In November 2003, CDC and the Cystic Fibrosis Foundation cosponsored a workshop to review the benefits and risks associated with newborn screening for cystic fibrosis (CF). This report describes new research findings and outlines the recommendations of the workshop. The peer-reviewed evidence presented at the workshop supports the clinical utility of newborn screening for CF. Demonstrated long-...

Infants begin to learn language in the earliest months of life. In the absence of early identification and intervention, infants who are deaf or hard-of-hearing experience significant and lasting deficits in language learning, academic achievement, social-emotional development, and quality of life. Evidence is mounting that early identification of infants who are deaf or hard of hearing through...

Soon after Guthrie (1) expanded newborn screening by adding galactosemia, maple syrup urine disease (MSUD), and homocystinuria to the original screening for phenylketonuria (PKU), he realized that screening would be more efficient and comprehensive if a single assay could be used to detect several disorders rather than the system of a separate bacterial assay for each disorder that he had devel...

Objective. The universal newborn hearing screening program has been implemented in the Philippines for past ten years. However, rates country are still low. current study aimed to describe (UNHSP) delivery system Rizal, Philippines, and Northern California. Methods. utilized a case research design using data triangulation of FGD, KII, document review characterize compare implementation Univers...

OBJECTIVES To determine: (i) the national status of newborn hearing screening services in the private health care sector of South Africa; (ii) screening approaches implemented; and (iii) challenges to screening implementation. DESIGN A descriptive national survey in the private sector of South Africa was conducted within a quantitative paradigm. METHOD All private health sector institutions...

After completing this article, readers should be able to: 1. Describe the prevalence and burden of hearing impairment. 2. Delineate the “gold” and “proxy” gold standards for measuring hearing impairment. 3. Describe the screening tests currently used to detect newborn hearing impairment. 4. Identify the advantages and disadvantages of universal newborn hearing screening. 5. Describe appropriate...

background and aim: otoacoustic emissions (oae) and automated auditory brainstem response (aabr) are the most commonly-used methods for universal neonatal hearing screening (unhs). various sensitivity and specificity rates have been reported for the oae and aabr tests as tools for screening newborn hearing. the main objective of this review was to determine the pooled sensitivity and pooled spe...

BACKGROUND AND AIMS Increased propionylcarnitine levels in newborn screening are indicative for a group of potentially severe disorders including propionic acidemia (PA), methylmalonic acidemias and combined remethylation disorders (MMACBL). This alteration is relatively non-specific, resulting in the necessity of confirmation and differential diagnosis in subsequent tests. Thus, we aimed to de...

Importance Congenital cytomegalovirus (cCMV) infection is a major cause of childhood deafness. Most cCMV infections are not diagnosed without newborn screening, resulting in missed opportunities for directed care. Objective To estimate the cost-effectiveness of universal and targeted newborn cCMV screening programs compared with no cCMV screening. Design, Setting, and Participants Models we...

Using a data set of newborn screening specimens tested by the New England Newborn Screening Program (NENSP) between January 1999 and February 2003, we analyzed the number of infants with positive newborn screening results and determined how many positive screening results were due to a recent multiplex expansion of services in some of the states. We found that for the subset of the 4-year cohor...