PRENATAL DIAGNOSIS, VOL. 14 zyx 903-906 (1994) PRENATAL DIAGNOSIS OF CONGENITAL HUMAN CYTOMEGALOVIRUS INFECTION UMBERTO NICOLINI, ALESSANDRA zyxwvuts KUSTERMANN, BEATRICE TASSIS, ROBERTO FOGLIANI, ANDREA GALIMBERTI, ELENA PERCIVALLE*, MARIA GRAZIA REVELLO* AND GIUSEPPE GERNA* zyxw First Department of Obstetrics and Gynaecology, University of Milano, Italy; *Virus Laboratory, Institute of Infectious Diseases, IRCCS Policlinico S. Matteo, Pavia, Italy Received 20 September 1993 Revised 19 April 1994 Accepted April 1994 SUMMARY Fifteen fetuses at risk of congenital human cytomegalovirus (HCMV) infection underwent prenatal diagnosis at 16-30 weeks’ gestation by a combination of amniocentesis and fetal blood sampling. HCMV was isolated from the amniotic fluid in six patients, but HCMV-specific IgM was detected in only three of them. Two of the nine neonates, who were delivered following a negative prenatal diagnosis, had congenital HCMV infection diagnosed by zy virus isolation in the urine. The interval from infection to prenatal testing was 3 and 4 weeks in the two false-negative cases and 27 weeks in the true-positive cases. Although timely testing for HCMV infection allows the option of termination of pregnancy, it may be flawed by false-negative results. KEY wows-Prenatal diagnosis, congenital human cytomegalovirus infection. INTRODUCTION Approximately 1 per cent of all livebirths are congenitally infected by human cytomegalovirus (HCMV) (Stagno, 1990). Following primary maternal infection, intrauterine transmission occurs in 3 0 per cent of cases (Stagno zyxwvut et al., 1986), and up to 25 per cent of infected infants show significant sequelae, 13 per cent of them having mental impairment (Fowler et al., 1992). Prevention of congenital HCMV infection may be achieved by a combined policy of screening all pregnant women, providing those who are sero- negative at the beginning of pregnancy with basic information on how to avoid sources of infection, and prenatal diagnosis for those women who develop a primary infection at some stage in pregnancy (Yow, 1989). Prenatal diagnosis relies on virus isolation from amniotic fluid and fetal blood, and/or detection of virus-specific IgM (Lange et al., 1982; Hohlfeld et al., 1991; Lynch et al., 1991; Grose et al., 1992; Addressee for correspondence:Professor Umberto Nicolini, l a Clinica Ostetrico-Ginecologica, Universiti di Milano, Via Commenda 12, 20122 Milano, Italy. CCC 0 197-385 1/94/100903-O4 01994 by John Wiley zyxwvutsr & Sons, Ltd. Lamy et al., 1992; Donner et zyx a/., 1993). In ad- dition, non-specific signs, such as fetal anaemia, thrombocytopenia, and elevated liver function tests, have been described in association with fetal HCMV infection (Hohlfeld et al., 1991; Lynch et al., 1991). However, only a few prenatally diagnosed cases have been reported so far, and the reliability of prenatal testing for congenital HCMV infection has not been fully assessed. MATERIALS AND METHODS During a 34-month period (February 1991- December 1993), 15 pregnant women underwent prenatal diagnosis because of primary HCMV infection. Seroconversion was demonstrated dur- ing pregnancy in six women, and in the remainder, clinical symptoms, such as fever, malaise, and myalgia, had prompted investigation which revealed haematological andlor abnormal liver function tests in the presence of virus-specific IgM. Diagnostic procedures varied according to the gestational age at referral: nine women underwent both amniotic fluid and fetal blood sampling once at 19-31 weeks’ gestation; in a further two women,