title: Newborn genetic screening for hearing impairment: a preliminary study at a tertiary center.
abstract: Universal newborn hearing screening (UNHS) is of paramount importance for early identification and management of hearing impairment in children. However, infants with slight/mild, progressive, or late-onset hearing impairment might be missed in conventional UNHS. To investigate whether genetic screening for common deafness-associated mutations could assist in identifying these infants, 1017 consecutive newborns in a tertiary hospital were subjected to both newborn hearing screening using a two-step distortion-product otoacoustic emissions (DPOAE) screening and newborn genetic screening (NGS) for deafness. The NGS targeted 4 deafness-associated mutations commonly found in the Taiwanese population, including p.V37I (c.109G>A) and c.235delC of the GJB2 gene, c.919-2A>G of the SLC26A4 gene, and mitochondrial m.1555A>G of the 12S rRNA gene. The results of the NGS were then correlated to the results of the NHS. Of the 1017 newborns, 16 (1.6%) had unilateral DPOAE screening failure, and 22 (2.2%) had bilateral DPOAE screening failure. A total of 199 (19.6%) babies were found to have at least 1 mutated allele on the NGS for deafness, 11 (1.1%) of whom were homozygous for GJB2 p.V37I, 6 (0.6%) compound heterozygous for GJB2 p.V37I and c.235delC, and 1 (0.1%) homoplasmic for m.1555A>G, who may potentially have hearing loss. Among them, 3 babies, 5 babies, and 1 baby, respectively, passed the NHS at birth. Comprehensive audiological assessments in the 9 babies at 3 months identified 1 with slight hearing loss and 2 with mild hearing loss. NGS for common deafness-associated mutations may identify infants with slight/mild or potentially progressive hearing impairment, thus compensating for the inherent limitations of the conventional UNHS.
authors.affiliation: Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan.
authors.forename: Chen-Chi
authors.initials: CC
authors.lastname: Wu
authors.forename: Chia-Cheng
authors.initials: CC
authors.lastname: Hung
authors.forename: Shin-Yu
authors.initials: SY
authors.lastname: Lin
authors.forename: Wu-Shiun
authors.initials: WS
authors.lastname: Hsieh
authors.forename: Po-Nien
authors.initials: PN
authors.lastname: Tsao
authors.forename: Chien-Nan
authors.initials: CN
authors.lastname: Lee
authors.forename: Yi-Ning
authors.initials: YN
authors.lastname: Su
authors.forename: Chuan-Jen
authors.initials: CJ
authors.lastname: Hsu
mesh_terms: D001299:Audiometry; D000072259:Connexin 26; D017630:Connexins; D003638:Deafness / Q000175:diagnosis / Q000235:genetics; D031541:Fluorescence Resonance Energy Transfer; D005820:Genetic Testing / Q000379:methods*; D005838:Genotype; D034381:Hearing Loss / Q000175:diagnosis* / Q000235:genetics*; D006320:Hearing Tests; D006579:Heterozygote; D006761:Hospitals; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening / Q000379:methods*; D009691:Nucleic Acid Denaturation; D010351:Patient Discharge
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26