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Newborn Screening for Selected Disorders in Nepal: A Pilot Study

Department of Biochemistry, Kathmandu Medical College (Basic Sciences), Duwakot, Bhaktapur 44802, Nepal
Department of Pediatrics, Patan Academy of Health Sciences, Patan, Lalitpur 44700, Nepal
Intern, Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu 44600, Nepal
Newborn Screening Laboratory, 8032 Zurich, Switzerland
Authors to whom correspondence should be addressed.
Int. J. Neonatal Screen. 2019, 5(2), 18;
Received: 27 March 2019 / Revised: 7 April 2019 / Accepted: 8 April 2019 / Published: 10 April 2019
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. View Full-Text
Keywords: newborn screening; Nepal; congenital hypothyroidism; cystic fibrosis; hemoglobinopathies newborn screening; Nepal; congenital hypothyroidism; cystic fibrosis; hemoglobinopathies
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Sharma Pandey, A.; Joshi, S.; Rajbhandari, R.; Kansakar, P.; Dhakal, S.; Fingerhut, R. Newborn Screening for Selected Disorders in Nepal: A Pilot Study. Int. J. Neonatal Screen. 2019, 5, 18.

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