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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.

SUBMITTER: Wu CC

PROVIDER: S-EPMC3139636 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature

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Newborn genetic screening for hearing impairment: a preliminary study at a tertiary center.

Wu Chen-Chi CC Hung Chia-Cheng CC Lin Shin-Yu SY Hsieh Wu-Shiun WS Tsao Po-Nien PN Lee Chien-Nan CN Su Yi-Ning YN Hsu Chuan-Jen CJ

PloS one 20110719 7

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-s ...[more]

PMID: 21811586

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Project description:IntroductionHearing loss is the most common congenital condition screened for at birth in the United States, and more than 95% of newborns are currently screened for hearing. Newborn hearing screening is most effective when infants receive timely and effective interventions. Unfortunately, follow-up rates for newborns not passing their initial hearing screenings are as low as 50% in some states. Midwives are well-positioned to encourage families to follow-up with their neonatal providers when newborns are referred for further testing. Newborn hearing screening is a relatively new practice in the United States and, to date, there has been no research regarding the informational needs and practices of certified nurse-midwives or certified midwives related to hearing screening. This study examined the knowledge, attitudes, and follow-up practices of midwives related to newborn hearing screening and intervention.MethodsA survey instrument was developed and sent to 5255 American College of Nurse-Midwives members in 50 states and 2 territories.ResultsFive hundred and eighteen surveys were returned, yielding a response rate of 9.9%. Only 68% of respondents said it was very important to screen all newborns for hearing loss. Respondents reported significant gaps in their knowledge about screening procedures, steps for referral, and the availability of resources when newborns did not pass the test. Midwives also reported the need for information about hearing loss conditions and genetics, screening guidelines, protocols for follow-up, referral networks, and therapies available.DiscussionCurrent practices in newborn hearing screening and intervention programs can be enhanced by strengthening the basic midwifery knowledge of and rationale for follow-up when newborns fail their hearing screenings. Midwives can play an integral role in optimizing hearing, speech, and family interaction by assuring that each newborn has access to the best hearing screening and referrals.

Project description:ObjectivesHearing loss is one of the most prevalent congenital disorders among children. Many countries have implemented universal newborn hearing screening (UNHS) for the early diagnosis and treatment of hearing loss. Despite widespread implementation, the value for money of UNHS is unclear due to lack of cost and outcomes data from rigorous study designs. The objective of this research is to conduct a within-study cost-effectiveness analysis of UNHS compared with targeted screening (targeting children with risk factors of hearing loss) from the Australian healthcare system perspective. This evaluation is the first economic evaluation to assess the cost-effectiveness of UNHS compared to targeted screening using real-world data from a natural experiment.DesignThe evaluation assumed the Australian healthcare system perspective and considered a time horizon of 5 years. Utilities were estimated using responses to the Health Utilities Index Mark III. Screening costs were estimated based on the Victorian Infant Hearing Screening Program. Ongoing costs were estimated based on administrative data, while external data sources were used to estimate costs related to hearing services. Missing data were handled using the multiple imputation method. Outcome measures included quality-adjusted life years (QALYs) and four language and communication-related outcomes: Peabody Picture Vocabulary Test, Wechsler Nonverbal Scale of Ability, Progressive Achievement Test, and comprehensive, expressive, and total language scores based on the Preschool Language Scale.ResultsOn average, the UNHS cost an extra Australian dollar (A$)22,000 per diagnosed child and was associated with 0.45 more QALYs per diagnosed child compared with targeted screening to 5 years, resulting in an incremental cost-effectiveness ratio (ICER) of A$48,000 per QALY gained. The ICERs for language outcomes lay between A$3,900 (for expressive language score) and A$83,500 per one-point improvement in language score (for Wechsler Nonverbal Scale of Ability). UNHS had a 69% probability of being more cost-effective compared to targeted screening at a willingness to pay threshold of A$60,000 per QALY gained. ICERs were most sensitive to the screening costs.ConclusionsThe evaluation demonstrated the usefulness of a within-study economic evaluation to understand the value for money of the UNHS program in the Australian context. Findings from this evaluation suggested that screening costs were the key driver of cost-effectiveness results. Most outcomes were not significantly different between UNHS and targeted screening groups. The ICER may be overestimated due to the short follow-up period. Further research is warranted to include long-term resource use and outcome data, late diagnosis, transition and remission between severity levels, and timing of diagnosis and treatment.

Dataset Information

Newborn genetic screening for hearing impairment: a preliminary study at a tertiary center.

Publications

Newborn genetic screening for hearing impairment: a preliminary study at a tertiary center.

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