Prenatal diagnosis of congenital cytomegalovirus infection: Prospective study of 237 pregnancies at risk

Objective: To develop recommendations for prenatal diagnosis of congenital cytomegalovirus (CMV) infection and evaluate possible prognostic markers. Methods: We studied 237 pregnant women who had suspected or confirmed prima ry CMV infections by amniocenteses with or without funipuncture. Diagnosis of CMV was based on culture and polymerase chain reaction (FCR) done on amn iotic fluid (AF) samples; fetal blood tests for CMV immunoglobulin M antibo dies, PCR, and nonspecific biologic markers; and repeated ultrasound examin ations. In cases of pregnancy termination, viral and pathologic examination s of fetuses were done. At birth, CMV infections were sought in newborns. P ediatric follow-up was scheduled for at least 2 years. Results: Of 210 fetuses and newborns correctly evaluated, 55 had CMV infect ions. Ten of 38 fetuses infected before 20 weeks' pregnancy had severe cong enital disease. The global sensitivity of prenatal diagnosis was 80%. Best sensitivity and 100% specificity were achieved by PCR done on AF sampled af ter 21 weeks' gestation, respecting a mean interval of 7 weeks between diag nosis of maternal infection and prenatal diagnosis. Fetal thrombocytopenia was associated with severe fetal disease. Ultrasound follow-up missed two f etuses who presented with neurologic impairment due to CMV after birth. Conclusion: A reliable prenatal diagnosis of congenital CMV infection based on PCR on amniocentesis samples can be made after 21 weeks' pregnancy, aft er a 7-week interval between diagnosis of maternal infection and antenatal procedure. Ultrasound and nonspecific biologic parameters are not sufficien t to identify all fetuses at risk of severe sequelae. (Obstet Gynecol 2000; 95:881-8. (C) 2000 by The American College of Obstetricians and Gynecologis ts).