Perinatal and Infant Outcomes of Prenatal Diagnosis of Heterotaxy Syndrome (Asplenia and Polysplenia)

Abstract

Patients with heterotaxy syndrome (HS) have a range of anomalies and outcomes. There are limited data on perinatal outcomes after prenatal diagnosis. To determine the factors influencing perinatal and infant outcomes, we analyzed prenatal and postnatal variables in fetuses with HS from 1995 to 2011. Of 154 fetuses with HS, 61 (40%) had asplenia syndrome (ASP) and 93 (60%) had polysplenia syndrome (PSP). In the ASP group, 22 (36%) patients were elected for termination of pregnancy, 4 (10%) had fetal death, and 35 of 39 (90%) continued pregnancies were live born. In the PSP group, 12 (13%) patients were elected for termination of pregnancy, 5 (6%) had fetal death (4 with bradyarrhythmia), and 76 of 81 (94%) continued pregnancies were live born. Bradyarrhythmia was the only predictor of fetal death. In the live-born ASP group, 43% (15 of 35) died, 7 because of pulmonary vein stenosis, 4 postoperatively, and 4 because of noncardiac causes. In the live-born PSP group, 13% (10 of 76) died, 5 postoperatively, 2 from bradyarrhythmia, 1 from a cardiac event, and 2 from noncardiac causes. Pulmonary vein stenosis and noncardiac anomalies were independent risk factors for postnatal death. Only 8% of ASP patients achieved biventricular circulation, compared with 65% of PSP patients. In the live-born cohort, the 5-year survival rate was 53% for ASP and 86% for PSP. In conclusion, most PSP patients are currently alive with biventricular circulation in contrast with few ASP patients. Bradyarrhythmia was the only predictor of fetal death. Pulmonary vein stenosis and noncardiac anomalies were predictors of postnatal death.

Extracardiac anomalies in prenatally diagnosed heterotaxy syndrome

“…However, most patients are asymptomatic, and therefore routine screening may not be necessary as long as close follow‐up is carried out, and prompt investigation is performed for those that develop gastrointestinal symptomatology. Of note, one of the five postnatal deaths in the series of Escobar‐Diaz et al that performed a general screening for malrotation was due to volvulus with intestinal necrosis, while the five cases of malrotation with bowel obstruction including three with volvulus in our series were all diagnosed in utero , which led to timely neonatal intervention and a favorable outcome.…”

“…In contrast, the incidence of extracardiac malformations, not involving the spleen, in our study was markedly lower (15.8%) and neither their presence in general nor individual extracardiac anomalies had a statistically significant impact on survival. This lower incidence of extracardiac anomalies is mainly due to the higher rate of malrotation in the study of Escobar‐Diaz et al in which general screening for this anomaly was performed. In our centers, no routine workup for malrotation was performed, and therefore only complicated cases came to our attention.…”

“…A recent largescale prenatal study from Escobar‐Diaz et al reviewed 154 cases of prenatally diagnosed heterotaxy syndrome from a single center. Non‐cardiac anomalies were described in 69 (62.2%) of the 111 liveborn patients, most frequently malrotation (42.3%), genetic defects (5.4%), biliary atresia (2.7%), central nervous system anomalies (2.7%), diaphragmatic hernia (1.8%) and cystic pulmonary airway malformation (1.8%).…”

Predictors of Mortality in Patients with Isomerism

“…These have included obstructed pulmonary venous connection, anomalous pulmonary venous connection, functionally univentricular circulation, congenital heart block, having noncardiac anomalies, mild or greater atrioventricular valvar regurgitation, having a common atrioventricular junction, aortic coarctation, need for neonatal surgery, and right ventricular outflow tract obstruction [19,[28][29][30][31][32][33][34][35][36][37][38][39]. None of these features, however, proved to be associated with mortality in our analysis.…”

Utility of fetal magnetic resonance imaging in assessing the fetus with cardiac malposition

“…Of the 13 cases of polysplenia identified by fetal US, there were six (46%) confirmed by direct splenic visualization on fetal MRI and one additional case that could not be classified by US. This is relevant for prenatal counseling given that outcome analyses have demonstrated worse outcomes when fetal diagnoses of heterotaxy syndrome are included, suggesting that prenatally diagnosed cases represent more severe disease . Additionally, because outcomes for prenatally diagnosed fetuses are affected by subtype, identification is even more important.…”