Newborn genetic screening for hearing impairment: a population-based longitudinal study.
The feasibility of genetic screening for deafness-causing mutations in newborns has been reported in several studies. The aim of this study was to investigate the long-term results in those who screened positive for deafness mutations; these results are crucial to determine the cost-effectiveness to justify population-wide genetic screening.



We performed simultaneous hearing screening and genetic screening targeting four common deafness mutations (p.V37I and c.235delC of GJB2, c.919-2A>G of SLC26A4, and the mitochondrial m.1555A>G) in 5173 newborns at a tertiary hospital between 2009 and 2015. Serial audiometric results up to 6 years old were then analyzed in children with conclusive genotypes.



Newborn genetic screening identified 82 (1.6%) babies with conclusive genotypes, comprising 62 (1.2%) with GJB2 p.V37I/p.V37I, 16 (0.3%) with GJB2 p.V37I/c.235delC, and 4 (0.1%) with m.1555A>G. Of these, 46 (56.1%) passed hearing screening at birth. Long-term follow-up demonstrated progressive hearing loss in children with the GJB2 p.V37I/p.V37I and p.V37I/c.235delC genotypes; this hearing loss deteriorated by approximately 1 decibel hearing level (dBHL) per year.



We delineated the longitudinal auditory features of the highly prevalent GJB2 p.V37I mutation on a general population basis and confirmed the utility of newborn genetic screening in identifying infants with late-onset or progressive hearing impairment undetectable by newborn hearing screening.Genet Med 19 1, 6-12.
Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan.|Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
Chen-Chi
0000-0002-5047-2204
CC
Wu
Institute of Epidemiology and Preventive Medicine, National Taiwan University College of Public Health, Taipei, Taiwan.
Ching-Hui
CH
Tsai
Graduate Institute of Medical Genomics and Proteomics, National Taiwan University College of Medicine, Taipei, Taiwan.|Sofiva Genomics Co., Ltd., Taipei, Taiwan.
Chia-Cheng
0000-0002-1876-8208
CC
Hung
Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan.|Graduate Institute of Medical Genomics and Proteomics, National Taiwan University College of Medicine, Taipei, Taiwan.
Yin-Hung
YH
Lin
Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan.
Yi-Hsin
YH
Lin
Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan.
Fang-Li
FL
Huang
Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
Po-Nien
PN
Tsao
Sofiva Genomics Co., Ltd., Taipei, Taiwan.|Dianthus Maternal Fetal Medicine Clinic, Taipei, Taiwan.|Department of Obstetrics and Gynecology, School of Medicine, Taipei Medical University, Taipei, Taiwan.
Yi-Ning
YN
Su
Institute of Epidemiology and Preventive Medicine, National Taiwan University College of Public Health, Taipei, Taiwan.|Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.
Yungling Leo
YL
Lee
Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
Wu-Shiun
WS
Hsieh
Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan.|Department of Otolaryngology, Taichung Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Taichung, Taiwan.
Chuan-Jen
0000-0002-5047-2204
CJ
Hsu
D001299:Audiometry; D002648:Child; D002675:Child, Preschool; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics; D005260:Female; D005838:Genotype; D034381:Hearing Loss / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation; D015997:Neonatal Screening; D000076988:Sulfate Transporters
D017630:Connexins; D004272:DNA, Mitochondrial; C000607042:GJB2 protein, human; D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters; D000072259:Connexin 26