International Journal of Neonatal Screening, Volume 4, Issue 2

The incidence of Severe Combined Immunodeficiency (SCID) in Manitoba, (1/15,000), is at least three to four times higher than the national average and that reported from other jurisdictions. It is overrepresented in two population groups: Mennonites...

Evidence-based guidelines for the prevention, diagnosis and treatment of congenital cytomegalovirus (cCMV) were recently released by two independent expert groups. Of particular emphasis was the relationship between cCMV and sensorineural hearing los...

To identify the 3-year follow-up management and education patterns of primary care clinicians and pediatric endocrinologists for children diagnosed with congenital hypothyroidism (CH) through newborn screening programs, the Region 4 Midwest Genetics...

From 15–16 June 2018, the 25th Annual Meeting of the German Society for Newborn Screening (Deutsche Gesellschaft für Neugeborenenscreening, DGNS) was held at the Van Swieten Hall of the Medical University of Vienna, Vienna, Austria. For th...

Newborn screening (NBS) identifies infants with rare conditions to prevent death or the onset of irreversible morbidities. Conditions on the Health and Human Services Secretary’s Recommended Uniform Screening Panel have been adopted by most sta...

In January 2017, pulse oximetry screening was legally implemented in routine neonatal care in Germany. The preceding developments, which were the prerequisite for this step, are described in the specific context of Germany’s health care system....

The commentary provided by Gentles et al. argues for the implementation of a universal pulse oximetry screening program, and I agree that, if it is possible, this is the optimum way to introduce this important health care measure for all of the reaso...

We read the review article by Kluckow M (Barriers to the Implementation of Newborn Pulse Oximetry Screening[...]

The expanded newborn screening for selected inborn errors of metabolism (IEM) in Sicily was introduced in 2007 by a Regional project entitled “Early detection of congenital metabolic diseases: expanded neonatal screening”. It established two newborn...

Neonatal screening for critical congenital heart defects is proven to be safe, accurate, and cost-effective. The screening has been implemented in many countries across all continents in the world. However, screening for critical congenital heart def...