Prenatal diagnosis of congenital cytomegalovirus infection

Objective: To assess prospectively the diagnostic reliability and prognosti c significance of prenatal diagnosis of cytomegalovirus (CMV) infection. Methods: One hundred ten pregnant women (four with twin pregnancies) with a risk of congenital CMV infection were investigated. Prenatal diagnosis was carried out by amniocentesis and fetal blood sampling (n = 75) or amniocen tesis alone (n = 35). Serial ultrasonographic examinations were performed f rom time of referral until pregnancy end. All infected neonates were given long-term follow-up. Autopsy was performed in all cases of termination of p regnancy. Results: Nearly 23% (26 of 114) of fetuses were infected and prenatal diagn osis was positive in 20 cases. Sensitivity of prenatal diagnosis was 77% an d specificity 100%. In eight cases, parents requested termination of pregna ncy on the basis of abnormal ultrasonographic findings and/or biologic abno rmalities in fetal blood. In 12 cases, parents decided to proceed with the pregnancy. In this group, one intrauterine and one neonatal death were obse rved. In one case, prenatal diagnosis revealed an abnormal cerebral sonogra phy and the infant had bilateral hearing loss at birth. In 15 cases (nine p ositive and six false-negative prenatal diagnoses), no apparent lesion was present at birth, nor did it develop during the follow-up period (mean 31 m onths). In 88 (77.2%) of 114 infants, no evidence of vertical transmission was found during the pre- or postnatal period. Conclusion: Prenatal diagnosis provides the optimal means for both diagnosi ng fetal infection (amniocentesis) and identifying fetuses at risk of sever e sequelae (ultrasound examination, fetal blood sampling), thus allowing pr oper counseling. (C) 2001 by The American College of Obstetricians and Gyne cologists.