Utility of Genetic Testing for the Detection of Late-Onset Hearing Loss in Neonates Purpose The purpose of this study was to demonstrate the utility of molecular testing in the detection of potentially important causes of delayed hearing loss missed by current audiometric screening at birth. Method We enrolled infants who had received a newborn audiometric hearing screen and a filter paper ... Research Article
EDITOR'S AWARD
Research Article  |   December 01, 2013
Utility of Genetic Testing for the Detection of Late-Onset Hearing Loss in Neonates
 
Author Affiliations & Notes
  • B. Gail Lim
    The MEDNAX Center for Research, Education and Quality, Sunrise, FL. Pediatrix Medical Group, Inc., is a unit of MEDNAX, Inc.
  • Reese H. Clark
    The MEDNAX Center for Research, Education and Quality, Sunrise, FL. Pediatrix Medical Group, Inc., is a unit of MEDNAX, Inc.
  • Amy S. Kelleher
    The MEDNAX Center for Research, Education and Quality, Sunrise, FL. Pediatrix Medical Group, Inc., is a unit of MEDNAX, Inc.
  • Zhili Lin
    The MEDNAX Center for Research, Education and Quality, Sunrise, FL. Pediatrix Medical Group, Inc., is a unit of MEDNAX, Inc.
  • Alan R. Spitzer
    The MEDNAX Center for Research, Education and Quality, Sunrise, FL. Pediatrix Medical Group, Inc., is a unit of MEDNAX, Inc.
  • Disclosure: Two of the authors, B. Gail Lim and Zhili Lin, have ownership rights to the SoundGene® panel. Adoption of this panel as a screening technique would be financially beneficial to these two authors.
    Disclosure: Two of the authors, B. Gail Lim and Zhili Lin, have ownership rights to the SoundGene® panel. Adoption of this panel as a screening technique would be financially beneficial to these two authors.×
  • Correspondence to Amy S. Kelleher: amy_kelleher@pediatrix.com
  • Editor: Larry Humes
    Editor: Larry Humes×
Article Information
Hearing Disorders / Special Populations / Genetic & Congenital Disorders / Research Articles
Research Article   |   December 01, 2013
Utility of Genetic Testing for the Detection of Late-Onset Hearing Loss in Neonates
American Journal of Audiology, December 2013, Vol. 22, 209-215. doi:10.1044/1059-0889(2013/12-0078)
History: Received December 17, 2012 , Revised February 26, 2013 , Accepted March 5, 2013
 
American Journal of Audiology, December 2013, Vol. 22, 209-215. doi:10.1044/1059-0889(2013/12-0078)
History: Received December 17, 2012; Revised February 26, 2013; Accepted March 5, 2013
Web of Science® Times Cited: 3

Purpose The purpose of this study was to demonstrate the utility of molecular testing in the detection of potentially important causes of delayed hearing loss missed by current audiometric screening at birth.

Method We enrolled infants who had received a newborn audiometric hearing screen and a filter paper blood collection for state newborn screening. A central laboratory ran the SoundGene® panel.

Results Of 3,681 infants studied, 35 (0.95%) had a positive SoundGene panel, 16 had mitochondrial mutations, 9 had Pendred mutations, 5 were cytomegalovirus (CMV) DNA positive, 2 had connexin mutations, and 3 had a combination of different mutations. Infants with an abnormal SoundGene panel were at increased risk for hearing loss compared to neonates without mutations. Three (8.6%) of the 35 subjects had persistent hearing loss compared to 5 (0.21%) of 2,398 subjects with no report of mutation (p < .01). Of 3,681 infants studied, 8 (0.22%) had persistent hearing loss: 5 (62.5%) had abnormal newborn audiometric screens, 2 (25%) had an abnormal SoundGene panel (1 was CMV positive, 1 had a mitochondrial mutation), and 1 (12.5%) had no identifiable risk factors.

Conclusion A positive SoundGene panel identifies infants who are not identified by audiometric testing and may be at risk for hearing loss.

Acknowledgments
We would like to acknowledge the following individuals for their administrative support with the study: Melissa McLennon, Lisa Camacho, Tulsi Azore, Carole Benson, and Brenda Sommers.
Pediatrix SoundGene®Study Group Principal Investigators. Donna K. Boylan, NNP, Arnot Ogden Medical Center (NY); Howard Brenker, MD, Boca Raton Regional Hospital (FL); Johny Tryzmel, MD, Broward General Medical Center (FL); Jayesh Shah, MD, Charleston Area Medical Center (WV); Pedro Moscoso, MD, and Andres Rodriguez, MD, Coral Springs Medical Center (FL); Erin Stepka, MD, PhD, Fairview Hospital (OH); Meera N. Sankar, MD, and Kenneth Tan, MD, Good Samaritan Hospital (CA); Edward Co, MD, Integris Baptist Medical Center (OK); Linda M. Sacks, MD, Memorial Health University Medical Center (GA); Diane L.Woodall, MD, Methodist Hospital Germantown (TN); Jeffrey Paul, MD, Methodist Metropolitan Hospital (TX); Marc R. Belcastro, DO, Miami Valley Hospital (OH); Beverly Anderson, MD, North Suburban Hospital and Rose Medical Center (CO); Charrell M. Bullard, MD, Pinnacle Health Harrisburg Hospital (PA); Antonio Santiago, MD, Presbyterian Hospital of Plano (TX); Delphine M. Eichorst, MD, Presbyterian St. Luke's Medical Center (CO); Jack Jacob, MD, Providence Alaska Medical Center (AK); Mehrdad Asadifar, MD, FAAP, Spring Valley and Summerlin Hospitals (NV); Maria I. Bautista-Navarro, MD, Stormont Vail HealthCare (KS); Martin Anyebuno, MD, Swedish American Hospital (IL).
Pediatrix SoundGene®Study Group Contributors. Bonnie George, RNC, Arnot Ogden Medical Center (NY); Jennifer Combs, MSN, ARNP, Boca Raton Regional Hospital (FL); Christine Weng, RN, and Helen Daley, RN, PhD, Good Samaritan Hospital (CA); Suzanne Norfleet, RN, Integris Baptist Medical Center (OK); Cynthia D. Cannon, Memorial Health University Medical Center (GA); Elizabeth A. Ivey, NNP, Methodist Hospital Germantown (TN); Randolph Rubio, Methodist Metropolitan Hospital (TX); Sue Mackey, RRT, Miami Valley Hospital (OH); Nancy Flavin, NNP, Presbyterian Hospital of Plano (TX); Connie Rusk, NNP, Presbyterian St. Luke's Medical Center (CO); Sharon Hulman, RN, MPH, Providence Alaska Medical Center (AK); Renee Hunt, NNP, Stormont Vail HealthCare (KS).
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