Test screening for leading infectious cause of hearing loss in babies feasible and well-received

A saliva test taken by parents to screen for the leading infectious cause of hearing loss in babies was feasible and well-received, according to a new study.

The research led by the Murdoch Children's Research Institute (MCRI) and published in the Journal of Paediatrics and Child Health, could pave the way for testing of congenital cytomegalovirus (cCMV) to be added to infant hearing screening programs across Australia.

cCMV can be harmless, but in some babies, it leads to hearing loss and neurodevelopmental disorders such as cerebral palsy or vision loss. About 1 in every 200 babies is born with cCMV. 

MCRI researcher Emma Webb said this was the first study to show that saliva swabs taken by parents to check for cCMV in their babies were achievable and acceptable to Australian families, even when the swabs were taken at home after discharge from hospital.

The study involved 96 families across four maternity hospitals in Melbourne whose babies did not pass their second Victorian Infant Hearing Screening Program (VIHSP) tests. Accurate diagnosis of cCMV requires a saliva test from an infant in the first 21 days after birth, with antiviral treatment recommended, if clinically indicated, within the first month of life.

During the study, 26 per cent of parents did the saliva test at home, 60 per cent at the hospital and 10 per cent as outpatients. The research found a high uptake by parents with 76 per cent agreeing to do the screen and 100 per cent of infant saliva swabs taken within the required timeframe. One baby was found to have cCMV and was immediately treated.   

The findings also showed more than 90 per cent of parents thought the screening was easy to do, was a good idea, and were glad their baby had the test.

Ms Webb said CMV was present in 80 per cent of Australian adults and while it's mostly harmless, it could affect a developing fetus.     

"Once a person becomes infected, the virus remains present but usually dormant for life," she said. "Infection or reactivation can occur during pregnancy, with the small risk that the unborn baby may contract the virus."

International guidelines recommend targeted cCMV screening of newborns who do not pass their hearing checks.

MCRI Associate Professor Valerie Sung said because cCMV was not routinely screened for in Australia, detecting affected infants in time to offer potential antiviral treatment was less likely.

"Given this test allows for an early and accurate cCMV diagnosis, could reduce unnecessary parental guilt, and help prevent lifelong disabilities it should be rolled out nation-wide through newborn hearing screening programs," she said.

Associate Professor Sung said timely screening for cCMV became more difficult after women and babies were discharged. 

"Early discharge, as we're seeing more now of during COVID-19, can be a big problem because it means we might miss cases of cCMV," she said. "But our study has shown parents can do the swab themselves even at home after leaving the hospital." 

Associate Professor Sung said training of hearing screeners, midwives and nurses to complete swabs in the hospital would likely reduce false-positive rates and further improve the uptake and turnaround time for results. 

Victoria Cottrell, whose son Teddy was the only one to test positive for cCMV in the trial, said the test was quick and simple and taking part was the best decision she had ever made.

"I had never heard of cCMV before and thought the cause of the hearing loss most likely was genetic," she said. "During my pregnancy check-ups many infant conditions and foods to steer clear from were mentioned but cCMV was never talked about. The diagnosis came as a shock and was a lot for our family to process."

Profoundly deaf, Teddy, now aged 2 and wears cochlear implants, underwent six months of antiviral treatments and currently has physiotherapy to help with walking.

"If his cCMV diagnosis wasn't picked up so soon he would be further behind in his gross motor skills," Victoria said. "Having the awareness early we have received support quickly and our specialists have been on top of everything."

Victoria said she would like to see a test for cCMV added to infant hearing screening programs across Australia.

"If the trial hadn't happened, we would never have known Teddy had cCMV," she said. "I'm just so thankful and relieved that this trial existed to get the best outcomes for Teddy."

Associate Professor Sung has also recently received a grant from the National Health and Medical Research Council (NHMRC) to study cCMV at the population level. Working with the Gen V research project, one of the world's largest-ever birth and parent cohort studies, will help determine just how common cCMV is among Victorian newborns and the long term outcomes for babies without obvious symptoms at birth. The results should help determine whether universal newborn cCMV screening is warranted and support the development of a rapid same-day test that could lead to early treatment.

Researchers from the University of Melbourne, The Royal Children's Hospital, Monash University, Mercy Hospital for Women, The Royal Women's Hospital, Western Health, Monash Children's Hospital, Oxford Vaccine Group, NIHR Oxford Biomedical Research Centre, The University of Sydney and the Sydney Children's Hospital Network also contributed to the study.   

For more on Victoria's story click here.

Publication: Emma Webb, Alanna N Gillespie, Zeffie Poulakis, Tim Gartland, Jim Buttery, Dan Casalaz, Andrew J Daley, Susan Donath, Amanda Gwee, Susan E Jacobs, Linny K Phuong, Rosalynn Pszczola, Rachael Purcell, Kerryn Saunders, Seilesh Kadambari, Cheryl A. Jones, Valerie Sung, on behalf of the HearS-cCMV Study Team. 'Feasibility and acceptability of targeted salivary cytomegalovirus screening through universal newborn hearing screening,' Journal of Paediatrics and Child Health. DOI: 10.1111/jpc.15705

*The content of this communication is the sole responsibility of MCRI and does not reflect the views of the NHMRC.

Available for interview:

Associate Professor Valerie Sung, MCRI Team Leader, Population Health

Victoria Cottrell, whose son Teddy, 2, has cCMV

Media Contact:

Bridie Byrne

MCRI communications specialist

+61 457 365 848

About MCRI

The Murdoch Children's Research Institute (MCRI) is the largest child health research institute in Australia committed to making discoveries and developing treatments to improve child and adolescent health in Australia and around the world. They are pioneering new treatments, trialling better vaccines and improving ways of diagnosing and helping sick babies, children and adolescents. It is one of the only research institutes in Australia to offer genetic testing to find answers for families of children with previously undiagnosed conditions.

Funding

The study was funded by the University of Melbourne Stevenson Chair of Paediatrics Strategic Support 2017-2018. Saliva PCR costs for each site were funded by a 2018 Mercy Hospitals Victoria Limited (MHVL) Small Research Grant, and Monash Health Immunisation Research Grant. Research at the Murdoch Children's Research Institute is supported by the Victorian Government's Operational Infrastructure Support Program. EW was supported by a Deafness Foundation PhD Scholarship. VS was supported by a National Health and Medical Research Council (NHMRC) Early Career Fellowship (1125687), a Melbourne Children's Clinician Scientist Fellowship 2021 and a L'Oréal-UNESCO Australian & New Zealand For Women in Science Fellowship 2019.