Objective: To determine the perinatal outcome of confirmed congenital cytomegalovirus (CMV) infection despite a negative prenatal amniotic-fluid analysis.
Methods: A retrospective cohort study of all neonates diagnosed with congenital CMV infection from January 2006 to December 2011 despite negative results on polymerase chain reaction and shell's vial assays of amniotic fluid. Data were collected on all neonates by physical examination, blood work-up (complete blood count, bilirubin, liver enzymes), fundoscopy, brainstem evoked response (BSER), and brain ultrasound, at birth and during follow-up in the neonatal period.
Results: The study group included 10 patients with primary congenital CMV infection during pregnancy. Follow-up time ranged from 1 to 62 months (median, 17 months). Four patients had consistently normal findings throughout follow-up, and three developed mild hepatosplenomegaly (1-32 months). In the remaining four offspring, brain ultrasound preformed after birth revealed lenticular striated vasculopathy (LSV) and in three of them the BSER test showed decreased hearing ability. Treatment with ganciclovir/valganciclovir was administered at age of 2 weeks, 2, 18, and 32 months. The BSER normalized after 9 and 12 months of treatment in two patients for whom follow-up data were available.
Conclusion: Negative findings on amniotic-fluid tests for CMV do not rule out neonatal infection with clinical morbidity.