Prenatal diagnosis of Aicardi syndrome based on unique pattern of ultrasonographic findings allowing adequate prenatal counseling and a multidisciplinary care approach with early postnatal intervention: a case report series
ePoster
Authors: Salimah Navaz Gangji, Eastern Virginia Medical School Elena Sinkovskaya, Eastern Virginia Medical School Karla Bermudez Wagner, Eastern Virginia Medical School
Aicardi syndrome (AS) is a severe neurodevelopmental disorder that has been described by a classic triad of agenesis of the corpus callosum, infantile spasms, and chorioretinal abnormalities. All case reports in the literature involve a postnatal diagnosis of the syndrome, made by symptoms and imaging, with patients presenting at variable ages in infancy. Because one of the main findings of the original triad of symptoms is infantile spasms, in-utero diagnosis has remained difficult. Thus, earlier detection and establishment of a clear pattern of ultrasonographic findings of this disorder will allow providers to refer patients at an earlier stage to tertiary centers where further imaging can be performed and where a multidisciplinary care approach will help to optimize the care in the prenatal and postnatal period. More importantly, patients will be able to make an informed-decision about different options of treatment in pregnancy. Here we present our findings of three separate cases of prenatal diagnosis of AS based solely on unique ultrasonographic findings within the same academic institution. This unique case series provides information about abnormal findings in the early first and second trimesters and further delineates the prenatal ultrasound finding of this severe neurological condition.