Prenatal diagnosis of congenital cytomegalovirus infection in 115 cases: a 5 years' single center experience

Objective The objective of this study is to investigate the diagnostic value of invasive prenatal diagnosis (PD) of congenital cytomegalovirus (CMV) infection from amniotic fluid (AF) and fetal blood (FB). Methods A retrospective study was conducted on 115 pregnancies with CMV primary infection. A total of 111 AF and 106 FB samples were investigated for various virological and non-virological markers. Detailed ultrasound examinations were performed at time of PD. Results Overall sensitivity of CMV PCR in FB (75.6%; 95%CI 60–87) and AF (72.7%; 95%CI 57–85) was comparable. In women with amniocentesis >8 weeks between seroconversion and PD, we did not observe significant differences between amniocentesis performed ≥17 + 0 (sensitivity 90.9%; 95%CI 71–99) and ≥20 + 0 gestational weeks (sensitivity 90.0%; 95%CI 68–99). Virological markers in FB were higher in symptomatic compared with asymptomatic fetuses (p  14 mg/L were more frequently found in fetuses with severe ultrasound abnormalities compared with fetuses with no or mild abnormalities (p < 0.001). Conclusion Optimal timing of amniocentesis in women with primary infection in early gestation should be reevaluated in a prospective study. Analysis of FB markers may be beneficial in the individual management of pregnant women with confirmed congenital CMV infection. © 2017 John Wiley & Sons, Ltd.