Cystic fibrosis newborn screening and CFSPID diagnostics

Česká verzia

Authors: J. Bartošová ¹; D. Zemková ¹; A. Holubová ²; R. Gaillyová ³; I. Valášková ³; A. Holčíková ⁴; M. Malá ⁴; V. Skalická ¹
Authors place of work: Pediatrická klinika 2. LF UK a FN Motol, Praha ¹; Oddělení klinické genetiky 2. LF UK a FN Motol, Praha ²; Oddělení lékařské genetiky, FN Brno ³; Klinika dětských infekčních nemocí, FN Brno ⁴
Published in the journal: Čes-slov Pediat 2019; 74 (7): 381-386.
Category:

Summary

Cystic fibrosis (CF) is a serious autosomal recessive disorder. Newborn screening (NBS) for CF allows for early diagnosis of CF before clinical symptoms occur. The patient´s benefits from NSCF are longer life expectancy and better quality of life.

NBS for CF in Czech Republic was introduced in 2009, based on experience from other developed countries. Results from newborn screening can be either negative, in which case the CF diagnosis is unlikely, or positive, which calls for further testing to confirm or exclude CF diagnosis. In some cases of positive NBS for CF, further tests results are inconclusive. Therefore, the term CFSPID (Cystic Fibrosis Screen Positive, Inconclusive Diagnosis) has been established in Europe.

From the Czech Republic 59 children were classified as CFSPID during the period between 2009 and 2018. Seven children from this group were later classified as CF patients.

The aim of this study is to describe the CFSPID group in the Czech Republic. Health status of 38 CFSPID patients could have been obtained. The majority of CFSPID patients are in good health status and do not display clear signs of CF. Even those children who have been reclassified as CF patients (except two patients) are in good health status without classical symptoms of the disease. Therefore, there is no reason to stress the families of CFSPID children, though it is highly recommendable to take care of these children in a specialized CF centre and parents should be informed about possible symptoms of cystic fibrosis.

Keywords:

Cystic fibrosis – newborn screening for cystic fibrosis – CFSPID

Zdroje

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