Neonates with congenital Cytomegalovirus and hearing loss identified via the universal newborn hearing screening program

Diagnosis of congenital CMV infection via DBS samples testing and neonatal hearing screening: an observational study in Italy

“…Even though the sensitivity of DBS testing can be highly variable since it is strongly affected by the blood component release from ‘Guthrie’ Card and by the nucleic acid extraction methodology applied for [12–15], the outcomes of the present study are in agreement with the literature: cCMV infection was identified in 6.1% of children, similarly to other reports in which the rate of cCMV in children failing NHSP ranged between 5 and 8% [3, 4, 12]. The workflow of an hearing-targeted cCMV screenings can also been realized by CMV PCR testing on saliva and/or urine [3]; however, in this setting, we absolutely needed to have the results of audiological examination (TEOAE and ABR) before children were 21 days old days and prior the hospital discharge of the children in order to collect saliva and urine that - unlike in the case of DBS - are not routinely sampling at birth [3].…”

“…It would also enable an earlier identification and correction of the main cause of hearing loss with post-natal onset [5]. If, for any reason, a neonatal cCMV screening is not feasible on a large scale, at least a hearing-targeted cCMV screening should be set up: it would allow the early identification of children with cCMV-related hearing loss, although it would miss delayed hearing losses or other cCMV-related disease [3, 4, 9]. The following benefits from hearing-targeted CMV screening can be underlined; i) it would provide an accurate assessment of the aetiology of childhood deafness, helping physicians in children’s management and follow-up; ii) it would allow an adequate counselling and support to parents; iii) it would help predicting whether another child might be born with hearing-linked damages and, finally, iv) it could alert clinicians on the possible neurological and behavioural complications.…”

“…A wide range of diseases, diagnosed either at birth or in childhood, has been correlated to cCMV infection [1]; sensorineural hearing loss is the most frequent permanent damage, occurring in 5–40% of infected children, either symptomatic or not at birth; as a matter of fact, cCMV is the most common cause of non-genetic deafness in childhood [2]. An early identification of infected children – ideally through a universal neonatal screening - might allow a prompt treatment, aimed at limiting the hearing loss progression and possibly preventing the onset of cCMV-linked damages to the central nervous system in both symptomatic and asymptomatic babies [3, 4]. …”

“…According to the recent literature, the virological investigations for cCMV in infants failing their newborn hearing screening program (NHSP) - which is performed in many countries- could overcome the absence of an universal cCMV screening [3–6]. …”

“…The diagnosis of cCMV infection can be achieved by the examination of salivary/urinary samples collected within the first 2–3 weeks of age as the results of NHSP [3–6]; after this early period of life, it is possible to distinguish between congenital and acquired CMV infection just by examining the Dried Blood Spot (DBS) samples on the ‘Guthrie’ cards that are universally collected within three days from the birth. These Guthrie cards are obtained in all newborns for the screening of metabolic and genetic disorders and stored at the Regional neonatal screening centre.…”