Prenatal diagnosis of congenital cytomegalovirus infection

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Abstract

Objective: To assess prospectively the diagnostic reliability and prognostic 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 amniocentesis alone (n = 35). Serial ultrasonographic examinations were performed from time of referral until pregnancy end. All infected neonates were given long-term follow-up. Autopsy was performed in all cases of termination of pregnancy.

Results: Nearly 23% (26 of 114) of fetuses were infected and prenatal diagnosis was positive in 20 cases. Sensitivity of prenatal diagnosis was 77% and specificity 100%. In eight cases, parents requested termination of pregnancy on the basis of abnormal ultrasonographic findings and/or biologic abnormalities in fetal blood. In 12 cases, parents decided to proceed with the pregnancy. In this group, one intrauterine and one neonatal death were observed. In one case, prenatal diagnosis revealed an abnormal cerebral sonography and the infant had bilateral hearing loss at birth. In 15 cases (nine positive and six false-negative prenatal diagnoses), no apparent lesion was present at birth, nor did it develop during the follow-up period (mean 31 months). 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 diagnosing fetal infection (amniocentesis) and identifying fetuses at risk of severe sequelae (ultrasound examination, fetal blood sampling), thus allowing proper counseling.

Section snippets

Materials and methods

One hundred ten pregnant women, including four with twin pregnancies, were referred for prenatal diagnosis of CMV infection between August 1989 and June 1998. All cases were referred following CMV serologic screening.

The women were divided into four groups. Group A included 51 patients with documented maternal seroconversion during pregnancy. Group B included 33 patients with documented maternal seroconversion in the periconception period. Group C comprised 16 patients with possible

Results

The mean gestational age at the time of prenatal diagnosis was 23.5 weeks (range 17–37 weeks). The time lapse between the diagnosis of maternal infection and fetal sampling varied from 4 to 19 weeks.

Prenatal diagnosis (by positive viral isolation in the AF) allowed the demonstration of CMV infection in 20 of 114 fetuses. All diagnoses of fetal infection were obtained within 24 hours by using the early viral antigen detection in AF and were confirmed by culture. Fetal blood sampling was

Discussion

In our study, the sensitivity of prenatal diagnosis was 77% with a specificity of 100%. Our earlier report, and those by other authors, described a sensitivity of 81–100% in smaller series.9, 14, 16, 17, 18

The overall rate of vertical transmission was 22.8%, but the rate was higher for documented primary maternal infection (41%). No case of positive fetal blood-specific IgM or fetal blood culture with negative AF culture was recorded. Nor was any complication observed after fetal blood sampling

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