2018
Neonatal screening in the Czech Republic: increased prevalence of selected diseases in low birthweight neonates
DAVID, Jan, Petr CHRASTINA, Hana VINOHRADSKÁ, Eva AL TAJI, Andrea HOLUBOVA et. al.Základní údaje
Originální název
Neonatal screening in the Czech Republic: increased prevalence of selected diseases in low birthweight neonates
Autoři
DAVID, Jan (203 Česká republika, garant), Petr CHRASTINA (203 Česká republika), Hana VINOHRADSKÁ (203 Česká republika, domácí), Eva AL TAJI (203 Česká republika), Andrea HOLUBOVA (203 Česká republika), Eva HLIDKOVA (203 Česká republika), Viktor KOZICH (203 Česká republika) a Felix VOTAVA (203 Česká republika)
Vydání
European journal of pediatrics, New York, Springer, 2018, 0340-6199
Další údaje
Jazyk
angličtina
Typ výsledku
Článek v odborném periodiku
Obor
30209 Paediatrics
Stát vydavatele
Spojené státy
Utajení
není předmětem státního či obchodního tajemství
Impakt faktor
Impact factor: 2.188
Kód RIV
RIV/00216224:14110/18:00104229
Organizační jednotka
Lékařská fakulta
UT WoS
000447379700015
Klíčová slova anglicky
Congenital hypothyroidism; Cystic fibrosis; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency; Low birthweight; Neonatal screening
Příznaky
Mezinárodní význam, Recenzováno
Změněno: 10. 2. 2019 16:33, Soňa Böhmová
Anotace
V originále
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.