortic stenosis are associated with a two-ventricle postnatal strategy.

Anatomic variability and outcome in prenatally diagnosed absent pulmonary valve syndrome.

BACKGROUND: We sought to describe current outcomes and risk factors for mortality for fetuses diagnosed with absent pulmonary valve syndrome (APV). Fetuses with APV were divided into two cohorts, those with underlying tetralogy of Fallot (TOF/APV) and those without underlying TOF and either an intact ventricular septum or small ventricular septal defect (APV/IVS). METHODS: The fetal echocardiographic database was reviewed from January 1, 2001, until June 1, 2010, and all subjects with a diagnosis of APV were included. Multiple clinical and fetal echocardiographic measurements were recorded. Statistical analysis was performed by χ2 analysis and t tests. Survival analysis was performed by Kaplan-Meier analysis. Significant relationships between variables were explored by regression analysis. Significance was set at p=0.05. RESULTS: The cohort consisted of 15 fetuses with TOF/APV and 6 fetuses with APV/IVS. There were no fetal demises in either cohort. Survival to birth was 71% in the TOF/APV cohort and 83% in the APV/IVS cohort (p=0.62). Of subjects born alive, survival was 80% for both cohorts (p=0.95). However, in the APV/IVS cohort, transplantation-free survival was only 20%. Underlying single-ventricle physiology strongly predicted those who underwent heart transplantation (p=0.003, R2=0.50). For the entire APV cohort, left ventricular dysfunction (p=0.005, R2=0.41) and a higher pulmonary artery valve-to-aortic valve ratio (p=0.02, R2=0.34) predicted mortality. CONCLUSIONS: Postnatal outcomes continue to improve for fetuses with APV syndrome. Left ventricular dysfunction and higher pulmonary artery valve-to-aortic valve ratio accurately predict postnatal mortality for fetuses with APV.

Perinatal course of Ebstein's anomaly and tricuspid valve dysplasia in the fetus.

OBJECTIVE: We sought to better define echocardiographic predictors of perinatal mortality in fetuses with Ebstein's anomaly (EA) or tricuspid valve dysplasia (TVD). METHOD: Parameters included measured chamber size, the presence of hydrops, and Doppler recordings of the left ventricular (LV) myocardial performance index (MPI). RESULTS: Between 1 January 2000 and 31 December 2008, 21 fetuses were diagnosed with either EA (17) or TVD (4). Five fetuses were lost to follow-up, and 12 of 16 fetuses were born live (75%). Survivors were found to have smaller right atrial area index scores when compared with non-survivors (1.025 ± 0312 vs 1.502 ± 0.105, respectively, p = 0.013) and were less likely to present with hydrops (0% survivors vs 75% of non-survivors, p < 0.01). LV MPI sub-analysis revealed a shorter combined isovolemic contraction and relaxation time for non-survivors compared wth survivors (46.5 ± 8.2 ms vs 82.3 ± 21.2 ms, respectively, p = 0.004) although no difference was observed for LV ejection times or overall LV MPI between survivors and non-survivors. CONCLUSION: Physiologic analysis of left ventricular function via the LV Tei index and its component measurements demonstrates potentially novel insights into hemodynamic derangements and their association with outcomes in patients with EA/TVD.

[Impact of selective fetoscopic laser photocoagulation for twin-twin transfusion syndrome on myocardial deformation].

OBJECTIVE: To investigate the changes in myocardial deformation in donor and recipient hearts in response to selective fetoscopic laser photocoagulation (SFLP) for twin-twin transfusion syndrome (TTTS). METHODS: Totally 25 twin pairs before 24-hour and 1 week after SFLP had fetal echocardiography and digital dynamic two-dimensional four chamber views which were interrogated off-line using velocity vector imaging (VVI) software. Global longitudinal strain (S), systolic strain rate (SRs) and diastolic strain rate (SRd) were measured off-line in the left (LV) and right (RV) ventricles. RESULTS: In the donor, SFLP resulted in increase in cardiothoracic ratio (CTR, 0.29 ± 0.03 versus 0.34 ± 0.05, P < 0.01), with development of new onset tricupid regurgitation (n = 7) and pericardial effusion (n = 5) and worsening of all measures of myocardial deformation in both systole and diastole for LV and RV [LV-S: (-19.24 ± 3.68)% versus (-13.78 ± 3.64)%, P < 0.01; LV-SRs: (-2.28 ± 0.53) versus (-1.43 ± 0.41) s(-1), P < 0.01; LV-SRd: (1.67 ± 0.43) versus (1.15 ± 0.70) s(-1), P < 0.01; RV-S: (-20.20 ± 3.19)% versus (-16.10 ± 3.07)%, P < 0.01; RV-SRs: (-2.03 ± 0.65) versus (-1.72 ± 0.38) s(-1), P < 0.05; RV-SRd: (1.71 ± 0.30) versus (1.50 ± 0.36) s(-1), P < 0.05]. In the recipient, CTR decreased (0.42 ± 0.04 versus 0.37 ± 0.04, P < 0.01) and all parameters for both LV and RV improved substantially [LV-S: (-10.62 ± 2.72)% versus (-16.46 ± 3.23)%, LV-SRs: (-1.09 ± 0.30) versus (-1.60 ± 0.31) s(-1), LV-SRd: (0.99 ± 0.34) versus (1.53 ± 0.32) s(-1), RV-S: (-11.66 ± 4.56)% versus (-17.96 ± 3.97)%, RV-SRs: (-1.26 ± 0.39) versus (-1.74 ± 0.45) s(-1), RV-SRd: (1.15 ± 0.49) versus (1.63 ± 0.44) s(-1); all P < 0.01]. CONCLUSION: Myocardial deformational mechanics improve in the recipient but worsen in the donor following SFLP for TTTS.

Right ventricular performance in the fetus with hypoplastic left heart syndrome.

BACKGROUND: In the fetus with hypoplastic left heart syndrome (HLHS), the single right ventricle (RV) pumps the entire cardiac output in utero. By investigating RV performance in utero, we sought to determine the inherent capabilities of a single RV before the increased metabolic demands of postnatal life and surgical palliation. In addition, we sought to determine whether the presence or absence of a left ventricular cavity impacts on RV performance in fetal life. METHODS: Between November 2004 and December 2006, Doppler flow-derived measures of ventricular performance were obtained with echocardiography in 76 fetuses with normal cardiovascular system and in 48 age-matched fetuses with HLHS from 17 weeks until 40 weeks of gestation. The myocardial performance index, ventricular ejection force, and cardiac output were determined for both groups and compared using unpaired Student's t tests and regression analysis. RESULTS: In fetuses with HLHS, cardiac output was diminished by 20%, RV ejection force was elevated, and RV myocardial performance index was elevated compared with those of normal fetuses. The presence of a left ventricular cavity did not impact on RV performance in utero. CONCLUSIONS: Fetuses with HLHS have preserved systolic performance but impaired diastolic performance compared with normal fetuses. The heart of a fetus with HLHS is less efficient than the normal heart in that ejection force of the RV is increased, but overall delivery of cardiac output is lower than normal. We conclude that patients with HLHS have inherent limitations in cardiac performance even before birth.

Heterotaxy syndrome with functional single ventricle: does prenatal diagnosis improve survival?

BACKGROUND: Despite improved outcome for many single ventricle lesions, staged reconstruction for heterotaxy syndrome with a functional single ventricle continues to have a high mortality. Prenatal identification of heterotaxy syndrome may improve long-term survival. METHODS: Our database was reviewed from January 1996 to December 2004 for patients with heterotaxy syndrome. Assessment was made for prenatal diagnosis and echocardiographic characteristics of heterotaxy syndrome. We sought to assess the accuracy of fetal echocardiography in the diagnosis of heterotaxy syndrome and determine whether prenatal diagnosis and other risk factors have an impact on survival in patients with heterotaxy syndrome. RESULTS: Of 81 patients that met criteria, 43 (53%) had prenatal diagnosis. Prenatal diagnosis had high specificity and positive predictive value for all findings but had low sensitivity for anomalous pulmonary veins. Among the 70 patients born alive, survival was 60% with median follow-up of 51.4 months (range, 6.5 to 109.7 months). Prenatal diagnosis did not improve survival (p = 0.09). None of the 11 patients with complete heart block (CHB) survived past 3 months of age. Two patients underwent heart transplantation as their first intervention and have survived. CHB and anomalous pulmonary venous connection were associated with shorter duration of survival. CONCLUSIONS: Prenatal diagnosis of heterotaxy syndrome does not improve survival in patients who undergo single ventricle reconstruction. The most potent risk factors for poor outcome (CHB, anomalous pulmonary veins) are likely not impacted by identification in utero. In light of the poor outcome, cardiac transplantation as an initial therapy may be a viable option for some patients.

Impact of continuous intraoperative monitoring on outcomes in open fetal surgery.

OBJECTIVES: There are shifts in fetal hemodynamics during open fetal surgery that were not appreciated until the use of intraoperative fetal echocardiography. We have developed an intraoperative monitoring strategy to continuously assess fetal hemodynamics. We hypothesized that this approach would enhance intraoperative management and survival. METHODS: Medical records of open fetal surgery patients were reviewed since the implementation of this approach. Intraoperative fetal monitoring was accomplished by continuous echocardiography, pulse oximetry, establishment of intravenous access, and arterial blood gas and hemoglobin measurement. Overall survival was compared to fetal surgeries performed prior implementation of this monitoring strategy. RESULTS: Resections of a congenital cystic adenomatoid malformation or a sacrococcygeal teratoma in nine hydropic fetuses were performed while using this monitoring strategy. Intraoperative echocardiography resulted in a change of management in 7 of 9 fetuses. The main observations on fetal echocardiography resulting in intraoperative intervention were decreased ventricular filling, bradycardia, and decreased ventricular contractility. Therapy included administration of volume expanders and/or inotropic agents. Overall fetal survival was 78% compared to a survival of 42% prior to the implementation of this approach. CONCLUSION: Continuous intraoperative fetal monitoring provides real time assessment of fetal hemodynamics which results in changes in intraoperative management. The overall outcomes in these critically ill fetuses have been improved.

Acute cardiovascular effects of fetal surgery in the human.

BACKGROUND: Prenatal surgery for congenital anomalies can prevent fetal demise or alter the course of organ development, resulting in a more favorable condition at birth. The indications for fetal surgery continue to expand, yet little is known about the acute sequelae of fetal surgery on the human cardiovascular system. METHODS AND RESULTS: Echocardiography was used to evaluate the heart before, during, and early after fetal surgery for congenital anomalies, including repair of myelomeningocele (MMC, n=51), resection of intrathoracic masses (ITM, n=15), tracheal occlusion for congenital diaphragmatic hernia (CDH, n=13), and resection of sacrococcygeal teratoma (SCT, n=4). Fetuses with MMC all had normal cardiovascular systems entering into fetal surgery, whereas those with ITM, CDH, and SCT all exhibited secondary cardiovascular sequelae of the anomaly present. At fetal surgery, heart rate increased acutely, and combined cardiac output diminished at the time of fetal incision for all groups including those with MMC, which suggests diminished stroke volume. Ventricular dysfunction and valvular dysfunction were identified in all groups, as was acute constriction of the ductus arteriosus. Fetuses with ITM and SCT had the most significant changes at surgery. CONCLUSIONS: Acute cardiovascular changes take place during fetal surgery that are likely a consequence of the physiology of the anomaly and the general effects of surgical stress, tocolytic agents, and anesthesia. Echocardiographic monitoring during fetal surgery is an important adjunct in the management of these patients.

Parental decision-making in congenital heart disease.

OBJECTIVE: To explore whether prenatal diagnosis of congenital heart disease is associated with lower levels of parental distress and greater satisfaction with decisions about cardiothoracic surgery when compared to postnatal diagnosis. METHODOLOGY: A combined quantitative-qualitative design was used. Participants included the parents of 31 neonates (30 mothers and 22 fathers) admitted to the cardiac intensive care unit between 1 November 2001 and 1 May 2002 for repair of congenital cardiac malformations. Participants completed self-report measures of anxiety, optimism, and life events pre-operatively, and semi-structured qualitative interviews assessing satisfaction with decision-making within 1 week of the operation. RESULTS: At the time of surgery, mothers of neonates receiving the diagnosis prenatally did not differ from mothers of neonates receiving the diagnosis postnatally on measures of anxiety, optimism, and life events. Fathers of neonates receiving the diagnosis prenatally, however, reported more optimism, lower state and trait anxiety, and fewer negative life events than fathers of neonates receiving the diagnosis postnatally. When we analyzed the interviews, we found that, regardless of the timing of the diagnosis, parents felt as though they made a genuine choice for their baby to have surgery. CONCLUSIONS: In this pilot study, fathers who learned prenatally that their child had a congenital cardiac malformation were less distressed than those who discovered this fact only postnatally. From the parental perspective, nonetheless, distress and urgency do not impair their ability to make decisions about neonatal cardiac surgery.