Abstract
Epilepsy is a neurological disorder affecting approximately 1% of the general population. There are over 1 million women with epilepsy in the US alone, making this an important issue for healthcare providers treating them. Previous research indicates that women with epilepsy have limited knowledge regarding pregnancy related issues, but that they have a strong desire for more information. While these studies indicate that genetic counseling can contribute to the reduction of adverse outcomes in pregnancies of women with epilepsy, there have been no recent efforts to characterize the role of prenatal genetic counselors with this population. In this study, we aimed to identify current practices used by clinical prenatal genetic counselors across the United States in counseling women with epilepsy about pregnancy. We collected data from 98 prenatal genetic counselors, recruited through the NSGC listserv, using an online anonymous survey. Over half (58%) of participants reported counseling more than 20 women with epilepsy of childbearing age. The vast majority of respondents (approaching 100%) reported discussing the balance between teratogenicity of AEDs and seizure control, and the detection of fetal anomalies. The vast majority (90%) of respondents also indicated that they typically discuss inheritance and recurrence risks with patients who have epilepsy. However, a minority of respondents (15%) reported that they discuss the molecular genetics of epilepsy and genetic testing options with patients, and only 36% of respondents indicated that they are comfortable discussing molecular genetics/testing with patients who have epilepsy. Our findings suggest that genetic counselors are lacking in awareness and/or understanding of molecular genetics and testing options with respect to epilepsy. Given that an assessment of possible genetic causes of epilepsy is an integral aspect of determining recurrence risk, it appears that there is a need for educating genetic counselors about the recent advances in epilepsy genetics.