18th ANNUAL EARLY HEARING DETECTION & INTERVENTION MEETING
March 3-5, 2019 • Chicago, IL
4/16/2013 | 1:45 PM - 2:45 PM | Newborn Screening Bloodspots and hearing loss: not just for newborns | Solana C | 1
Newborn Screening Bloodspots and hearing loss: not just for newborns
Newborn hearing screening (NHS) using audiometric measures has been successful in identifying infants who are potentially deaf or hard-of-hearing. Once confirmed, months to years may pass before the reason for hearing loss is known. In children with hearing loss, half have an identifiable genetic cause and nearly a third have an infectious cause, primarily Cytomegalovirus (CMV). We employed newborn screening bloodspots in three studies to identify the cause of sensorineural hearing loss. For the first study, 958 bloodspots from infants who referred and passed NHS, were evaluated for possible CMV by PCR. Of 479 infants who referred, 2.7% had evidence of CMV while 0.4% who passed had evidence of CMV (p=0.007). In the second study, 2354 bloodspots were assayed for GJB2 mutations; 1 in 50 blood spots from infants who referred by NHS were found to harbor two hearing loss associated mutations. Both studies were conducted using de-identified bloodspots with approvals from both MDH and UofM IRBs. In the third study, 68 children, ages 6 months to 10 years, were enrolled with informed parental consent into a study to identify CMV from bloodspots. These children were well past the age where prenatal CMV can be confidently identified in “real-time”, given the common acquisition of this infection in infancy and early childhood: however, stored newborn screening bloodspots served as a reliable tissue source from the immediate newborn period. In this group, 19 blood spots (28%)had evidence of perinatal CMV infection and of that group, 7 (37%) passed NHS. This body of work shows that newborn screening bloodspots provide a valuable resource for identification of the cause of childhood hearing loss. Efforts to destroy newborn screening bloodspots should take into consideration their use for retrospective diagnosis for medical conditions later in childhood.
- Newborn screening bloodspots can be used to retrospectively diagnose congenital CMV.
- Newborn screening bloodspots can be used to identify genetic forms of sensorineural hearing loss.
- Efforts to destroy newborn screening blood spots should take into consideration their use for retrospective diagnosis for medical conditions later in life.
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Presenters/Authors
Lisa Schimmenti
(POC,Primary Presenter,Co-Presenter,Author), Mayo Clinic Rochester, schimmenti.lisa@mayo.edu;
Dr. Schimmenti is a Senior Associate Consultant at Mayo Clinic in the departments of Otorhinolaryngology, Clinical Genomics and Biochemistry and Molecular Biology. She is the AAP Chapter Champion for Minnesota and the regional champion for Region VI. She has served on the Minnesota Department of Health Newborn Hearing Screening Committee for over a decade. Her basic science laboratory studies hearing and vision in zebrafish.
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Mark Schleiss
(Co-Presenter,Author), University of Minnesota, schleiss@umn.edu;
Mark R. Schleiss, M.D. is a Professor of Pediatrics in the University of Minnesota Medical School. Dr. Schleiss is the Director, Division of Infectious Diseases and Immunology, and Associate Chair for Research in the Department of Pediatrics.
Dr. Schleiss received his M.D. degree from the Oregon Health and Sciences University, Portland, Oregon. He completed his residency at Doernbecher Children’s Hospital, Oregon Health and Sciences University, Portland, Oregon and his Pediatric Infectious Diseases fellowship at Children’s Hospital Medical Center, University of Washington, Seattle, Washington. He also completed a fellowship in Molecular Medicine studying cytomegalovirus molecular genetics at the Fred Hutchinson Cancer Research Center, Seattle, Washington. His laboratory at the UMN Center for Infectious Diseases and Microbiology Translational Research is described at this link: http://www.cidmtr.umn.edu/investigators/schleiss/home.html. His research on CMV vaccines is described at this link: http://www.ahc.umn.edu/research/cytomegalovirus/index.htm
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Nonfinancial -