PINSA (Provision of Information about Newborn Screening Antenatally): The Provision of antenatal Information for the NHS Newborn Bloodspot Screening Programme (NBSP)

2013 ◽  
Author(s):  
Fiona Ulph
Keyword(s):  
Newborn Screening ◽  
Screening Programme ◽  
Newborn Bloodspot Screening

scholarly journals Successful Implementation of Newborn Screening for Hemoglobin Disorders in the Philippines

2021 ◽  
Vol 7 (2) ◽  
pp. 30
Author(s):  
Carmencita D. Padilla ◽  
Bradford L. Therrell ◽  
Maria Melanie Liberty B. Alcausin ◽  
Reynaldo C. de Castro ◽  
Maria Beatriz P. Gepte ◽  
...  
Keyword(s):  
Newborn Screening ◽  
High Performance ◽  
Population Data ◽  
The Philippines ◽  
Successful Implementation ◽  
Clinical Experiences ◽  
Term Care ◽  
Confirmatory Testing ◽  
Newborn Bloodspot Screening

The Philippine newborn bloodspot screening (NBS) program began in 1996 with 24 hospitals and was formalized by legislation in 2004. The NBS panel was recently expanded to include a number of additional hereditary congenital conditions. Expertise and experiences from other NBS programs already screening for hemoglobinopathies were essential to its successful integration into the ongoing dried bloodspot NBS program in the Philippines. Building on clinical experiences and population data from Filipinos born in California, USA, hemoglobinopathies (including thalassemias) were selected for inclusion in the expanded screening panel. Hemoglobinopathy NBS, using high performance liquid chromatography, was implemented in a stepwise manner into the seven regional NBS screening laboratories. A central university laboratory provides confirmatory testing using both capillary electrophoresis and molecular methodologies. NBS results indicating carriers are followed up with educational fact sheets, while results of presumptive disease are referred for confirmatory testing and follow-up with a hematologist. Long-term care is provided through newborn screening continuity clinics across the country. Hemoglobinopathy NBS is now included in the national insurance package and screening uptake continues to increase nationally, exceeding 90% of all newborns in 7400+ hospitals and birthing centers nationwide prior to the COVID-19 pandemic.

Development of the phenylketonuria screening programme in Estonia

1998 ◽  
Vol 5 (1) ◽  
pp. 22-23 ◽  
Author(s):  
K Õunap ◽  
H Lilleväli ◽  
A Metspalu ◽  
M Lipping-Sitska
Keyword(s):  
Retrospective Study ◽  
Prospective Study ◽  
Newborn Screening ◽  
Filter Paper ◽  
Screening Programme ◽  
European Countries ◽  
Diagnosis And Treatment ◽  
Fluorometric Method ◽  
Live Births ◽  
Ninhydrin Reaction

Objective To develop the phenylketonuria (PKU) screening programme in Estonia. Method All data about patients with PKU, born during 1980–92, were documented to establish its prevalence at birth in Estonia. Newborn screening for the diagnosis and treatment of PKU was started in Estonia in 1993 and the prevalence at birth established by screening. Phenylalanine was determined from filter paper blood by a modified fluorometric method based on enhancement of the fluorescence of a phenylalanine-ninhydrin reaction product by L-leucyl-L-alanine. Results During three years (1993–5) 36 074 newborns (85% of the total) were screened for PKU. PKU was diagnosed in six cases during the first four to six weeks of life. All investigated cases could be classified as classical PKU. No cases of mild forms of hyperphenylalaninaemia were diagnosed. The retrospective study showed an average incidence of PKU of 1 in 8090, the prospective study identified a comparable incidence of 1 in 6010 live births. Conclusion The prevalence at birth of classic PKU in Estonia is higher than the average in Europe and similar to that of some eastern and middle European countries.

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
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