Chun-Yi Lu1, Po-Nien Tsao1, Ying-Ying Ke2, Yi-Hsin Lin3, Yin-Hung Lin4, Chia-Cheng Hung5, Yi-Ning Su6, Wei-Chung Hsu7, Wu-Shiun Hsieh8, Li-Min Huang1, Chen-Chi Wu9, Chuan-Jen Hsu10. 1. Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan. 2. Graduate Institute of Molecular Medicine, National Taiwan University College of Medicine, Taipei, Taiwan; Sofiva Genomics Co, Ltd, Taipei, Taiwan. 3. Graduate Institute of Molecular Medicine, National Taiwan University College of Medicine, Taipei, Taiwan; Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan. 4. Graduate Institute of Molecular Medicine, National Taiwan University College of Medicine, Taipei, Taiwan; Graduate Institute of Medical Genomics and Proteomics, National Taiwan University College of Medicine, Taipei, Taiwan; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan. 5. Sofiva Genomics Co, Ltd, Taipei, Taiwan. 6. Sofiva Genomics Co, Ltd, Taipei, Taiwan; Department of Gynecology and Maternity, Dianthus Maternal Fetal Medicine Clinic, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, Taipei Medical University, Taipei, Taiwan. 7. Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan. 8. Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan; Department of Pediatrics, Cathay General Hospital, Taipei, Taiwan. 9. Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan. Electronic address: chenchiwu@ntuh.gov.tw. 10. Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan; Department of Otolaryngology, Taichung Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Taichung, Taiwan.
Abstract
OBJECTIVE: To evaluate the feasibility and potential benefits of incorporating genetic and cytomegalovirus (CMV) screenings into the current newborn hearing screening (NHS) programs. STUDY DESIGN: Newborns were recruited prospectively from a tertiary hospital and a maternity clinic between May 2016 and December 2016 and were subjected to hearing screening, CMV screening, and genetic screening for 4 common mutations in deafness genes (p.V37I and c.235delC of GJB2 gene, c.919-2A>G of SLC26A4 gene, and the mitochondrial m.1555A>G). Infants with homozygous nuclear mutations or homoplasmic/heteroplasmic mitochondrial mutation (referred to as "conclusively positive genotypes") and those who tested positive for CMV received diagnostic audiologic evaluations. RESULTS: Of the total 1716 newborns enrolled, we identified 20 (1.2%) newborns with conclusively positive genotypes on genetic screening, comprising 15 newborns (0.9%) with GJB2 p.V37I/p.V37I and 5 newborns (0.3%) with m.1555A>G. Three (0.2%) newborns tested positive on CMV screening. Twelve of the 20 newborns (60%) with conclusively positive genotypes and all 3 newborns who tested positive for CMV (100%) passed NHS at birth. Diagnostic audiologic evaluations conducted at 3 months confirmed hearing impairment in 6 of the 20 infants (30%) with conclusively positive genotypes. CONCLUSIONS: This study confirms the feasibility of performing hearing, genetic, and CMV screenings concurrently in newborns and provides evidence that the incorporation of these screening tests could potentially identify an additional subgroup of infants with impaired hearing that might not be detected by the NHS programs.
OBJECTIVE: To evaluate the feasibility and potential benefits of incorporating genetic and cytomegalovirus (CMV) screenings into the current newborn hearing screening (NHS) programs. STUDY DESIGN: Newborns were recruited prospectively from a tertiary hospital and a maternity clinic between May 2016 and December 2016 and were subjected to hearing screening, CMV screening, and genetic screening for 4 common mutations in deafness genes (p.V37I and c.235delC of GJB2 gene, c.919-2A>G of SLC26A4 gene, and the mitochondrial m.1555A>G). Infants with homozygous nuclear mutations or homoplasmic/heteroplasmic mitochondrial mutation (referred to as "conclusively positive genotypes") and those who tested positive for CMV received diagnostic audiologic evaluations. RESULTS: Of the total 1716 newborns enrolled, we identified 20 (1.2%) newborns with conclusively positive genotypes on genetic screening, comprising 15 newborns (0.9%) with GJB2p.V37I/p.V37I and 5 newborns (0.3%) with m.1555A>G. Three (0.2%) newborns tested positive on CMV screening. Twelve of the 20 newborns (60%) with conclusively positive genotypes and all 3 newborns who tested positive for CMV (100%) passed NHS at birth. Diagnostic audiologic evaluations conducted at 3 months confirmed hearing impairment in 6 of the 20 infants (30%) with conclusively positive genotypes. CONCLUSIONS: This study confirms the feasibility of performing hearing, genetic, and CMV screenings concurrently in newborns and provides evidence that the incorporation of these screening tests could potentially identify an additional subgroup of infants with impaired hearing that might not be detected by the NHS programs.