Congenital diaphragmatic hernia: the neonatologist's perspective.

Abstract

1. Krisa Van Meurs, MD* 2. Billie Lou Short, MD† 1. 2. *Associate Professor of Pediatrics, Stanford University School of Medicine, Palo Alto, CA. 3. 4. †Professor of Pediatrics, George Washington University School of Medicine, Washington, DC. After completing this article, readers should be able to: 1. Delineate the studies used for prenatal diagnosis of congenital diaphragmatic hernia (CDH). 2. Describe prenatal therapies currently being investigated for the treatment of CDH. 3. Delineate the options available for ventilation of the neonate who has CDH. 4. Describe the potential complications that can be experienced by surviving infants who have CDH. During the past 10 years, significant changes have occurred in the diagnosis and management of congenital diaphragmatic hernia (CDH). The unsuspected birth of an infant who has CDH, the emergency transfer to a center where a pediatric surgeon and neonatologist are available, and the rush to the operating room for repair are a memory. Today we frequently provide prenatal counseling to parents of fetuses who are diagnosed as having CDH in utero, and a myriad of antenatal and postnatal therapies are available. Yet, the quest for therapeutic approaches that will optimize survival for the severely affected infant continues. Several new therapies on the horizon offer promise for the future. Most diaphragmatic hernias are posterolateral defects of the Bochdalek type, although Morgagni and pars sternalis hernias do occur. The incidence of CDH ranges from 0.08 to 0.45 per 1,000 births. The explanation for this variation in incidence most likely is underdiagnosis related to early deaths among neonates who are severely affected. Eighty-five percent of defects are left-sided, 13% are right-sided, and 2% are bilateral. Most studies have found an equal representation of genders, although a 1.25 male-to-female ratio was reported in one large population-based study (see Torfs et al in Suggested Reading). The incidence of anomalies associated with CDH is 20% to 50%. This range is related to differences in both the definition of anomalies and in patient selection, with higher incidences reported in population-based studies (Table⇓). CDH can be seen …