Neonatal screening in the Czech Republic: increased prevalence of selected diseases in low birthweight neonates

Abstract

Neonates with low birthweight (LBW) represent a vulnerable population. This retrospective study analyzed the birth frequency of diseases detected by neonatal screening (NBS) in normal and LBW neonates in the Czech Republic. Between years 2002 and 2016, the number of screened disorders in the Czech Republic gradually increased from two to 13. Prevalence of screened diseases was calculated for cohorts ranging from 777,100 to 1,277,283 neonates stratified by birthweight. Odds ratio of the association of LBW with each disease was calculated and statistical significance was evaluated using the chi-square test or Fisher's exact test, as appropriate. Three diseases were associated with higher risk of prevalence in LBW neonates, namely congenital hypothyroidism (OR 2.50, CI 1.92; 3.25), cystic fibrosis (OR 2.44, CI 1.51; 3.94), and long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) (OR 7.74, CI 2.18; 27.42).Conclusion: Although the underlying mechanisms are not well understood, results can be hypothesized that LBW (respectively prematurity) may lead to the secondary and often transitory hypothyroidism while cystic fibrosis and LCHADD may manifest already prenatally and result into preterm birth and LBW. What is Known: • The percentage of low birthweight (LBW) neonates in the Czech Republic has been increasing. • Previously published studies reported positive association between LBW and congenital hypothyroidism and cystic fibrosis. What is New: • The association between LCHADD and LBW has not yet been described. • LBW can be the first manifestation of cystic fibrosis and LCHADD.

Impact of newborn screening on the reported incidence and clinical outcomes associated with medium- and long-chain fatty acid oxidation disorders

“…9,10,[12][13][14]22,23 Studies of European, US, and Qatar populations have identified incidences similar to Asia and Australia. 3,10,[15][16][17][18][24][25][26][27][28] However, the Eastern and Jawf provinces of Saudi Arabia reported a much higher incidence (31.1 per 100,000), which is attributed to a high rate of consanguineous marriage and a founder effect. 29 In one study, patients identified by NBS generally had higher levels of enzyme activity and a higher overall long-chain fatty acid oxidation flux in cultured fibroblasts than those reported before NBS implementation.…”

Maternal exposure to O3 and NO2 may increase the risk of newborn congenital hypothyroidism: a national data-based analysis in China

“…PTB also has a significant influence on newborn CH. LBW, PTB, and GDM were confirmed to be associated with maternal exposure to air pollution, which may affect the occurrence of newborn CH indirectly (David et al 2018 ).…”

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

“…Pilot testing for SMA and SCID began in January 2022 in Prague and Moravia [ 735 ]. Recent research has focused on the epidemiology of diseases detected by NBS [ 736 ], with particular emphasis on low birthweight neonates [ 737 ] and the growth patterns associated with NBS-detected CAH [ 738 ]. A study of the way parents are informed about NBS and the variables associated with their awareness has resulted in several new educational measures including seminars for healthcare providers and the development and distribution of new educational materials [ 739 ].…”