Retrospective identification of congenital cytomegalovirus infection using dried blood samples - missed opportunities and lessons.

BACKGROUND

Congenital cytomegalovirus (cCMV) is the most common congenital infection in children, with a potential to cause neurodevelopmental delay and sensorineural hearing loss. Not only are most infected newborns asymptomatic at birth, even those who are symptomatic are not always diagnosed in time. Newborn dried blood-spot (DBS) specimens collected routinely at birth, have been recently used for retrospective diagnosis of cCMV. Our objective was to assess the clinical characteristics of children retrospectively diagnosed with cCMV using DBS polymerase chain reaction (PCR) testing, and report whether an early diagnosis could have been achieved.

METHODS

A retrospective data collection study comprising all infants followed at a dedicated cCMV clinic diagnosed between 2014 and 2019 by the DBS PCR test RESULTS: During the study period, 436 children were born with cCMV and 19 (4.4%) were diagnosed with cCMV by the DBS PCR test. 9/19 were diagnosed before the age of 3 months; 3 of them were diagnosed after the neonatal period, although significant findings suggestive of cCMV were present at birth. 10/19 were diagnosed between 3 and 36 months of age; 6 of these 10 exhibited findings suggestive of cCMV at birth . In total, 8/19 children suffered from long-term sequela, including severe hearing loss or profound developmental delay.

CONCLUSIONS

We report the numerous missed opportunities for early diagnosis and treatment of children with cCMV. Universal newborn screening for cCMV may have prevented poor hearing and developmental outcomes in 8 of the 19 children described herein.