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Newborn Screening for Selected Disorders in Nepal: A Pilot Study.

Arti Sharma Pandey1, Suchita Joshi2, Rateena Rajbhandari2

  • 1Department of Biochemistry, Kathmandu Medical College (Basic Sciences), Duwakot, Bhaktapur 44802, Nepal.

International Journal of Neonatal Screening
|October 19, 2020
PubMed
Summary

Newborn screening in Nepal identified two cases of congenital hypothyroidism and one of cystic fibrosis. Parametric values differed from Swiss newborns, suggesting potential for a national screening program.

Keywords:
Nepalcongenital hypothyroidismcystic fibrosishemoglobinopathiesnewborn screening

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Area of Science:

  • Biochemistry
  • Pediatrics
  • Genetics

Background:

  • Metabolic disorder prevalence in Nepal is largely unknown.
  • Neonatal screening programs are crucial for early detection and intervention.

Purpose of the Study:

  • To assess the feasibility of a neonatal screening program in Nepal.
  • To identify metabolic disorders in Nepalese newborns.
  • To establish reference ranges for screening parameters.

Main Methods:

  • Dried Blood Spot (DBS) samples from newborns were analyzed using Tandem Mass Spectroscopy and fluorescence assays.
  • Tests included markers for disorders common in the Swiss neonatal screening program.
  • Statistical analysis was performed to compare Nepalese and Swiss newborn data.

Main Results:

  • Two cases of congenital hypothyroidism and one case of cystic fibrosis were detected.
  • Significant differences in Thyroid Stimulating Hormone (TSH), immunoreactive trypsinogen (IRT), hydroxyprogesterone (OHP), tyrosine (Tyr), and octanoylcarnitine (C8) were observed with gestation age.
  • Nepalese and Swiss newborns showed distinct first and ninety-ninth percentiles for several parameters.

Conclusions:

  • Congenital hypothyroidism and cystic fibrosis are strong candidates for inclusion in a Nepalese newborn screening program.
  • Observed parametric differences may relate to variations in preterm birth survival rates and breastfeeding practices.
  • Establishing localized reference ranges is essential for effective screening.