The expansion of the newborn screen in 2005 with tandem mass spectrometry has improved our understanding of some inborn errors of metabolism and their actual incidence and prevalence. Continuous optimization of the process is required; the success of the newborn screening program ultimately rests not...
After the advantages of newborn screening entered the limelight, nearly every state in the U.S made it compulsory to conduct the tests. Today, it is amongst the most effective, equitable public health programs that screen every child born in the country. In the 1960s, there was only one ...
A list of which screening tests are provided by each state can be found on the March of Dimes Web site at marchofdimes.com/peristats , which is updated regularly, or at the National Newborn Screening and Genetics Resource Center Web site at genes-r-us.uthscsa.edu . Source: March of Di...
The range of applications performed on dried blood spots (DBS) widely broadened during the past decades to now include next-generation sequencing (NGS). Previous publications provided a general overview of NGS capacities on DBS-extracted DNA but did not focus on the identification of specific disord...
Dried blood spot tests (DBS) are expected to continue their domination during the forecast period. DBS sampling has been used to screen newborn babies for congenital metabolic diseases for over 50 years. The advantages of DBS sampling include minimal volume requirements (approximately 30 - 100 µ...
12 This is true for tests that screen for congenital disorders, but it is just as important for many future tests that screen for disease risk in older individuals.21 The implementation of these potentially valuable tests may be limited by societal anxiety about the potential harms from the ...
The screen consisted of biochemical screening tests and a targeted gene panel sequencing test for 128 conditions. The biochemical and genomic tests could both detect 43 of the conditions, whereas the other 85 conditions were screened solely by the gene panel. Main Outcomes and Measures The primary...
All 28 conditions included in the expanded newborn screen saw a substantial increase in the percentage of residents who chose them correctly on the post- presentation questionnaire, a good indication that these condi- tions were unfamiliar to most participants before the presenta- tion of the ...
Overall, 30.0% of tests were found to be negative for all substances (328), 54.0% positive for a single substance (588), and 15.8% positive for 2 or more (172); these findings did not differ across race and ethnicity groups (P = .32). A total of 471 newborn drug tests (...
and endorsed by the Secretary's Advisory Committee on Heritable Disorders in newborns and children.7,8 NBS in the US is largely a compulsory, state-supported activity, justified on the basis of protecting child welfare.1 In Canada, NBS programmes screen from 5 to 38 disorders depending on the...