Implications of Genetic Variants in Cerebral Palsy

Abstract

To the Editor One of the biggest fears of parents and obstetrical staff who care for patients who are giving birth is the risk of delivering a child who develops neonatal encephalopathy, neurological impairment, or cerebral palsy (CP). Besides the resultant medical, emotional, and personal hardships, there may be associated allegations of improper care that contribute disproportionately to obstetrical litigation and costs. A key element in every malpractice case having CP is whether impairment resulted from actions taken during labor and delivery or was predetermined by genetic causes, irrespective of labor management.Overly simplistically, plaintiff attorneys routinely argue that virtually none of such cases was genetic in origin, while, conversely, defense attorneys suggest that essentially all cases were. The disconnect has greatly contributed to protracted litigation with experts of varying degrees of professional stature espousing completely contradictory opinions. Gonzalez-Mantilla et al 1 have rigorously collated the literature and reported that whole exome sequencing (WES) studies found abnormalities in 31% of CP cases. In an accompanying editorial, Van Eyk et al 2 suggested that WES should be performed for all CP cases. We completely agree.Our own work has focused on improving interpretation of electronic fetal monitoring through a developing metric (the Fetal Reserve Index) to improve care and reduce risks. 3,4 Our assessment suggests that about one-third of CP cases are likely of genetic origin, 3,4 a calculation virtually identical to that of Gonzalez-Mantilla. However, these estimates will not satisfy either side in the medicolegal arena. Further, we believe that some infants with nongenetic CP could have been damaged in the antenatal period before labor, which might be ameliorated if discovered and addressed earlier.The American College of Obstetricians and Gynecologists and other organizations, including the American Academy of Pediatrics, published a monograph in 2003 (M.I.E. was a contributing author). 5 As many as 90% of cases were thought to be predetermined. Unfortunately, some hospital administrators decided that it was not necessary to have experienced, ex-