scholarly journals A newborn screening programme for congenital toxoplasmosis in the setting of a country with less income

2007 ◽  
Vol 92 (1) ◽  
pp. 88-88 ◽  
Author(s):  
J E Gomez-Marin ◽  
M M Gonzalez ◽  
M T Montoya ◽  
A Giraldo ◽  
J C Castano
Keyword(s):  
Newborn Screening ◽  
Screening Programme ◽  
Congenital Toxoplasmosis ◽  
Newborn Screening Programme

scholarly journals Evaluation of a Two-Tier Screening Pathway for Congenital Adrenal Hyperplasia in the New South Wales Newborn Screening Programme

2020 ◽  
Vol 6 (3) ◽  
pp. 63
Author(s):  
Fei Lai ◽  
Shubha Srinivasan ◽  
Veronica Wiley
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Newborn Screening ◽  
Screening Programme ◽  
New South ◽  
New South Wales ◽  
Policy Framework ◽  
Adrenal Crisis ◽  
Adrenal Hyperplasia ◽  
Newborn Screening Programme ◽  
South Wales

In Australia, all newborns born in New South Wales (NSW) and the Australia Capital Territory (ACT) have been offered screening for rare congenital conditions through the NSW Newborn Screening Programme since 1964. Following the development of the Australian Newborn Bloodspot Screening National Policy Framework, screening for congenital adrenal hyperplasia (CAH) was included in May 2018. As part of the assessment for addition of CAH, the national working group recommended a two-tier screening protocol determining 17α-hydroxyprogesterone (17OHP) concentration by immunoassay followed by steroid profile. A total of 202,960 newborns were screened from the 1 May 2018 to the 30 April 2020. A threshold level of 17OHP from first tier immunoassay over 22 nmol/L and/or top 2% of the daily assay was further tested using liquid chromatography tandem mass spectrometry (LC-MS/MS) steroid profiling for 17OHP (MS17OHP), androstenedione (A4) and cortisol. Samples with a ratio of (MS17OHP + A4)/cortisol > 2 and MS17OHP > 200 nmol/L were considered as presumptive positive. These newborns were referred for clinical review with a request for diagnostic testing and a confirmatory repeat dried blood spot (DBS). There were 10 newborns diagnosed with CAH, (9 newborns with salt wasting CAH). So far, no known false negatives have been notified, and the protocol has a sensitivity of 100%, specificity of 99.9% and a positive predictive value of 71.4%. All confirmed cases commenced treatment by day 11, with none reported as having an adrenal crisis by the start of treatment.

Next generation sequencing as a follow-up test in an expanded newborn screening programme

2018 ◽  
Vol 52 ◽  
pp. 48-55 ◽  
Author(s):  
Andraz Smon ◽  
Barbka Repic Lampret ◽  
Urh Groselj ◽  
Mojca Zerjav Tansek ◽  
Jernej Kovac ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Newborn Screening ◽  
Screening Programme ◽  
Next Generation ◽  
Newborn Screening Programme ◽  
Expanded Newborn Screening ◽  
Generation Sequencing

scholarly journals Establishment and Development of a National Newborn Screening Programme for Congenital Hypothyroidism in Turkey

2013 ◽  
Vol 5 (2) ◽  
pp. 73-79 ◽  
Author(s):  
Dilli Dilek ◽  
Özbaş Sema ◽  
Acıcan Deniz ◽  
Yamak Nergiz ◽  
Ertek Mustafa ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Congenital Hypothyroidism ◽  
Screening Programme ◽  
Newborn Screening Programme

Survival of children with sickle cell disease in the comprehensive newborn screening programme in Minas Gerais, Brazil

2015 ◽  
Vol 35 (4) ◽  
pp. 329-332 ◽  
Author(s):  
Alessandra Palhoni Sabarense ◽  
Gabriella Oliveira Lima ◽  
Lvia Maria Lellis Silva ◽  
Marcos Borato Viana
Keyword(s):  
Sickle Cell Disease ◽  
Newborn Screening ◽  
Sickle Cell ◽  
Screening Programme ◽  
Minas Gerais ◽  
Cell Disease ◽  
Newborn Screening Programme
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