Abstract Details

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9/26/2014  |   10:45 AM - 11:15 AM   |  Topical Session 2   |  Ballroom B

PCR of Archived Newborn Blood Spots Reveals that Congenital Cytomegalovirus Infection is a Major Cause of Unexplained Hearing Loss in Minnesota Children

Background: Minnesota has approximately 70,000 deliveries annually and ~200 infants are born with hearing loss. Minnesota children with hearing loss are commonly referred to the UMN Lion's Hearing Clinic, a tertiary care clinic, for comprehensive diagnostic testing and management. Objective: The objective of this study was to evaluate Lion's clinic patients with unexplained non-syndromic hearing loss for congenital CMV (cCMV) infection. In children for whom genetic and anatomic etiologies were excluded, archived, stored newborn dried blood spots (DBS) were tested by real-time PCR for CMV DNA. Viral loads were calculated, and data were collected on extent of hearing loss and on results of NHS. A secondary objective was to gauge parental approval for this research, against the backdrop of political changes that resulted in a recent mandate to end DBS archiving and begin destroying specimens at 71 days after birth (Bearder v. State of Minnesota, supreme court, 2011). Results: 70 families with children with unexplained hearing loss (ages, 6 months-10 years) were approached over a three-year period for permission to retrieve DBS for CMV testing. 68 families (97%) consented, indicating overwhelming support for DBS research. CMV DNA was identified in 19 DBS (28%). Seven of these children (37%) had passed NHS. Hearing loss was bilateral in 15 (79%) and cochlear implantation was performed in 10 (53%). No child had previously been tested for CMV, or had demonstrated evidence by history or physical exam of cCMV. Conclusions: Retrospective PCR diagnosis using DBS identified cCMV as a major (28%) cause of otherwise unexplained hearing loss in a university clinic-based referral population. Parental acceptance was high. Long-term storage of DBS offers families a valuable resource for retrospective diagnosis of medical problems that often cannot be anticipated at birth. Public health officials and politicians should keep this in mind when contemplating changes in existing newborn screening programs.

Mark Schleiss (Primary Presenter), schleiss@umn.edu;


Financial - No relevant financial relationship exist.

Nonfinancial - No relevant nonfinancial relationship exist.

Lisa Schimmenti (Author), las@umn.edu;
Dr. Schimmenti is a physician-scientist and Associate Professor in the Department of Pediatrics. In addition to a clinical practice in pediatric genetics, including genetics of hearing loss, Dr. Schimmenti has an active research program focused on eye development using zebrafish as a model system. Dr. Schimmenti has been funded by the March of Dimes to perform connexin testing on newborn infants who failed NHS and has collaborated extensively with Dr. Schleiss. She is co-director of Science of Medical Practice, a course covering biochemistry and genetics for first year medical students. Dr. Schimmenti received the 2013 All University Award for Outstanding Contributions to Postbaccalaureate, Graduate, and Professional Education, which recognizes Dr. Schimmenti’s excellence as a teacher and mentor. As Associate Director, Dr. Schimmenti leads the UMN MSTP Clinical Continuity and Mentoring Program. Dr. Schimmenti is also a member of the Minnesota Newborn Screening Advisory Committee.


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