Neonatologia
Infezione congenita da citomegalovirus
Congenital cytomegalovirus infection: why it is important to diagnose it and novelties from the literature
Carlotta Rubino1, Alessia Spadavecchia1, Alessandro Neirotti1, Agata Leone2, Alessandra Coscia2
1Scuola di Specializzazione in Pediatria, Dipartimento di Scienze della Sanità Pubblica e Pediatriche, Università di Torino
2SC Neonatologia U, Città della Salute e Della Scienza di Torino
Gennaio 2025 - pagg. 38 -42 | DOI: 10.53126/MEB44038
Abstract
Congenital cytomegalovirus is the leading cause of congenital infection in developed countries and is increasingly recognized in paediatrics due to its significant impact on hearing loss and neurodevelopmental outcomes in children. Recent advances have been made in managing this condition, notably with the approval of an antiviral therapy for pregnant women, which has shown to effectively reduce vertical transmission, especially in cases of primary maternal infection during the first trimester. Despite these advancements, ongoing research continues to refine strategies and improve clinical management of cCMV, highlighting the need for continuous updates and awareness in paediatric practice.
Riassunto
Il citomegalovirus congenito (cCMV) è la principale infezione ereditaria nei paesi sviluppati e rappresenta una preoccupazione crescente in Pediatria a causa del suo impatto significativo sulla sordità e sul neurosviluppo infantile. Recentemente sono stati fatti progressi notevoli nella gestione di questa condizione poiché è stata approvata una terapia antivirale per le donne in gravidanza che ha dimostrato di ridurre efficacemente la trasmissione verticale del virus, soprattutto in caso di infezione primaria nel primo trimestre. Nonostante questi avanzamenti, la ricerca continua a esplorare nuove strategie e migliorare la gestione clinica del cCMV, sottolineando l'importanza di un costante aggiornamento e consapevolezza nella pratica pediatrica.
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Bibliografia
1. Manicklal S, Emery VC, Lazzarotto T, Boppana SB, Gupta RK. The "silent" global burden of congenital cytomegalovirus. Clin Microbiol Rev 2013;26(1):86-102. doi: 10.1128/ CMR.00062-122.
2. EpiCentro, ISS. Citomegalovirus. 2020.
3. Britt WJ. Maternal Immunity and the Natural History of Congenital Human Cytomegalovirus Infection. Viruses 2018;10(8):405. doi: 10.3390/v10080405.
4. Coscia A, Leone A, Rubino C, et al. Risk of Symptomatic Infection after Non-Primary Congenital Cytomegalovirus Infection. Microorganisms 2020;8(5):786. doi: 10.3390/microorganisms8050786.
5. Hui L, Wood G. Perinatal outcome after maternal primary cytomegalovirus infection in the first trimester: a practical update and counseling aid. Prenat Diagn 2015;35(1):1-7. doi: 10.1002/pd.4497.
6. Shahar-Nissan K, Pardo J, Peled O, et al. Valaciclovir to prevent vertical transmission of cytomegalovirus after maternal primary infection during pregnancy: a randomised, double-blind, placebo-controlled trial. Lancet 2020;396(10253):779-85. doi: 10.1016/S0140-6736(20)31868-7.
7. AIFA (Agenzia Italiana del Farmaco). Determina del 16 dicembre 2020. Inserimento del medicinale «Valaciclovir» (originatore o biosimilare) nell’elenco dei medicinali erogabili a totale carico del Servizio Sanitario Nazionale, per la prevenzione dell’infezione fetale e il trattamento della malattia fetale da citomegalovirus. Determina n. 142618/2020, 20A07138. Gazzetta Ufficiale - Serie Generale, n. 322 del 30 dicembre 2020.
8. Leruez-Ville M, Chatzakis C, Lilleri D, et al. Consensus recommendation for prenatal, neonatal and postnatal management of congenital cytomegalovirus infection from the European congenital infection initiative (ECCI). Lancet Reg Health Eur 2024;40:100892. doi: 10.1016/j.lanepe.2024.100892. Erratum in: Lancet Reg Health Eur 2024;42:100974. doi: 10.1016/j.lanepe.2024.100974.
9. Vicente M, Carocha AI, Rijo C, Cohen Á, Martins ML. Cytomegalovirus congenital infection: long-term outcomes in a valaciclovir treated population. J Perinat Med 2024; 52(7):778-82. doi: 10.1515/jpm-2023-0535.
10. Istituto Superiore di Sanità. Gravidanza fisiologica. PRIMA PARTE. Sezione 1 - Informazioni alle donne in gravidanza. Sezione 2 - Screening delle infezioni in gravidanza. 2023, xiii, 248 p. Linea guida 1/2023 SNLG.
https://www.epicentro.iss.it/itoss/pdf/LG-Gravidanza-Fisiologica-Parte1_protetto.pdf
11. CDC. About Cytomegalovirus. 2024.
12. Binda S, Pellegrinelli L, Terraneo M, et al. What people know about congenital CMV: an analysis of a large heterogeneous population through a web-based survey. BMC Infect Dis 2016;16(1):513. doi: 10.1186/s12879-016-1861-z.
13. Castillo K, Hawkins-Villarreal A, Valdés-Bango M, et al. Congenital Cytomegalovirus Awareness and Knowledge among Health Professionals and Pregnant Women: An Action towards Prevention. Fetal Diagn Ther 2022;49(5-6):265-272. doi:10.1159/000525528.
14. Sartori P, Baud D, de Tejada BM, et al. Cytomegalovirus infection during pregnancy: cross-sectional survey of knowledge and prevention practices of healthcare professionals in French-speaking Switzerland. Virol J 2024;21(1):45. doi: 10.1186/s12985-024-02318-w.
15. Rawlinson WD, Boppana SB, Fowler KB, et al. Congenital cytomegalovirus infection in pregnancy and the neonate: consensus recommendations for prevention, diagnosis, and therapy. Lancet Infect Dis 2017;17(6): e177-e188. doi: 10.1016/S1473-3099(17) 30143-3.
16. Spadavecchia A, Cresi F, Leone A, et al. Replication properties and immunomodulatory effects of human cytomegalovirus infection impact the clinical presentation in congenital patients: A case series. J Clin Virol 2023;164:105490. doi: 10.1016/j.jcv.2023. 105490.
17. Pinninti S, Boppana S. Congenital cytomegalovirus infection diagnostics and management. Curr Opin Infect Dis 2022;35(5):436-441. doi: 10.1097/QCO.0000000000000874.
18. Singh S, Maheshwari A, Boppana S. CMV-induced Hearing Loss. Newborn 2023;2(4):249-262. doi: 10.5005/jp-journals-11002-0081.
19. Dollard SC, Grosse SD, Ross DS. New estimates of the prevalence of neurological and sensory sequelae and mortality associated with congenital cytomegalovirus infection. Rev Med Virol 2007;17(5):355-63. doi: 10.1002/rmv.544.
20. Pesch MH, Leung J, Lanzieri TM, et al. Autism Spectrum Disorder Diagnoses and Congenital Cytomegalovirus. Pediatrics 2024;153(6):e2023064081. doi: 10.1542/peds. 2023-064081.
21. Teissier N, Bernard S, Quesnel S, Van Den Abbeele T. Audiovestibular consequences of congenital cytomegalovirus infection. Eur Ann Otorhinolaryngol Head Neck Dis 2016;133(6):413-8. doi: 10.1016/j.anorl. 2016.03.004.
22. Forner G, Abate D, Mengoli C, Palù G, Gussetti N. High Cytomegalovirus (CMV) DNAemia Predicts CMV Sequelae in Asymptomatic Congenitally Infected Newborns Born to Women With Primary Infection During Pregnancy. J Infect Dis 2015;212(1):67-71. doi: 10.1093/infdis/jiu627.
23. Alarcon A, Martinez-Biarge M, Cabañas F, Hernanz A, Quero J, Garcia-Alix A. Clinical, biochemical, and neuroimaging findings predict long-term neurodevelopmental outcome in symptomatic congenital cytomegalovirus infection. J Pediatr 2013;163(3):828-34.e1. doi: 10.1016/j.jpeds.2013.03.014.
24. Fourgeaud J, Magny JF, Couderc S, et al. Clinical Value of Serial Quantitative Analysis of Cytomegalovirus DNA in Blood and Saliva Over the First 24 Months of Life in Congenital Infection: The French Cymepedia Cohort. J Pediatr 2023;253:197-204.e5. doi: 10.1016/ j.jpeds.2022.09.040.
25. Fourgeaud J, Magny JF, Couderc S, et al. Predictors of the Outcome at 2 Years in Neonates With Congenital Cytomegalovirus Infection. Pediatrics 2024;153(4):e2023063531. doi: 10.1542/peds.2023-063531.
26. Alarcon A, Martinez-Biarge M, Cabañas F, Quero J, García-Alix A. A Prognostic Neonatal Neuroimaging Scale for Symptomatic Congenital Cytomegalovirus Infection. Neonatology 2016;110(4):277-85. doi: 10.1159/ 000446690.
27. Alarcón A, de Vries LS, Parodi A, et al. Neuroimaging in infants with congenital cytomegalovirus infection and its correlation with outcome: emphasis on white matter abnormalities. Arch Dis Child Fetal Neonatal Ed 2024;109(2):151-8. doi: 10.1136/archdischild-2023-325790.
28. Exler S, Daiminger A, Grothe M, Schalasta G, Enders G, Enders M. Primary cytomegalovirus (CMV) infection in pregnancy: Diagnostic value of CMV PCR in saliva compared to urine at birth. J Clin Virol 2019;117:33-6. doi: 10.1016/j.jcv.2019.05.015.
29. Wang L, Xu X, Zhang H, Qian J, Zhu J. Dried blood spots PCR assays to screen congenital cytomegalovirus infection: a meta-analysis. Virol J 2015;12:60. doi: 10.1186/ s12985-015-0281-9.
30. Kimberlin DW, Jester PM, Sánchez PJ, et al. Valganciclovir for symptomatic congenital cytomegalovirus disease. N Engl J Med 2015;372(10):933-943. doi:10.1056/NEJMoa1404599.
31. Gruppo multidisciplinare «Malattie infettive in ostetricia-ginecologia e neonatologia». Percorsi diagnostico-assistenziali in Ostetricia-Ginecologia e Neonatologia: CITOMEGALOVIRUS. 2012.
32. Luck SE, Wieringa JW, Blázquez-Gamero D, et al. Congenital Cytomegalovirus: A European Expert Consensus Statement on Diagnosis and Management. Pediatr Infect Dis J 2017;36(12):1205-13. doi: 10.1097/INF. 0000000000001763.
33. Novelli M, Natale F, Di Norcia A, et al. Early neurodevelopmental outcomes in children with asymptomatic congenital CMV infection. Ital J Pediatr 2022;48(1):203. doi: 10.1186/s13052-022-01387-3.
34. Pesch MH, Lauer CS, Weinberg JB. Neurodevelopmental outcomes of children with congenital cytomegalovirus: a systematic scoping review. Pediatr Res 2024;95(2):418-35. doi: 10.1038/s41390-023-02639-6.
Corrispondenza: carlotta.rubino@edu.unito.it