J 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

Štítky

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.