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

• Published in: BMC infectious diseases 2019-07, Vol.19 (1), p.652-652, Article 652
• Main Authors: Pellegrinelli, Laura, Galli, Cristina, Primache, Valeria, Alde', Mirko, Fagnani, Enrico, Di Berardino, Federica, Zanetti, Diego, Pariani, Elena, Ambrosetti, Umberto, Binda, Sandro
• Format: Article
• Language: English
• Subjects: Blood tests; Childhood hearing disorders; Children; Congenital Cytomegalovirus; Cytomegalovirus infections; Deaf persons; Deafness; Decision making; Diagnosis; DNA; Dried blood spot; Health screening; Hearing loss; Infants; Infection; Medical research; Medical tests; Neonatal hearing screening program; Newborn infants; Nucleic acids; Risk factors
• ISSN: 1471-2334; 1471-2334
• DOI: 10.1186/s12879-019-4296-5

Congenital Cytomegalovirus (cCMV) is the most common cause of non-genetic hearing loss in childhood. A newborn hearing screening program (NHSP) is currently running in Italy, but no universal cCMV nor statewide hearing-targeted CMV screening programs have been implemented yet. This observational monocentric study was aimed at estimating the rate of cCMV infections identified by CMV-DNA analysis on Dried Blood Spots (DBS) samples in deaf children identified via NHSP in Northern Italy in the period spanning from 2014 to 2018. Children with a confirmed diagnosis of deafness and investigated for CMV-DNA by nucleic acid extraction and in-house polymerase-chain reaction (PCR) on stored newborns screening cards (DBS-test) were included in this study. Deafness was defined by a hearing threshold ≥20 decibel (dB HL) by Auditory Brainstem Responses (ABR); all investigated DBS samples were collected within 3 days of life. Overall, 82 children were included (median age: 3.4 months; lower-upper quartiles: 2-5.3 months; males: 60.9%). Most of them (70.7%) presented bilateral hearing loss with a symmetrical pattern in 79.3% of the cases. ABR thresholds were ≥ 70 dB HL (severe/profound deafness) in 46.5% of children. Among all tested children, 6.1% resulted positive for cCMV. The rate of severe/profound deafness was statistically higher in children with cCMV infection. The addition of DBS-test to the NHSP allowed the identification, in their first months of life, of a cCMV infection in 6.1% of children who had failed NHS. The introduction of a targeted CMV screening strategy could help clinicians in the differential diagnosis and in the babies' management. DBS samples can be considered a "universal newborns biobank": their storage site and duration should be the subject of political decision-making.