Despite its confounding influence on modern birth defects surveillance, the impact of prenatal diagnosis will not disappear. On the contrary, advances in prenatal imaging may only serve to identify more ‘defects’ of unknown significance. Moreover, functional fetal imaging and geno- typing may evolve to allow better prenatal prognostication and hence case selection for future fetal therapies.42 In the
midst of all these potentially exciting developments, pediatric surgeons retain a key role: using the best available birth defects epidemiology, we may gradually learn which defects need what intervention and when. To achieve this, pediatric surgeons need to keep abreast of birth defects epidemiology and work collaboratively with other surgeons, perinatologists, obstetricians and public health physicians. As a model for such cooperative endeavors, the Children’s Cancer Leukemia Group (CCLG) is led by collaborating pediatric oncologists and surgeons: they achieve remarkably high recruitment rates of pediatric cancer cases into multicenter trials that are helping transform clinical management. A similar consor- tium approach to birth defects and their surgical correction may allow pediatric surgeons to retain a central role in this evolving field. As a beginning, the British Association of Paediatric Surgeons Congenital Anomalies Surveillance System (BAPS-CASS) and the National Perinatal Epidemiol- ogy Unit are undertaking an annual UK census of a selected birth defect for each year. Hence, as birth defects emerge as the leading cause of infant mortality, such projects will establish how pediatric surgeons can work together to understand these human healthcare problems.
Figure 4.2 Birth defect registries and disease severity. Birth defect registries generally do not distinguish anomaly severity (despite implications for service provision and outcome measures).
This gap assessment x-ray for pure esophageal atresia (EA) shows the tip of the oral tube pressed down (upper arrow) and refluxed contrast in the distal pouch (lower arrow). Treated by the author with a single-stage ‘Bax’ jejunal interposition at 7 weeks of age, this anomaly is registered just like the more common EA with distal fistula, despite the very different management and resources required.
The challenge for modern pediatric surgery 43
ACKNOWLEDGMENTS
The author is supported by a Medical Research Council New Investigator Fellowship.
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