Newborn screening (NBS) is a public health program aimed at identifying treatable conditions in presymptomatic newborns to avoid premature mortality, morbidity, and disabilities. Currently, every newborn in the Unites States is screened for at least 29 conditions where evidence suggests that early detection is possible and beneficial. With new or…

In this activity, freshman college students learn biotechnology techniques while playing the role of a laboratory technician. They perform simulations of three diagnostic tests used to screen newborns for cystic fibrosis. By performing an ELISA, a PCR analysis, and a conductivity test, students learn how biotechnology techniques can be used to…

This essay is based on a keynote address, "A Tour of the Horizons," presented to the 2012 annual conference of the Association of College Educators/Deaf and Hard of Hearing (ACE/DHH), held in Atlantic Beach, Florida.

After agreeing to host over 200 students on a daylong genetics field trip, the author needed an easy-to-prepare genetics experiment to accompany the DNA-necklace and gel-electrophoresis activities already planned. One of the student's mothers is a pediatric physician at the local hospital, and she suggested exploring genetic-disease screening…

Public policy surrounding newborn screening is in flux. New technology allows more screening for more diseases at lower cost. Traditional criteria for target diseases have been criticized by leading health policymakers. The example of newborn screening for Krabbe disease highlights many of the dilemmas associated with population-based screening…

Newborn screening (NBS), since its implementation in the 1960s, has traditionally been successful in reducing mortality and disability in children with a range of different conditions. Lysosomal storage disorders (LSD) are a heterogeneous group of inherited metabolic diseases that result from lysosomal dysfunction. Based on available treatment and…

The birth of a child is among the most joyous events human beings ever experience. After months of anticipation and preparation, a precious little one joins a family. Parents dream of the things they will do with this new arrival, the birthdays, the family vacations, the continuing of family traditions. Above all, parents hope to provide the best…

In the last decade, China began developing early intervention services for very young children with hearing loss, and their families. This article presents a broad description of some of these programs, including the national rehabilitation networks for speech and hearing training, increased attention on the development of professionals, the…

Newborn screening is a test done on every child born in the US shortly after birth to detect diseases where, if not diagnosed and treated in the newborn period, the child will suffer significant trauma, disability or die. A few drops of blood from each baby's heel is put on a card and sent to the state's public health lab for testing. Most states…

For years "Exceptional Parent" ("EP") has been offering educational information and support to those challenged with disabilities and takes an equally pro-active role in disseminating vital information that could potentially prevent disabilities. This is evidenced by its past and ongoing efforts in being a proponent and champion for comprehensive…

In its eight years of operation, a British Columbia program to identify hearing loss in newborns has been duplicated at 19 regional sites. Summary data are presented for incidence of loss as well as type (sensorineural, conductive, or mixed). (CL)

Expansion of newborn screening (NBS) has been driven primarily by a combination of advances in technology and medical treatment, and the sustained advocacy efforts of consumers and voluntary health organizations. The longstanding leadership of the March of Dimes has been credited by many as a critical factor in the expansion and improvement of…

Recent changes in genetics research have created new opportunities to improve the scope and quality of newborn screening services. Changes in newborn screening should be supported and directed by an organized program of research. The NICHD Research Initiative in Newborn Screening includes the development of systematic methods to identify…

The article gives a select overview of the purpose, process, and procedures which are involved in neonatal vision screening. Significant responses and reactions worth noting are outlined so an evaluator might have an indication of what to look for in using such a tool. (Author)

This article presents results from a narrative interview study of 45 parents/caregivers whose infants were correctly identified as deaf through Phase 1 of the Newborn Hearing Screening Programme in England. It concerns the period from the first screening event to the point of referral for audiological assessment. It focuses on the meanings parents…