ObjectiveDetermine the detection rate from an expanded targeted early cytomegalovirus (CMV) testing program implemented from a large healthcare system (Intermountain Healthcare, IHC).Study DesignRetrospective review.SettingTertiary medical center.MethodsAn electronic system was modified to include indications for testing whenever a provider placed an order for CMV testing. A retrospective analysis of this database was performed.ResultsFrom March 1, 2021 to August 31, 2022, there were 3450 (8.8%) patients who underwent CMV testing out of 39,245 total live births within the IHC system. Since the formal implementation of this program in 2019, annual CMV testing has increased almost 10‐fold: 2668 CMV tests were performed in 2021 compared to 289 CMV tests in 2015. The most frequent indication for congenital CMV (cCMV) testing was small for gestational age (SGA) (68.2%), followed by macrocephaly (13.5%), an abnormal hearing test (5.0%), and microcephaly (4.4%). Fourteen cCMV‐infected infants were diagnosed all of them meeting the criteria for symptomatic cCMV. The most common indication resulting in a positive diagnosis was those who presented with SGA (n = 10 patients). The positivity rate would result in a prevalence of 35.7 symptomatic cCMV cases diagnosed per 100,000 live births, numbers comparable to those expected for universal cCMV screening.ConclusionAn expanded targeted early cCMV testing program may improve detection rates of symptomatic cCMV cases and should be considered as a feasible alternative approach to universal or hearing‐targeted early CMV testing.
ObjectiveTo identify outcomes in hearing loss (HL) diagnosis and intervention in infants with a failed newborn hearing screen (NBHS) and otitis media with effusion (OME) compared to those with failed NBHS and without OME.Study DesignRetrospective review.SettingTertiary medical center.MethodsA chart review was performed on infants referred to Primary Children's Hospital for failed NBHS from 2012 to 2018. Eighty infants with failed NBHS and OME and 55 with failed NBHS and no OME were included. Incidence of permanent HL along with the age of HL confirmation and early intervention (EI) enrollment were compared.ResultsThe incidence of OME in infants with failed NBHS was 59.3%. Fifty‐six percent of infants with OME and 12.5% of those without OME did not receive definitive hearing confirmation in either ear due to loss to follow‐up or insufficient audiometric assessment. Permanent HL was identified in 11.3% (n = 9) of infants with OME and in 20.0% (n = 11) of those without OME. Infants with OME were significantly older at the time of HL confirmation (4.2 ± 2.1 months) and EI enrollment (5.4 ± 2.5 months) compared to those without OME at the time of HL confirmation (1.0 ± 1.0 months; p < .001) and EI enrollment (2.6 ± 1.8 months; p = .04).ConclusionInfants with failed NBHS and OME are highly susceptible to a significant delay in HL confirmation or lack of confirmatory hearing tests. Timely OME resolution with earlier ventilation tube insertion by 3 months of age and follow‐up audiologic assessment is recommended.
Changes in epidermal pigmentation are associated with eye defects in humans and other vertebrates. In the rock pigeon (Columba livia), the sex-linked Almond color pattern is characterized by hypopigmentation of epidermal structures. The trait is controlled by the classical Stipper (St) locus, and homozygous (ZStZSt) Almond males often have severe eye defects. Heterozygous (ZStZ+) and hemizygous (ZStW) pigeons do not typically have obvious eye defects, suggesting that higher dosage of the mutant allele is deleterious. Because Almond pigeons have pronounced hypopigmentation in epidermal structures, we hypothesized that they might also have reduced eye pigmentation. Here, we examined pigmentation in the iris, ciliary body, anterior retinal pigmented epithelium (RPE), and posterior RPE in pigeons with and without Almond alleles. We found that pigmentation of anterior segment structures was reduced in birds with at least one Almond allele. However, posterior eye pigmentation was substantially reduced only in homozygous Almond birds. We postulate that the gradient of effects on eye pigmentation is due to the different embryological origins of anterior and posterior eye pigment-producing cells.
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