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 language | English |
|---|---|
| Article number | 652 |
| Journal | BMC Infectious Diseases |
| Volume | 19 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - Jul 22 2019 |
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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 journal › Article
}
TY - JOUR
T1 - Diagnosis of congenital CMV infection via DBS samples testing and neonatal hearing screening
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
UR - http://www.scopus.com/inward/record.url?scp=85069761575&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85069761575&partnerID=8YFLogxK
U2 - 10.1186/s12879-019-4296-5
DO - 10.1186/s12879-019-4296-5
M3 - Article
VL - 19
JO - BMC Infectious Diseases
JF - BMC Infectious Diseases
SN - 1471-2334
IS - 1
M1 - 652
ER -