Diagnosis of human cytomegalovirus intrauterine infection using fetal cells from maternal blood

Abstract Objective The sensitivity and specificity for the noninvasive prenatal diagnosis of human cytomegalovirus intrauterine infection were estimated by using isolating single fetal cells from maternal peripheral blood. Methods Micromanipulation techniques were employed to isolate single fetal nucleated erythroblasts from 273 maternal blood samples. SRY gene and HCMV‐DNA in single fetal cells were detected by multiple primed in situ labeling (PRINS) from 76 HCMV‐DNA positive samples of maternal peripheral blood. 273 samples of maternal peripheral blood were tested for SRY gene and HCMV‐DNA in single fetal cells by primed extension preamplification (PEP) and polymerase chain reaction (PCR). Results The detection rate of fetal cells from maternal blood was 100% with micromanipulation techniques. The sensitivity of PRINS for SRY gene detection was 97.56% and its specificity was 100%. The sensitivity and specificity of PEP and PCR for SRY gene detection were 97.39% and 99.17%, respectively. The sensitivity of PRINS for HCMV‐DNA detection was 92.68% and the specificity was 100%. The sensitivity and specificity of PEP and PCR for HCMV‐DNA detection were 95.12%and 100%, respectively. Conclusion The technique for noninvasive prenatal detection of intrauterine infection of HCMV using single fetal cells from maternal peripheral blood by using PRINS and PEP and PCR is more reliable than the CMV‐DNA detection in peripheral maternal blood, amniocentesis or percutaneous umbilical blood sampling.