title: 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.
authors.affiliation: Department of Cardiology, Boston Children's Hospital, Boston, Massachusetts; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts. Electronic address: mariaclaraescobar@yahoo.es.
authors.forename: Maria C
authors.initials: MC
authors.lastname: Escobar-Diaz
authors.affiliation: Department of Cardiology, Boston Children's Hospital, Boston, Massachusetts; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts.
authors.forename: Kevin
authors.initials: K
authors.lastname: Friedman
authors.affiliation: Sackler Medical School, Tel Aviv, Israel; Tel Aviv University, Tel Aviv, Israel.
authors.forename: Yishay
authors.initials: Y
authors.lastname: Salem
authors.affiliation: Department of Cardiology, Boston Children's Hospital, Boston, Massachusetts; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts.
authors.forename: Gerald R
authors.initials: GR
authors.lastname: Marx
authors.affiliation: Department of Pediatrics, Harvard Medical School, Boston, Massachusetts.
authors.forename: Brian T
authors.initials: BT
authors.lastname: Kalish
authors.affiliation: Department of Cardiology, Boston Children's Hospital, Boston, Massachusetts; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts.
authors.forename: Terra
authors.initials: T
authors.lastname: Lafranchi
authors.affiliation: Department of Cardiology, Boston Children's Hospital, Boston, Massachusetts; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts.
authors.forename: Rahul H
authors.initials: RH
authors.lastname: Rathod
authors.affiliation: Department of Cardiac Surgery, Boston Children's Hospital, Boston, Massachusetts; Department of Surgery, Harvard Medical School, Boston, Massachusetts.
authors.forename: Sitaram
authors.initials: S
authors.lastname: Emani
authors.affiliation: Department of Cardiology, Boston Children's Hospital, Boston, Massachusetts; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts.
authors.forename: Tal
authors.initials: T
authors.lastname: Geva
authors.affiliation: Department of Cardiology, Boston Children's Hospital, Boston, Massachusetts; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts.
authors.forename: Wayne
authors.initials: W
authors.lastname: Tworetzky
mesh_terms: D000328:Adult; D004452:Echocardiography; D005260:Female; D005313:Fetal Death; D005315:Fetal Diseases / Q000000981:diagnostic imaging* / Q000401:mortality; D005500:Follow-Up Studies; D059446:Heterotaxy Syndrome / Q000000981:diagnostic imaging* / Q000401:mortality; D006801:Humans; D007223:Infant; D007226:Infant Mortality / Q000639:trends; D007231:Infant, Newborn; D008297:Male; D008404:Massachusetts / Q000453:epidemiology; D011247:Pregnancy; D011256:Pregnancy Outcome; D011379:Prognosis; D012189:Retrospective Studies; D013997:Time Factors; D016216:Ultrasonography, Prenatal / Q000379:methods*