EP04.16: Perinatal outcome in fetuses with heterotaxy syndrome

Abstract

To estimate the perinatal outcome in relation to the prognosis of fetuses with heterotaxy syndrome. All fetuses diagnosed as having heterotaxy syndrome and managed at our hospital between 2009 and 2016 were evaluated in this study. Cases delivered at other hospital were excluded. We compared clinical characteristics such as preterm delivery, delivery mode, cardiac defects, complete atrioventricular block, and extracardiac anomalies between the infants who survived and those who did not survive the first year of life. During the study period, 26 fetuses with heterotaxy syndrome were managed, of whom 24 were delivered at our hospital. No intrauterine fetal death occurred. Among the 24 live-born babies, the 1-month, 1-year, and 3-year survival rates were 88%, 61%, and 40%, respectively, in a median follow-up period of 57 months (8–88 months). Of the infants, 9 (38%) were premature and 6 (25%) were born by Caesarean delivery. Cardiac defects were diagnosed in all the fetuses, with a predominance of a single functional ventricle total anomalous pulmonary venous return, pulmonary stenosis, pulmonary atresia, and complete atrioventricular block in 12 (50%), 10 (42%), 9 (38%), 6 (25%), and 3 infants (13%), respectively. Furthermore, 5 infants (21%) had extracardiac anomalies. 9 infants did not survive the first year of life, with infection being the leading cause of death. Recurrent infections led to the cause of death in the neonatal period or infancy in 5 babies. Among the 5 babies, 4 had right isomerism with asplenia. Asplenia and polysplenia were both associated with postnatal death at 1 year (P = 0.008 and 0.035, respectively). The prognosis of patients with heterotaxy syndrome is still poor. The status of the spleen could be a predictor of survival at 1 year of life.