ArticleInternational journal of neonatal screening2019
Newborn Screening for Selected Disorders in Nepal: A Pilot Study.
Article in International journal of neonatal screening, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed.
- Beyond the homozygous paradigm: symptomatic partial biotinidase deficiency in a heterozygous child-first case report from Nepal.BMC pediatrics · 2025Article
- Performance of a smartphone-based malaria screener in detecting malaria in people living with Sickle cell disease.PLOS digital health · 2025Article
- Newborn screening for congenital hypothyroidism: worldwide coverage 50 years after its start.European thyroid journal · 2025Review
- Consolidated Newborn Bloodspot Screening Efforts in Developing Countries in the Asia Pacific-2024.International journal of neonatal screening · 2024Article
- Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).International journal of neonatal screening · 2024Review
- Feasibility of clinical newborn metabolic screening in a high-volume maternity center in Nepal.BMC global and public health · 2024Article
- A comprehensive review of cystic fibrosis in Africa and Asia.Saudi journal of biological sciences · 2023Review
- Congenital Hypothyroidism among Infants Undergoing Thyroid Function Test in a Tertiary Care Centre: A Descriptive Cross-sectional Study.JNMA; journal of the Nepal Medical Association · 2022Article
- Case reports of metabolic disorders from Nepal.Molecular genetics and metabolism reports · 2019Article
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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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Registered trials
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