Objective To evaluate the outcome of infants with congenital cytomegalovirus (CMV) infection and normal fetal imaging.

Design Retrospective cohort study.

Setting Tertiary paediatric medical centre.

Patients 98 infants born to mothers with primary CMV infection in the first and second trimesters (diagnosed by positive amniotic fluid findings) and normal fetal imaging.

Methods Initial evaluation included confirmatory urine culture, complete blood count, liver and kidney function tests, funduscopy, brain ultrasound and hearing test. Follow-up included periodic neurological and developmental evaluation, hearing tests until age 5 and Bayley-III Developmental Scale (in some patients).

Main outcome measures The presence and rate of sequelae of congenital CMV.

Results 52 (53.1%) infants received early antiviral treatment for central nervous system symptoms or signs, mainly lenticulostriatal vasculopathy on postnatal ultrasonography (88.5%). Sensorineural hearing loss was found on first examination in 16 infants (25 ears), of whom 10 also had cranial ultrasound findings; another five with late-onset hearing loss were also treated. The median follow-up time was 32 (12–83) months. Most infants with moderate and severe hearing loss were infected in the first trimester (10 vs 2, p=0.053). At the last assessment, eight children (10 ears) still had hearing loss, including two with bilateral loss who underwent a cochlear implant. The mean Bayley-III score was 102.6±10.3 (range 85–127). All 98 children attended regular educational institutions.

Conclusions Congenital CMV infection acquired from primary maternal infection with normal fetal imaging is associated with a high rate of subtle signs and symptoms after birth. Overall, intermediate-term outcome is good with a low rate of sequelae.