Hispanic Infants with Cystic Fibrosis Show Low CFTR Mutation Detection Rates in the Illinois Newborn Screening Program

2012 ◽  
Vol 21 (5) ◽  
pp. 671-675 ◽  
Author(s):  
Kimberly Danieli Watts ◽  
Benjamin Layne ◽  
Ann Harris ◽  
Susanna A. McColley
Keyword(s):  
Cystic Fibrosis ◽  
Newborn Screening ◽  
Mutation Detection ◽  
Screening Program ◽  
Newborn Screening Program ◽  
Detection Rates

P016 First results from national newborn screening program for cystic fibrosis in the Republic of North Macedonia

2020 ◽  
Vol 19 ◽  
pp. S59
Author(s):  
S. Fustikj ◽  
V. Anastasovska ◽  
D. Plaseska Karanfilska ◽  
L. Spirevska ◽  
M. Pesevska ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Newborn Screening ◽  
Screening Program ◽  
Newborn Screening Program ◽  
First Results ◽  
The Republic

scholarly journals 17 Pilot newborn screening program for cystic fibrosis in Uruguay: IRT-PAP

2012 ◽  
Vol 11 ◽  
pp. S59
Author(s):  
M. Machado ◽  
L. Corbo ◽  
L. Tardeo ◽  
G. Queiruga
Keyword(s):  
Cystic Fibrosis ◽  
Newborn Screening ◽  
Screening Program ◽  
Newborn Screening Program

Implementation of the French Nationwide Cystic Fibrosis Newborn Screening Program

2008 ◽  
Vol 153 (2) ◽  
pp. 228-233.e1 ◽  
Author(s):  
Anne Munck ◽  
Jean-Louis Dhondt ◽  
Camille Sahler ◽  
Michel Roussey
Keyword(s):  
Cystic Fibrosis ◽  
Newborn Screening ◽  
Screening Program ◽  
Newborn Screening Program

scholarly journals Newborn Screening for Selected Disorders in Nepal: A Pilot Study

2019 ◽  
Vol 5 (2) ◽  
pp. 18 ◽  
Author(s):  
Sharma Pandey ◽  
Joshi ◽  
Rajbhandari ◽  
Kansakar ◽  
Dhakal ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Newborn Screening ◽  
Metabolic Disorders ◽  
Screening Program ◽  
Case Reports ◽  
Thyroid Stimulating Hormone ◽  
Newborn Screening Program ◽  
Gestation Age ◽  
Tandem Mass Spectroscopy ◽  
Heel Prick

The prevalence of metabolic disorders in Nepal is yet unknown, although many case reports occur in literature. Heel-prick blood samples from newborns were collected on Dried Blood Spot (DBS) collection cards and tested through Tandem Mass Spectroscopy and fluorescence assays for disorders included in the Swiss neonatal screening program; two cases of hypothyroidism and one case of cystic fibrosis were identified. Thyroid stimulating hormone (TSH), immuoreactive trypsinogen (IRT), hydroxyprogesterone (OHP), tyrosine (Tyr), and octanoylcarnitine (C8) showed significant differences with gestation age. Most of the parameters were positively correlated with each other except galactose, galactose 1 phosphate uridyl transferase (GALT), and biotinidase. First and ninety-ninth percentiles in the Nepalese newborns were found to be different when compared with the Swiss newborns. Congenital hypothyroidism and cystic fibrosis are candidates to be considered for a newborn screening program in Nepal. Differences between the Nepalese and Swiss newborns in parametric values that change with gestation age can be attributed to a higher survival rate of pre-term babies in Switzerland. Others could be explained in part by early and exclusive breastfeeding in Nepalese newborns.

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