Prenatal diagnosis of congenital cytomegalovirus infection in 189 pregnancies with known outcome

G. Enders et al., Prenatal diagnosis of congenital cytomegalovirus infection in 189 pregnancies with known outcome, PRENAT DIAG, 21(5), 2001, pp. 362-377
Citations number
Categorie Soggetti
Reproductive Medicine","Medical Research Diagnosis & Treatment
Journal title
ISSN journal
0197-3851 → ACNP
Year of publication
362 - 377
SICI code
Prenatal diagnosis (PD) of fetal cytomegalovirus (CMV) infection was perfor med in 242 pregnancies, with known outcome in 189 cases. In 141/189 pregnan cies, PD was carried out on account of suspicious maternal CMV serology up to gestational week (WG) 23, and in 48 cases on account of abnormal ultraso nic findings detected between WG 18 and 39. Chorionic villus samples (n = 6 ), amniotic fluid (AF, n = 176) and/or fetal blood specimens (n = 80) were investigated for detection of virus by cell culture, shell vial assay, PCR and/or CMV-specific IgM antibodies. Of 189 fetuses correctly evaluated by C MV detection either in fetal tissue following therapeutic abortion/stillbir th (n = 24) or in urine of neonates within the first 2 weeks of life (n = 3 3), 57 were congenitally infected. In women with proven or suspected primar y infection, the intrauterine transmission rates were 20.6% (7/34) and 24.4 % (10/41), respectively. Of the congenitally infected live-born infants, 57 .6% (19/33) had symptoms of varying degree. The overall sensitivity of PD i n the serologic and ultrasound risk groups was 89.5% (51/57). A sensitivity of 100% was achieved by combining detection of CMV-DNA and CMV-specific Ig M in fetal blood or by combined testing of AF and fetal blood for CMV-DNA o r IgM antibodies. There was no instance of intrauterine death following the invasive procedure. The predictive value of PD for fetal infection was 95. 7% (132/138) for negative results and 100% (51/51) for positive results. Co rrect results for congenital CMV infection by testing AF samples can be exp ected with samples obtained after WG 21 and after a time interval of at lea st 6 weeks between first diagnosis of maternal infection and PD. In case of negative findings in AF or fetal blood and the absence of ultrasound abnor malities at WG 22-23, fetal infection and neonatal disease could be exclude d with high confidence. Positive findings for CMV infection in AF and/or fe tal blood in combination with CMV suspicious ultrasound abnormalities predi cted a high risk of cytomegalic inclusion disease (CID). Furthermore, detec tion of specific IgM antibodies in fetal blood was significantly correlated with severe outcome for the fetus or the newborn (p = 0.0224). However, no rmal ultrasound of infected fetuses at WG 22-23 can neither completely excl ude an abnormal ultrasound at a later WG and the birth of a severely damage d child nor the birth of neonates which are afflicted by single manifestati ons at birth or later and of the kind which are not detectable by currently available ultrasonographic techniques. Copyright (C) 2001 John Wiley & Son s, Ltd.