Title: 'Newborn Screening Bloodspots and hearing loss: not just for newborns'
Track: 1 - EHDI Program Enhancement
Keyword(s): CMV, Genetics, bloodspots
Learning Objectives:
  1. Newborn screening bloodspots can be used to retrospectively diagnose congenital CMV.
  2. Newborn screening bloodspots can be used to identify genetic forms of sensorineural hearing loss.
  3. Efforts to destroy newborn screening blood spots should take into consideration their use for retrospective diagnosis for medical conditions later in life.


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.
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Lisa Schimmenti - POC,Primary Presenter,Co-Presenter,Author
University of Minnesota
     Credentials: Associate Professor, Pediatrics, Ophthalmology, and Genetics, Cell Biology and Development, University of Minnesota, AAP EHDI Chapter Champion, MN
      Dr. Schimmenti received her undergraduate degree from Johns Hopkins University in Baltimore, Maryland. She received her medical degree from Albert Einstein College of Medicine in New York. She completed her pediatric residency at Harbor-UCLA Medical Center and her fellowship in Genetics and Metabolism at the University of Minnesota. Providing clinical genetic services for patients and families, Schimmenti’s areas of clinical strength include hearing loss genetics, ophthalmic genetics, and developmental disabilities including autism. She also provides expert medical services for children and adults with inborn errors of metabolism and consultation for babies identified to be at risk of inborn errors of metabolism through newborn screening. As an investigator, Schimmenti’s research focuses on understanding the genetic basis of neurosensory conditions with an emphasis on childhood blindness, hearing loss and developmental disabilities. Her research efforts have been funded by the National Institutes of Health, the March of Dimes and the Minnesota Medical Foundation.

Financial - No relevant financial relationship exist.

Nonfinancial - No relevant nonfinancial relationship exist.
Mark Schleiss - Co-Presenter,Author
University of Minnesota
     Credentials: Professor, Pediatrics, Division Director, Pediatric Infectious Disease, University of Minnesota
      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

Financial - No relevant financial relationship exist.

Nonfinancial - No relevant nonfinancial relationship exist.