PT  - JOURNAL ARTICLE
AU  - Chung, Pui Khi
AU  - Schornagel, Fleurtje
AU  - Oudesluys-Murphy, Anne Marie
AU  - de Vries, Linda S
AU  - Soede, Wim
AU  - van Zwet, Erik
AU  - Vossen, Ann
TI  - Targeted screening for congenital cytomegalovirus infection: clinical, audiological and neuroimaging findings
AID  - 10.1136/archdischild-2022-324699
DP  - 2023 May 01
TA  - Archives of Disease in Childhood - Fetal and Neonatal Edition
PG  - 302--308
VI  - 108
IP  - 3
4099  - http://fn.bmj.com/content/108/3/302.short
4100  - http://fn.bmj.com/content/108/3/302.full
SO  - Arch Dis Child Fetal Neonatal Ed2023 May 01; 108
AB  - Objective To evaluate clinical, audiological and neuroimaging findings in a cohort of infants diagnosed with congenital cytomegalovirus (cCMV) infection after failure at newborn hearing screening.Methods A prospective observational study in the Netherlands, using the existing newborn hearing screening infrastructure for well babies. Between July 2012 and November 2016, cytomegalovirus (CMV) PCR testing of neonatally obtained dried blood spots (DBS) was offered to all infants who failed newborn hearing screening. Clinical, neuroimaging and audiological data were collected.Results DBS of 1374 infants were successfully tested and 59 were positive for CMV (4.3%). Data of 54 infants were retrieved. Three were small for gestational age and six had microcephaly. Forty-eight (89%) had sensorineural hearing loss (SNHL), of whom half had unilateral SNHL. In both unilaterally and bilaterally affected children, the majority of the impaired ears had severe or profound hearing loss. Neuroimaging abnormalities were found in 40 of 48 (83%) children who had evaluable cranial ultrasound and/or cerebral MRI. The abnormalities were mild in 34, moderate in 3 and severe in 3 infants. The degree of SNHL and the severity of neuroimaging abnormalities were found to be correlated (p=0.002).Conclusions The yield of targeted cCMV screening following newborn hearing screening failure was eight times higher than the estimated national birth prevalence of cCMV. The majority of this cohort of infants with clinically unsuspected cCMV disease had confirmed SNHL, neuroimaging abnormalities and lower than average birth weights and head circumferences. Newborns who fail newborn hearing screening should be tested for CMV to ensure appropriate clinical, neurodevelopmental and audiological follow-up.Data are available upon reasonable request. A dataset was generated and analysed and would be available upon reasonable request directly to the authors.