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

Laura Pellegrinelli1, Cristina Galli2, Valeria Primache2

  • 1Dipartimento di Scienze Biomediche per la Salute, Università degli Studi di Milano, Via Carlo Pascal, 36, 20133, Milan, Italy. laura.pellegrinelli@unimi.it.

BMC Infectious Diseases
|July 24, 2019
PubMed

Insights

Congenital cytomegalovirus (cCMV) screening of deaf children identified via newborn hearing screening found 6.1% had cCMV infections. This highlights the potential for targeted CMV screening in early diagnosis and management of hearing loss.

Area of Science:

  • Pediatric Audiology
  • Infectious Diseases
  • Neonatal Screening

Background:

  • Congenital cytomegalovirus (cCMV) is a leading cause of non-genetic childhood hearing loss.
  • Italy's newborn hearing screening program (NHSP) lacks universal cCMV or hearing-targeted CMV screening.
  • This study assessed cCMV infection rates in deaf children identified by NHSP in Northern Italy (2014-2018).

Purpose of the Study:

  • To estimate the prevalence of cCMV infections in deaf children identified through the NHSP.
  • To evaluate the utility of Dried Blood Spots (DBS) testing for cCMV detection in this population.
  • To inform the potential implementation of targeted CMV screening strategies.

Main Methods:

  • Observational monocentric study of 82 deaf children identified via NHSP.
  • CMV-DNA analysis using in-house polymerase-chain reaction (PCR) on stored DBS samples (collected within 3 days of life).
  • Deafness defined by Auditory Brainstem Responses (ABR) thresholds ≥20 dB HL.

Main Results:

  • 6.1% of tested children were positive for cCMV.
  • Severe/profound deafness (≥70 dB HL) was significantly more common in children with cCMV.
  • The DBS-test identified cCMV in 6.1% of infants who failed NHS.

Conclusions:

  • Adding DBS-testing to NHSP can identify cCMV in a significant proportion of infants with hearing loss.
  • A targeted CMV screening strategy could aid differential diagnosis and management of hearing-impaired infants.
  • Stored DBS samples represent a valuable "universal newborns biobank" resource, necessitating policy decisions regarding their use and duration.
Abstract

Keywords:
Congenital CytomegalovirusDried blood spotHearing lossNeonatal hearing screening program

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