Newborn Screening for Selected Disorders in Nepal: A Pilot Study

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.

Case reports of metabolic disorders from Nepal

“…Similarly, hypothyroidism has been reported in several studies [72] and is acknowledged as a treatable health problem in Nepal. A pilot study on neonatal screening conducted in Nepal found a prevalence of hypothyroidism of 1in 2180 [72].…”

“…Similarly, hypothyroidism has been reported in several studies [72] and is acknowledged as a treatable health problem in Nepal. A pilot study on neonatal screening conducted in Nepal found a prevalence of hypothyroidism of 1in 2180 [72]. Most of the South Asian countries like Bangladesh, India, Sri Lanka and Pakistan have initiated newborn screening for hypothyroidism [79].…”

“…One case of cystic fibrosis in a female newborn homozygous for del. F508 in the CFTR protein has been detected based upon Immuno-reactive Trypsin (IRT) activity in a pilot study [72].…”

“…Most of the South Asian countries like Bangladesh, India, Sri Lanka and Pakistan have initiated newborn screening for hypothyroidism [79]. The pilot study also found a case of cystic fibrosis giving an approximate prevalence of 1:4360 [72]. Cystic fibrosis in a Nepalese has not been reported in literature before and more studies need to be carried out on this disorder in order to find its prevalence in Nepal.…”

Biochemical Anthropogenetic Method as a Basis for Diagnostics and Prevention of Hereditary Pathology

“…Важливе значення мають профілактичні програми, які застосовуються у новонароджених і мають на меті виділення групи ризику для подальшого обстеження і лікування. Це так званий масовий неонатальний скринінг, якому підлягають всі новонароджені [13,36].…”