Diagnosis of congenital CMV infection via DBS samples testing and neonatal hearing screening

An observational study in Italy

Laura Pellegrinelli, Cristina Galli, Valeria Primache, Mirko Alde, Enrico Fagnani, Federica Di Berardino, Diego Zanetti, Elena Pariani, Umberto Ambrosetti, Sandro Binda

Research output: Contribution to journalArticle

Abstract

Background: 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. Methods: 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. Results: 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. Conclusions: 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.

Original languageEnglish
Article number652
JournalBMC Infectious Diseases
Volume19
Issue number1
DOIs
Publication statusPublished - Jul 22 2019

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Dried Blood Spot Testing
Neonatal Screening
Italy
Hearing
Observational Studies
Deafness
Newborn Infant
Infection
Cytomegalovirus Infections
Cytomegalovirus
Brain Stem Auditory Evoked Potentials
Hematologic Tests
Bilateral Hearing Loss
DNA
Hearing Loss
Nucleic Acids
Decision Making
Differential Diagnosis
Polymerase Chain Reaction

Keywords

  • Congenital Cytomegalovirus
  • Dried blood spot
  • Hearing loss
  • Neonatal hearing screening program

ASJC Scopus subject areas

  • Infectious Diseases

Cite this

Diagnosis of congenital CMV infection via DBS samples testing and neonatal hearing screening : An observational study in Italy. / Pellegrinelli, Laura; Galli, Cristina; Primache, Valeria; Alde, Mirko; Fagnani, Enrico; Di Berardino, Federica; Zanetti, Diego; Pariani, Elena; Ambrosetti, Umberto; Binda, Sandro.

In: BMC Infectious Diseases, Vol. 19, No. 1, 652, 22.07.2019.

Research output: Contribution to journalArticle

Pellegrinelli, Laura ; Galli, Cristina ; Primache, Valeria ; Alde, Mirko ; Fagnani, Enrico ; Di Berardino, Federica ; Zanetti, Diego ; Pariani, Elena ; Ambrosetti, Umberto ; Binda, Sandro. / Diagnosis of congenital CMV infection via DBS samples testing and neonatal hearing screening : An observational study in Italy. In: BMC Infectious Diseases. 2019 ; Vol. 19, No. 1.
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abstract = "Background: 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. Methods: 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. Results: 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. Conclusions: 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.",
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T2 - An observational study in Italy

AU - Pellegrinelli, Laura

AU - Galli, Cristina

AU - Primache, Valeria

AU - Alde, Mirko

AU - Fagnani, Enrico

AU - Di Berardino, Federica

AU - Zanetti, Diego

AU - Pariani, Elena

AU - Ambrosetti, Umberto

AU - Binda, Sandro

PY - 2019/7/22

Y1 - 2019/7/22

N2 - Background: 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. Methods: 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. Results: 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. Conclusions: 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.

AB - Background: 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. Methods: 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. Results: 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. Conclusions: 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.

KW - Congenital Cytomegalovirus

KW - Dried blood spot

KW - Hearing loss

KW - Neonatal hearing screening program

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