Congenital Diaphragmatic Hernia Outcomes in a Population with a High Incidence of Associated Anomalies

Background: Congenital diaphragmatic hernia (CDH) is a complex congenital condition with significant morbidity and mortality. The morbidity and mortality are increased when CDH is associated with other anomalies. Reported survival varies between centers but is mostly around 70%. The rates of termination of pregnancy (TOP), however, are high in many of these centers, especially for pregnancies with CDH and other anomalies. In this study, we report the outcomes of a population of CDH infants with a high incidence of associated anomalies but a low rate of TOP, and we compare these outcomes to published literature.

Methods: The data from CDH-Qatar (CDH-Q) registry (established as a part of CDH-Q program at Sidra Medicine), between April 2018 and December 2020, was compared to the published data by the CDH study group (CDHSG), the European Surveillance of congenital anomalies (EUROCAT), Florida Birth Defects Registry, and other centers.

Results: During the study period, 35 infants with CDH were treated at Sidra Medicine, with a median birth gestational age of 38 weeks (IQR 36-39) and Birth Weight of 2.78 kg (IQR 2.22-3.17). 27 infants (77%) were inborn, and 30 infants (86%) were diagnosed prenatally. None of the prenatally diagnosed cases resulted in TOP. A unique aspect of CDH-Q is the high rates of infants with associated congenital heart disease (23%), genetic abnormalities (26%), and major congenital anomalies (46%), as these rates are higher than what was reported in literature. Despite that, CDH-Q survival rates are similar to those reported in literature: Overall survival to home discharge is 69%, with higher survival among infants who were actively resuscitated at birth (73%), infants who underwent surgical repair (80%), and infants with isolated CDH (79%).

Conclusion: To our knowledge, CDH-Q is the first and only dedicated program for treatment of CDH in the Middle East. Considering the unique patient population with low incidence of TOP and higher incidence of genetic and congenital anomalies, the outcomes of CDH-Q are similar to published literature. Establishing a CDH registry for the Middle East would be beneficial to study and compare the characteristics and outcomes of CDH in this unique patient population.