Inconsistent Provider Testing Practices for Congenital Cytomegalovirus: Missed Diagnoses and Missed Opportunities

Abstract

Newborn congenital cytomegalovirus (cCMV) screening programs have been found to increase the rates of early diagnosis and treatment. In North America, newborn cCMV screening programs have not been widely implemented, leaving healthcare providers to rely on clinical suspicion alone to prompt testing. This study sought to examine healthcare providers’ cCMV testing practices at a quaternary children’s hospital. A retrospective review of the electronic health record was completed for eligible infants over a six-year period. Bivariate calculations and analyses were performed. Between 2014 and 2019, a total of 40,091 infants were cared for at the study institution, of which 178 were tested for cCMV and 10 infants were diagnosed with cCMV. Isolated small-for-gestational age was the most common indication (53/178) to prompt testing. Overall, the cCMV testing rate was 4.5 tests per 1000 infants, with a resulting diagnostic prevalence of 0.2 cases per 1000 infants, which is 15-fold lower than the expected prevalence. Providers relying on clinical suspicion alone are infrequently testing infants for cCMV, resulting in missed diagnoses and missed opportunities for treatment. Systematic cCMV screening practices may improve diagnosis, treatment, and childhood outcomes.

The Psychosocial Impact of Congenital Cytomegalovirus on Caregivers and Families: Lived Experiences and Review of the Literature

“…Many children born with CMV will never receive a cCMV diagnosis [ 2 ]. Among those who are diagnosed, many of them will be identified only after they go through what has been called a “diagnostic odyssey” [ 57 , 58 ].…”

“…Congenital cytomegalovirus (cCMV) infection is a common cause of sensorineural hearing loss (SNHL) and neurodevelopmental disabilities in childhood, affecting 0.5% and 1.4% of live births in high-income and low-to-middle-income countries, respectively [ 1 ]. Due to its often clinically inapparent presentation, infants born with cCMV often go undiagnosed, and miss opportunities for early intervention and management [ 2 ]. Newborn cCMV screening programs have become more common over the last decade, owing to advances in testing technology and public health awareness, resulting in earlier diagnosis and treatment for conditions such as hearing loss [ 3 ].…”

Healthcare costs of congenital cytomegalovirus (cCMV) disease in infants during the first two years of life: a retrospective German claims database analysis

“…The study cohort had information on 54 infants with recorded cCMV diagnoses out of 282,582 births, which amounts to a birth prevalence of 0.02%. As other sources suggest that the actual birth prevalence of cCMV in Germany may be between 0.2% and 0.5% [ 2 ], this gap may indicate considerable underdiagnosis in current practice [ 13 ]. Therefore, the derived cost estimates might only be the tip of the iceberg, leaving a larger dark figure of children with cCMV, potentially due to less severe symptoms or misdiagnosed etiology.…”

“…In this paper we present incremental healthcare costs of infants with cCMV compared to infants without cCMV. Due to challenges in retrospective identification of infants with cCMV [ 10 ], and special challenges concerning identification of cCMV in administrative claims databases, such as undercoding of cCMV [ 11 – 13 ], we developed two definitions for infants with cCMV. By comparing different definitions of cCMV and control cohorts, we aimed at providing a plausible span for cCMV-related healthcare costs in infants with recorded cCMV diagnosis from the perspective of the SHI in Germany.…”