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.

scholarly journals Incidence and Interrelated Factors in Patients With Congenital Hypothyroidism as Detected by Newborn Screening in Guangxi, China

2015 ◽  
Vol 2 ◽  
pp. 2333794X1456719 ◽  
Author(s):  
Xin Fan ◽  
Shaoke Chen ◽  
Jiale Qian ◽  
Suren Sooranna ◽  
Jingi Luo ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Congenital Hypothyroidism ◽  
Screening Program ◽  
Thyroid Stimulating Hormone ◽  
Who Guidelines ◽  
Newborn Screening Program ◽  
Study Results ◽  
Stimulating Hormone

Background. A newborn screening program (NSP) for congenital hypothyroidism (CH) was carried out in Guangxi in order to understand the incidence of CH and the factors interrelated to major types of CH in this region of China. Methods. During 2009 to 2013, data from 930 612 newborns attending NSP in Guangxi were collected. Patients were classified with either permanent CH (PCH) or transient CH (TCH) after 2 years of progressive study. Results. A total of 1210 patients were confirmed with CH with an incidence of 1/769, including 68 PCH and 126 TCH cases with incidences of 1/6673 and 1/3385, respectively. The frequency of thyroid stimulating hormone values greater than 5 mIU/L was 7.2%, which, based on WHO guidelines, suggests that the population was mildly iodine deficient. Conclusions. The incidence of CH was high in Guangxi. Approximately two thirds of CH patients were TCH, which may be due to a deficiency in iodine within the population.

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

Transient Neonatal Hypothyroidism Detected by Newborn Screening Program

PEDIATRICS ◽  
1977 ◽  
Vol 60 (4) ◽  
pp. 538-541
Author(s):  
STEPHEN H. LAFRANCHI ◽  
NEIL R. M. BUIST ◽  
WILLIAM H. MURPHEY ◽  
P. REED LARSEN ◽  
THOMAS P. FOLEY
Keyword(s):  
Newborn Screening ◽  
Filter Paper ◽  
Metabolic Diseases ◽  
Screening Program ◽  
Newborn Infants ◽  
Thyroid Stimulating Hormone ◽  
Newborn Screening Program ◽  
Neonatal Hypothyroidism ◽  
Blood Samples ◽  
Stimulating Hormone

A screening program for the detection of neonatal hypothyroidism has been in effect in Oregon since May 1975. Blood samples are obtained from all newborn infants to test for phenylketonuria and other metabolic diseases. A second specimen is obtained from more than 90% of these infants who are retested at 4 to 6 weeks of age. These Guthrie filter paper blood samples are analyzed for thyroxine (T4), and all samples with a low T4 value are analyzed for thyroid stimulating hormone (TSH). At the outset of the program, it was speculated that the screening might detect infants who had reduced

α-Fetoprotein and Hypothyroidism in Infants

PEDIATRICS ◽  
1992 ◽  
Vol 90 (6) ◽  
pp. 1008-1009
Author(s):  
G. J. MIZEJEWSKI ◽  
K. A. PASS
Keyword(s):  
New York ◽  
Newborn Screening ◽  
Congenital Hypothyroidism ◽  
Screening Program ◽  
New York State ◽  
Elevated Serum ◽  
Thyroid Stimulating Hormone ◽  
Newborn Screening Program ◽  
Newborn Period ◽  
York State

To the Editor.— We recently have documented a relationship between serum α-fetoprotein (AFP) and congenital hypothyroidism (CH) in the newborn period. Previous studies in our laboratory and others had reported a relationship between elevated serum AFP and elevated thyroid-stimulating hormone (TSH)/low thyroxine T4 in newborns and infants in the first few months of life.1-4 The New York State Newborn Screening Program for CH routinely screens more than 300 000 specimens per year diagnosing 120 to 140 confirmed cases of CH annually.

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