The importance of prenatal diagnosis of congenital CMV infections and its relationship with prenatal clinical findings through molecular detection of CMV DNA in amniotic fluid samples

Aims: Congenital cytomegalovirus (cCMV) infection is a major cause of prenatal morbidity, frequently associated with central nervous system (CNS) involvement. This study aimed to determine the frequency of CMV DNA in amniotic fluid (AF) samples obtained from pregnancies with high-risk ultrasound findings suggestive of prenatal CMV infection during the second trimester and to evaluate the associated prenatal findings.Methods: This retrospective study included 238 pregnant women who underwent amniocentesis between January 2023 and November 2025 due to high-risk ultrasound findings identified by experienced perinatologists. CMV DNA in AF samples was detected using Real-Time PCR (RT-PCR). Maternal CMV IgG and IgM serological results were obtained from patient records. Prenatal ultrasound findings, serological data, and molecular test results were analyzed statistically. Results: CMV DNA was detected in 10 of 238 AF samples (4.20%; 95% confidence interval: 1.7-6.8%). In cases with CMV DNA positivity, prenatal ultrasound findings predominantly involved CNS anomalies (80%). CMV IgG positivity was observed in all CMV DNA-positive cases, while CMV IgM positivity was not detected in any patient. Conclusion: The strong association between CNS-predominant ultrasound anomalies and CMV DNA positivity underscores the diagnostic value of CMV DNA PCR testing in AF samples for prenatal CMV infection. These findings support the use of molecular diagnostic methods alongside ultrasonographic evaluation, as maternal serological screening alone may be insufficient for accurate prenatal CMV diagnosis.