Background: Prenatal diagnosis of cytomegalovirus (CMV) infection using amniocentesis is important for decision making of both management of the pregnancy and planning of treatment and follow-up of the newborn. Recently, congenital cytomegalovirus (cCMV) infection was reported in spite of a negative amniotic-fluid prenatal analysis for CMV. However, the question of whether this phenomenon represents low sensitivity of the test or late development of fetal infection (after the time of the amniocentesis) was not answered. Moreover, the outcome of these negative prenatal diagnosis cases is yet unanswered.
Objective: To compare the outcome of infants with cCMV born after negative amniocentesis to those born after positive amniocentesis for CMV, in two international referral centres for cCMV.
Methods Data of all infants with cCMV infection between 2006 and 2015, who were born after maternal primary infection during pregnancy and were followed in two pediatric centres were reviewed. Infant outcome after birth of symptomatic vs. asymptomatic disease was compared between infants born after negative amniocentesis (study group) and those with a positive amniocentesis (control group) in a 1:2 ratio.
Results Amniocentesis was performed in 301 pregnancies of our cohort of infants with cCMV and was negative for CMV in 47 (15.6%). Most (67.4%) primary infections were either periconceptional or occurred in the first trimester of pregnancy. There were fewer symptomatic cCMV neonates in the study group than in the control group (4.3% vs. 25%, p<0.001). Hearing impairment at birth was also less frequent in the study group (2.2% vs. 17.4%, p=0.012). None of the children in the study group had neurologic sequelae at long-term follow up compared to 13 (14.1%) in the control group (p<0.001).
Conclusions While negative amniocentesis does not exclude cCMV, infants with cCMV born after negative amniocentesis seldom present at birth with clinical symptoms or cerebral ultrasound features, and usually mild ones. These children also have a very good long-term outcome. Our findings support the theory of a late development of fetal infection, after the time of the amniocentesis.
