An evaluation of the role of concomitant anomalies on the outcomes of fetuses with congenital diaphragmatic hernia.

PURPOSE: The purpose of this study was to evaluate the impact of various types of associated anomalies on CDH mortality and morbidity.

METHODS: All CDH patients at a tertiary care center from January 2004 to January 2014 were reviewed retrospectively. Isolated CDH was defined as CDH without any associated anomalies. Cardiac anomalies were stratified into minor and major based on the Risk Adjustment for Congenital Heart Surgery-1 (RACHS-1) scoring system. Other anatomic anomalies requiring intervention in the perinatal period were classified as major anomalies. The outcomes of interest were 6-month mortality as well as pulmonary and gastrointestinal morbidity.

RESULTS: Of 189 CDH patients, 93 (49%) had isolated CDH. Others had: cardiac anomalies alone (n=47, 25%), genetic anomalies (n=28, 15%), structural anomalies alone (n=18, 10%), and both cardiac and genetic anomalies (n=20, 11%). Fifty (26.5%) patients were dead before six months of age. Mortality rate at 6months was higher in patients with genetic and major cardiac anomalies. A major cardiac anomaly was independently associated with a 102-fold increased risk of mortality at 6months (95%CI: 3.1-3402). Pulmonary morbidity was increased in patients with genetic, major cardiac, and major structural anomalies, while gastrointestinal morbidity was higher in patients with major structural anomalies alone.

CONCLUSION: Major cardiac and genetic anomalies were associated with increased 6-month mortality in CDH patients. However, the association with minor cardiac anomalies and/or structural anomalies did not affect mortality and morbidity of CDH patients. The presence of minor anomalies should not adversely impact their perinatal management or consideration for in-utero therapy.