Ten years of neonatal screening of cystic fibrosis in Slovakia

Česká verzia

Authors: S. Dluholucký ^1,2; M. Knapková ¹; A. Revťáková ¹
Authors place of work: Skríningové centrum novorodencov SR, Detská fakultná nemocnica s poliklinikou, Banská Bystrica, Slovensko ¹; Slovenská zdravotnícka univerzita v Bratislave, Fakulta zdravotnictva SZÚ, Banská Bystrica, Slovensko ²
Published in the journal: Čes-slov Pediat 2019; 74 (7): 387-391.
Category:

Summary

The authors present 10 years of experience with neonatal screening of cystic fibrosis (NSCF) in Slovakia (2009–2018), using the new neo-IRT ILMA kit.

Method: During the kit test (2007), up to 31% of high IRT children were Roma. For the risk of a disproportionately high percentage of false positivity, this required a higher cut-off limit for Roma neonates in the form of a prospective study comparing IRT1 and IRT2 levels in majority (M) and Roma (R) ethnicity. After their introduction into practice, the results of 10 years of NSCF are evaluated.

Results: In a group of 8742 newborn M groups and 1500 newborn infants in the R group, there were highly statistically significant differences in IRT levels (p<0.001) and IRT1 cut-off limits were determined = 72 ng/ml, IRT2 = 60 ng/ml for M group and IRT1 = 84 ng/ml, IRT2 = 72 ng/ml for R group. In 10 years of NSCF, 558938 newborns (85.2% M and 14.8% R groups) were examined, the IRT (recall rate) percentage was higher in the R group despite the higher cut-off limit (0.48% vs. 0.28%). A total of 75 CF cases, all in the M group, were detected and confirmed, and none of the cases were found in the Roma newborn. The overall incidence of CF in the pool was 1:7452, calculated on an M population of 1:5110 live births.

Conclusions: The ethnically performed NSCF confirmed the need for different IRT cut-off limits due to its higher values in the Roma ethnic group, as well as virtually no CF in the 10-year Roma population in Slovakia. This approach may reduce the excessively high recall and thus the stress of the ethnic family with higher IRTs in ethnically mixed populations, and shift the knowledge of the real incidence of CF under given conditions.

Keywords:

Cystic fibrosis – Roma ethnicity – ethnic neonatal screening

Zdroje

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