A POPULATION-BASED STUDY OF CONGENITAL DIAPHRAGMATIC-HERNIA IN UTAH -1988-1994

Objective: To define the natural history of congenital diaphragmatic h ernia and to determine the potential impact of fetal therapy. Methods: This retrospective case series consisted of all fetuses and neonates with congenital diaphragmatic hernia born between 1988 and 1994 in the state of Utah that could be identified through genetic counseling ref errals, delivery logs, and neonatal intensive care unit discharge diag nosis records. Maternal and neonatal hospital records were reviewed fo r antepartum, intrapartum, and postpartum variables. Based on existing recommendations, fetuses who might have benefited from fetal therapy were identified. Results: Ninety-six cases were identified, for a freq uency of one case in 2710 live births per year. Five pregnancies were terminated before 21 weeks' gestation. The overall survival rate exclu ding these five cases was 58.2%. Among the remaining 91 cases, surviva l was significantly better for infants diagnosed in the neonatal perio d than for those diagnosed prenatally (78% Versus 35%; P < .001). The frequency of associated anomalies was similar for antepartum and postp artum cases. Sixty-two percent of nonsurvivors had some type of other anomaly, but no pattern was apparent. There were no accurate prenatal predictors for lethal pulmonary hypoplasia, but preterm birth and the presence of severe cardiac anomalies were predictors of neonatal death . Only two of 96 fetuses would have potentially benefited from fetal t herapy. Conclusion: The outcome of infants with congenital diaphragmat ic hernia is worse with preterm birth and if diagnosed prenatally. The survival rate we found was better than that reported in earlier studi es, suggesting improved perinatal and neonatal management. fetal thera py based on current eligibility criteria would have a minimal impact o n survival of fetuses with congenital diaphragmatic hernia.