Journal
JOURNAL OF PEDIATRICS
Volume 199, Issue -, Pages 144-+Publisher
MOSBY-ELSEVIER
DOI: 10.1016/j.jpeds.2018.02.064
Keywords
-
Categories
Funding
- National Health Research Institute [NHRI-EX106-10414PC]
- Ministry of Science and Technology of Taiwan [MOST 103-2628-B-002-009-MY4, 106-2314-B-303-010-MY3]
- National Taiwan University Hospital [NTUH 106S-3413]
Ask authors/readers for more resources
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.V371 and c.235deIC 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.V371/p.V371 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.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available