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@article{1456317,
author = {David, Jan and Chrastina, Petr and Vinohradská, Hana and Al Taji, Eva and Holubova, Andrea and Hlidkova, Eva and Kozich, Viktor and Votava, Felix},
article_location = {New York},
article_number = {11},
doi = {http://dx.doi.org/10.1007/s00431-018-3230-y},
keywords = {Congenital hypothyroidism; Cystic fibrosis; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency; Low birthweight; Neonatal screening},
language = {eng},
issn = {0340-6199},
journal = {European journal of pediatrics},
title = {Neonatal screening in the Czech Republic: increased prevalence of selected diseases in low birthweight neonates},
volume = {177},
year = {2018}
}
TY - JOUR
ID - 1456317
AU - David, Jan - Chrastina, Petr - Vinohradská, Hana - Al Taji, Eva - Holubova, Andrea - Hlidkova, Eva - Kozich, Viktor - Votava, Felix
PY - 2018
TI - Neonatal screening in the Czech Republic: increased prevalence of selected diseases in low birthweight neonates
JF - European journal of pediatrics
VL - 177
IS - 11
SP - 1697-1704
EP - 1697-1704
PB - Springer
SN - 03406199
KW - Congenital hypothyroidism
KW - Cystic fibrosis
KW - Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
KW - Low birthweight
KW - Neonatal screening
N2 - 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.
ER -
DAVID, Jan, Petr CHRASTINA, Hana VINOHRADSKÁ, Eva AL TAJI, Andrea HOLUBOVA, Eva HLIDKOVA, Viktor KOZICH a Felix VOTAVA. Neonatal screening in the Czech Republic: increased prevalence of selected diseases in low birthweight neonates. \textit{European journal of pediatrics}. New York: Springer, 2018, roč.~177, č.~11, s.~1697-1704. ISSN~0340-6199. Dostupné z: https://dx.doi.org/10.1007/s00431-018-3230-y.
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