Neonates with congenital cytomegalovirus and hearing loss identified via the universal newborn hearing screening program

Background: Congenital cytomegalovirus (CMV) is the most common non-genetic cause of sensorineural hearing loss. Currently, there are no universal CMV screening programs for newborns or routine CMV testing of neonates with hearing loss in Australia, or elsewhere. Objectives: This study was undertaken to determine the prevalence of congenital CMV infection in infants with hearing loss identified using routine resources via the Australian universal neonatal hearing screening (UNHS) program. Study design: Infants who failed UNHS, referred for audiological testing and found to have permanent hearing loss were screened for CMV via PCR of urine and saliva. Congenital CMV was diagnosed if CMV was detected in infants ≤30 days of age, or using retrospective testing on stored new born screening cards, retrospective testing, or using clinical criteria if >30 days of age. The cohort was analyzed for time of testing and prevalence of congenital CMV determined. Results: The Audiology Department reviewed 1669 infants who failed UNHS between 2009 and 2016. Thirty percent (502/1669) had permanent hearing loss confirmed, of whom 336/502 were offered CMV testing. A definite (n = 11) or probable (n = 8) diagnosis of congenital CMV occurred in 19/323 (5.9%), of whom definite diagnoses were made in 4/19 on tests positive prior to 21 days of life, in 5/19 who were positive on neonatal blood screening card (NBSC) testing, in 2/19 who were positive on placental testing. In 8/19 probable diagnoses were made based on positive testing between ages 23–42 days and a consistent clinical syndrome in the absence of another cause for hearing loss after genetic and other testing. CMV testing mirrored the timing of audiological testing, with ∼40% completing audiology and CMV testing by 21 days, and 64% by 30 days. Conclusion: This program, utilizing existing clinical services identified probable congenital CMV in ∼6% of a large cohort failing UNHS with permanent hearing loss, of whom more than half were definite diagnoses. No additional assets were required to those already existing in this tertiary referral pediatric centre, whilst providing useful and timely data for clinical and audiological management.