Margaret M. Vernon

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.

Fetal diagnosis of interrupted aortic arch.

To determine the frequency of prenatal detection among liveborn patients with an interrupted aortic arch (IAA), the accuracy of prenatal diagnosis, and the anatomic features associated with IAA in the fetus. The prenatal diagnosis of an IAA is challenging. The data on the features and outcomes of fetal IAA are limited. This was a retrospective review of the fetuses and neonates diagnosed with IAA at the Childrens Hospital Boston. From 1988 to 2009, 26 fetuses were diagnosed with an IAA. Of these, 21 were live born, and 5 pregnancies were terminated. Of these 21 patients, 18 were confirmed to have an IAA after birth and 3 had severe aortic coarctation. Of the 56 patients diagnosed with an IAA as neonates, 3 had a prenatal echocardiogram that did not include the correct diagnosis. Among the liveborn patients with a postnatally confirmed IAA, 24% were diagnosed prenatally, which increased from 11% during the first 7-year period to 43% more recently. Also, 15% of the prenatally diagnosed patients with IAA had a family history of structural or genetic anomalies. In fetuses with an IAA, echocardiographic Z-scores for the aortic valve and ascending aorta were significantly lower than in normal fetuses, but the left ventricular dimensions were normal. Aortopulmonary diameter ratios were abnormally low. In conclusion, although the identification of IAA on a prenatal echocardiogram can be challenging, a number of anatomic features can facilitate the diagnosis. In particular, a low aortopulmonary diameter ratio in the absence of a ventricular size discrepancy should prompt consideration of this diagnosis. Despite the diagnostic challenges, the frequency of prenatal diagnosis of the IAA is increasing.

Utility of novel fetal echocardiographic morphometric measures of the aortic arch in the diagnosis of neonatal coarctation of the aorta.

Prenatal diagnosis of neonatal coarctation of the aorta (CoA) is challenging; there is a high false–positive rate, yet 60–80% are not identified prenatally. We aimed to identify novel fetal echocardiographic measures to improve prenatal identification of CoA.

Critical Congenital Heart Disease Screening Practices Among Licensed Midwives in Washington State

INTRODUCTION Since 2011, pulse oximetry screening for critical congenital heart disease (CCHD) has been recommended for newborns. Initial implementation guidelines focused on in-hospital births. Recent publications affirm the importance of universal screening, including for out-of-hospital births. No published data describe CCHD screening rates for out-of-hospital births. METHODS Licensed midwives in Washington state were surveyed regarding their current CCHD screening practices, volume of births attended annually, and typical newborn follow-up practices. For those who indicated they were screening, additional information was obtained about equipment used, timing of screening, and rationale for voluntarily initiating screening. For those who indicated that they were not screening, information regarding barriers to implementation was solicited. RESULTS Of the 61 midwives in our sample, 98% indicated they were aware of published guidelines recommending universal newborn screening for CCHD utilizing pulse oximetry. Furthermore, 52% indicated that they were screening for CCHD currently. Ten percent stated they do not intend to screen, whereas the remaining respondents indicated that they plan to screen in the future. The primary barriers to screening were the cost of pulse oximetry equipment and inadequate training in screening technique and interpretation. CONCLUSION Although voluntary implementation of CCHD screening by licensed midwives in Washington is increasing, it lags behind the implementation rates reported for in-hospital births.

Voluntary Implementation of Critical Congenital Heart Disease Screening in Washington Hospitals

OBJECTIVES To determine the extent of voluntary implementation of pulse oximetry screening for critical congenital heart disease (CCHD) in Washington. At the time of the study, there was no state legislative or regulatory mandate for CCHD screening in Washington. METHODS A Web-based survey was sent to the nurse manager or nurse educator of the well newborn unit at each of the 64 Washington hospitals with active delivery services in May and June 2013. Telephone follow-up was conducted for incomplete surveys. The survey assessed awareness and implementation of the recommendation, the protocol followed, staffing and equipment issues, pediatric cardiology support services, and the availability of prostaglandin E1 at each birth hospital. A brief follow-up was performed in December 2013 for hospitals not screening at the time of the initial survey. RESULTS As of December 2013, 89% of Washington birth hospitals (accounting for 91.4% of births) had active CCHD screening programs. The recommended protocol is used in 95% of screening hospitals. Screening programs were instituted in 96% of hospitals using existing staff, but 52% of hospitals purchased new durable equipment to institute screening. CONCLUSIONS There has been widespread voluntary adoption of pulse oximetry screening for CCHD in Washington birth hospitals. Quality assurance efforts are needed to assess the quality of the screening programs.

The role of regional prenatal cardiac screening for congenital heart disease: A single center experience

BACKGROUND Accurate prenatal diagnosis of congenital heart disease (CHD) allows for appropriate delivery and postnatal management. Geographic constraints limit access to fetal cardiology subspecialists. In our approach, general pediatric cardiologists are first line in regional prenatal cardiac screening. We aim to demonstrate the utility of this approach in diagnosing CHD requiring cardiac interventions within 30 days of life. METHODS This is a retrospective review of fetal echocardiograms performed at Seattle Childrens Hospital regional cardiology sites (SCH-RC) from December 2008 to December 2015. Referrals to Seattle Childrens Hospital Prenatal Program (SCH-PNP) were evaluated for referral timing, indication, diagnostic accuracy, and postnatal care. Diagnostic accuracy was determined using the initial postnatal echocardiogram as the gold standard. Major discrepancy was defined as one resulting in change in surgical management. RESULTS Of 699 fetuses evaluated at regional sites throughout Washington and Alaska, a small subset (n = 48; 6.9%) required referral to SCH-PNP. Need for relocation was confirmed in 31 subjects, of which 27 required cardiac intervention within 30 days of life. Of those not referred to SCH-PNP (n = 643, 91.9%), none required neonatal cardiac intervention. There were 22 regional diagnostic discrepancies (31% major, 7% minor). Referral to SCH-PNP improved diagnostic accuracy (2% major, 0% minor). CONCLUSIONS Regional prenatal cardiac screening demonstrated 100% sensitivity and 98.9% specificity for identifying critical CHD. Utilizing regional pediatric cardiologists as first line in prenatal screening in geographically remote regions may improve access to care and outcomes in neonates with critical CHD while improving resource utilization.

Is routine preoperative transthoracic echocardiography necessary in newborns with myelomeningocele

Objective:Congenital heart disease (CHD) is common in newborns with myelomeningocele. Echocardiography before neonatal back closure has been recommended. Its utility in the era of prenatal diagnosis is unclear.Study Design:We reviewed all newborns with myelomeningocele evaluated by preoperative echocardiography at our institution over 11 years.Result:Seventy-six successive newborns were identified. Ninety-one percent were prenatally diagnosed with myelomeningocele. In all, 1% had critical, 12% critical or non-critical and 22% critical, non-critical or possible CHD. The single case of critical CHD was both prenatally diagnosed and clinically identifiable.Conclusion:The prevalence of CHD in newborns with myelomeningocele is increased compared with the general population; however, critical disease is uncommon. We propose preoperative echocardiography is unnecessary when the myelomeningocele is prenatally diagnosed, antenatal cardiac screening is complete and normal, and the newborn is clinically well.

Outcomes and Predictors of Perinatal Mortality in Fetuses With Ebstein Anomaly or Tricuspid Valve Dysplasia in the Current Era

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.

Outcomes and Predictors of Perinatal Mortality in Fetuses With Ebstein Anomaly or Tricuspid Valve Dysplasia in the Current EraCLINICAL PERSPECTIVE: 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.

Outcomes and Predictors of Perinatal Mortality in Fetuses With Ebstein Anomaly or Tricuspid Valve Dysplasia in the Current EraCLINICAL PERSPECTIVE

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.