Abstract Details
9/08/2025 | 2:00 PM - 2:30 PM | Memorial Hall
Universal newborn screening for congenital cytomegalovirus: A one-year pilot study in New York State
Abstract Summary
Congenital cytomegalovirus (cCMV) is the most common nongenetic cause of hearing loss in children and a considerable contributor to neurological disabilities. Although the majority of babies with cCMV are asymptomatic and do not require treatment, timely antiviral treatment is recommended for babies who have moderate to severe symptoms. However, in the absence of universal screening, the vast majority of babies with cCMV will go undiagnosed. The New York State (NYS) Newborn Screening (NBS) Program performed universal screening for cCMV from September 2023 to October 2024 for a period of one year, with an option for families to opt-out of receiving results. Nucleic acid was extracted from dried blood spots (DBSs) submitted for NBS and quantitative PCR was performed to amplify and detect viral nucleic acid. Of 206,725 newborns who were screened for CMV, 245 (0.1%) were opted out by their parent(s). The NBS Program referred 529 (1 in 390) screen positive infants for diagnostic testing and follow-up. Initial diagnostic evaluation indicated that 68 (12.9%) had cCMV disease, 200 (37.8%) had asymptomatic infection, 11 (2.1%) had cCMV infection with isolated sensorineural hearing loss, 131 (24.8%) had likely acquired CMV postnatally, 62 (11.7%) were lost to follow-up or parents declined follow-up and 17 (3.2%) were false positive referrals. Of the 68 babies with cCMV disease, 48 (70.6%) were treated with antiviral medication. Early identification of CMV allowed symptomatic newborns to be evaluated and provided them an opportunity for improved outcomes. Based on a survey of infectious disease physicians who provided care to newborns with cCMV disease, many of the referred newborns had not been clinically detected at birth despite their symptoms. In addition to symptomatic cCMV babies, NBS identified asymptomatic infants at risk of developing late onset hearing not detected through newborn hearing screening.
Learning Objectives
- Describe the goals of newborn screening for cCMV
- Discuss the challenges of screening dried blood spot specimens for cCMV
- Identify potential diagnostic outcomes following a positive CMV newborn screen
Presentation
3578581_18462NormaTavakoli.pdf
Handouts
No handouts have been uploaded.
Presenters
Denise Kay | Co-Author
denise.kay@health.ny.gov;
Denise Kay, PhD is a Research Scientist and Director of Newborn Screening at the New York State Department of Health's Wadsworth Center. She serves as a co-Primary Investigator of PROACTIVE NYS.
ASHA DISCLOSURE
Financial -
Nonfinancial -
AAA DISCLOSURE
Financial - No relevant financial relationship exists.
Virginia Sack | Co-Author
virginia.sack@health.ny.gov;
Virginia Sack supervises the Follow-up Unit at the NYS Newborn Screening Program.
ASHA DISCLOSURE
Financial -
Nonfinancial -
AAA DISCLOSURE
Financial - No relevant financial relationship exists.
Michele Caggana | Co-Author
michele.caggana@health.ny.gov;
Dr. Michele is the Director of the NYS Newborn Screening Program.
ASHA DISCLOSURE
Financial -
Nonfinancial -
AAA DISCLOSURE
Financial - No relevant financial relationship exists.
Norma Tavakoli | Primary Presenter
norma.tavakoli@health.ny.gov;
Norma Tavakoli, Ph.D. received a Bachelor of Science degree in Microbiology and a doctoral degree in Molecular Biology from the University of Bristol, UK. Her postdoctoral research at the Wadsworth Center involved investigating transposable elements in bacteria. As the Director of Molecular Methods Development in the Clinical Virology Program at the Wadsworth Center, Dr. Tavakoli developed molecular assays for the detection of viral pathogens and was involved in outbreak response. She became the Director of the Viral Encephalitis Laboratory in 2004. Dr. Tavakoli joined the Newborn Screening Program in 2007 and has overseen the Immunoassay Laboratory since 2010. Her laboratory performs screening for congenital hypothyroidism, congenital adrenal hyperplasia, cystic fibrosis and HIV and recently performed a 1-year pilot study to screen newborns for congenital cytomegalovirus. She has worked as a consultant for the Association of Public Health Laboratories and is an Assistant Professor at State University of NY, Albany.
ASHA DISCLOSURE
Financial - No relevant financial relationship exists.
Nonfinancial - No relevant nonfinancial relationship exists.
AAA DISCLOSURE
Financial - Receives support from None for The project was performed using contract funding from the Eunice Kennedy Shriver National Institute of Child Health and Human development..