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

Abstract

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.

Risk of perinatal deaths for fetuses and early newborns with congenital heart defects

“…Among the main CHD subtypes, the proportion of perinatal death with VSD and ASD is relatively low, while the proportion of perinatal death with TOF and AVSD is relatively high. However, most perinatal deaths with CHD are electively terminated, the proportions of perinatal deaths re ecting the severity of CHD subtypes [12,[23][24][25]. A critical signi cance of this study is to describe the proportions of perinatal deaths with CHD subtypes, which may have been less involved in previous studies.…”

The management of newborns with critical congenital heart diseases prior to transport to a cardiac center

“…By the end of the pregnancy, the fetus will have huge pulmonary arteries causing significant bronchomalacia and compression on the airways. If they are born with severe airway obstruction, their management is challenging and the prognosis is not favorable [22]. They should undergo CT angiography to evaluate the size of the pulmonary artery and the degree of bronchial obstruction.…”

Predicting High-Risk Fetal Cardiac Disease Anticipated to Need Immediate Postnatal Stabilization and Intervention with Planned Pediatric Cardiac Operating Room Delivery

“…21 For other prenatally diagnosed CD at risk of ACRI, we assessed for general and lesion-specific features as elaborated in Table 1, including presence/absence of hydrops, cardiac size, combined cardiac output, and evidence of biventricular dysfunction as previously reported. [2][3][4][14][15][16][17][18] Where available, noncardiac data was acquired through ultrasound and fetal magnetic resonance imaging for extracardiac pathology and features of airway obstruction (TOF/APV) 16 or lung parenchyma suggestive of 'nutmeg lung' (HLHS with RAS and obstructed total anomalous pulmonary venous drainage (TAPVD)). 22 Pediatric Cardiac Operating Room Delivery Planning: For those fetuses deemed at highestrisk of ACRI (LOC 4), expected to require an intervention at <2 hours and/or considered at exceptionally high-risk during inter-hospital transport, CS delivery in the PCOR was recommended with the cardiac team on standby to carry out acute neonatal care.…”

“…12,13 Other critical CD lesions have also been recognized as potentially lifethreatening at birth. [14][15][16][17][18] With this knowledge, FE-based algorithms have evolved to guide perinatal management, including mode and location of delivery. Only two existing studies report promising results of how this approach could ultimately improve the clinical outcomes of these challenging patients 3,19 ; however further data are needed that explore approaches with different types of multidisciplinary infrastructure and geographical challenges faced by many pediatric cardiac programs internationally.…”