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.
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Carnitine-acylcarnitine translocase deficiency
Cystic fibrosis transmembrane conductance regulator
Congenital adrenal hyperplasia
Carnitine palmitoyl transferase I deficiency
Carnitine palmitoyl transferase II deficiency
- GA I:
Glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency)
Inherited metabolic disorders
Isovaleryl-CoA dehydrogenase deficiency (isovaleric acidemia)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Medium chain acyl-CoA dehydrogenase deficiency
Tandem mass spectrometry
Maple syrup urine disease
Very long chain acyl-CoA dehydrogenase deficiency
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Institutional support was provided by the project DRO VFN64165 from the Ministry of Health of the Czech Republic and by the projects Progres Q26 and Q36 from Charles University.
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The authors declare that they have no conflict of interest.
For this type of study, formal consent is not required. This article does not contain any studies with human participants or animals performed by any of the authors.
Communicated by Mario Bianchetti
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David, J., Chrastina, P., Vinohradska, H. et al. Neonatal screening in the Czech Republic: increased prevalence of selected diseases in low birthweight neonates. Eur J Pediatr 177, 1697–1704 (2018). https://doi.org/10.1007/s00431-018-3230-y
- Congenital hypothyroidism
- Cystic fibrosis
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Low birthweight
- Neonatal screening