First‐trimester diagnosis of congenital cytomegalovirus infection after maternal primary infection in early pregnancy: feasibility study of viral genome amplification by PCR on chorionic villi obtained by CVS

Abstract

What are the novel findings of this work?Diagnosis of placental infection following maternal primary infection with cytomegalovirus (CMV) in early pregnancy, i.e. when the fetus is at risk of sequelae, can be achieved in the first trimester by chorionic villus sampling (CVS) and polymerase chain reaction amplification of the viral genome in chorionic villi, with high specificity and negative predictive value. What are the clinical implications of this work?Absence of CMV in the chorionic villi sampled by CVS could exclude CMV-related embryopathy leading to neurological and sensorineural deficits. Diagnosis of congenital CMV infection following first-trimester serology screening should help early in pregnancy to reassure the mother and reduce her anxiety or enable initiation of individual prenatal management of fetal infection.

Secondary prevention of congenital cytomegalovirus infection with valacyclovir following maternal primary infection in early pregnancy

“…Although the diagnosis of congenital infection is made at birth and potential sequelae are assessed at 2 years of age at the earliest, we chose to consider the result of PCR analysis of amniotic fluid at 17–22 weeks' gestation as being indicative of transplacental passage of the virus. We feel this was justified because, while a negative amniotic fluid PCR result has been found to be associated with an infected neonate in up to 8% of cases, these false‐negative results were related to late transplacental passage – much later than the embryonic period – and did not yield any symptomatic forms of cCMV 16,24,25 .…”

“…Only patients who underwent amniocentesis performed at least 8 weeks after maternal infection and from 17 weeks' gestation onwards were included. Ten of the cases reported in this series underwent chorionic villus sampling for array comparative genomic hybridization and PCR amplification of CMV-DNA and have been reported previously 8 .…”

Cytokine Profiling of Amniotic Fluid from Congenital Cytomegalovirus Infection

“…In utero therapy using valaciclovir (8 g/day, 2 g four time a day) was progressively extended from curative (in case of infected fetuses) to preventive treatment (risk of fetal infection following PMI) [ 81 , 82 ]. Our group has recently implemented the diagnosis of fetal infection using CMV-PCR on trophoblast samples obtained by chorionic villus sampling (CVS) at 13–14 weeks [ 83 ]. Profiling of inflammatory mediators on infected trophoblast samples could provide additional data on placental immunity and on the pathophysiology of vertical transmission.…”

Advocating for cytomegalovirus maternal serologic screening in the first trimester of pregnancy: if you do not know where you are going, you will wind up somewhere else

“…We have recently demonstrated that viral DNA could be amplified by PCR in the trophoblast after chorion villus sampling at 13 to 14 weeks in cases that will demonstrate a positive PCR in amniotic fluid in the second trimester with good positive and negative predictive values of 100% and 91%, respectively. 40 Finally, whethe the decision to terminate the pregnancy with an infected fetus after maternal infection in the first trimester is a harmful effect of screening is debatable. Complex emotional experiences are integral to early pregnancy.…”