Balkan Journal of Medical Genetics

TWO YEARS OF NEWBORN SCREENING FOR CYSTIC FIBROSIS IN NORTH MACEDONIA: FIRST EXPERIENCE
Fustik S1,*, Anastasovska V2, Plaseska-Karanfilska D3, Stamatova A1, Spirevska L1, Pesevska M2, Terzikj M3, Vujovic M3
*Corresponding Author: Professor Stojka Fustik, M.D., Ph.D., Department for Cystic Fibrosis, University Clinic for Pediatrics, Faculty of Medicine, University “Ss. Cyril and Methodius,” Vodnjanska 17, 1000 Skopje, Republic of North Macedonia. Tel.: +389-23-147-716; +389-75-705-369. Fax: +389- 23-129-027. E-mail: stojkaf@yahoo.com
page: 41

INTRODUCTION

Cystic fibrosis (CF) is the most common, potentially fatal, genetic disorder in Caucasians, with autosomal recessive heredity, affecting around 1 in 3000 live births. The incidence varies in different geographical areas and ethnic groups. The CF diagnosis is classically made on the basis of clinical symptoms consistent with a diagnosis of CF: respiratory (chronic cough and sputum production, airway obstruction manifested by wheezing, recurrent pneumonia or obstructive bronchitis, persistent colonization/ infection with typical CF pathogens, nasal polyps); gastrointestinal and nutritional abnormalities (meconium ileus, loose stools, symptoms of malabsorption, failure to thrive, hypo-proteinemia and edema, distal intestinal obstruction syndrome); salt loss syndrome (salt depletion and metabolic alkalosis) coupled with positive sweat test. The diagnosis of CF is also confirmed with genetic analysis and identification of two cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in trans. Due to the very diverse and variable clinical expression of the disease as well as the severity of the symptoms, CF diagnosis can often be delayed, when chronic lung disease and malnutrition are already established. To improve the prognosis and opportunities for a better quality of life for persons with CF, early diagnosis through newborn screening (NBS) and the appropriate preventive and curative care management in specialized CF centers for affected children from the start of life are essential. Today, NBS is considered as important component in the standards of care for CF [1,2]. Newborn screening protocols for CF rely on immunoreactive trypsinogen (IRT) as the primary test and on the sweat test for confirmation or exclusion of the diagnosis of CF [3]. The increase of IRT in the blood of newborns with CF, which can be detected and in a dried drop of blood taken for routine screening, was first described in 1979 [4]. It’s the result of complete or partial obstruction of the pancreatic ducts during intrauterine life and the outflow of acinus products into the vascular system. In order to improve the positive predictive value of the NBS program, a second tier test is mandatory. It can be either a second blood sample taken at 3 to 4 weeks of age for IRT-2, or CFTR gene mutation analysis using the initial blood spot or more recently a biological dosage of pancreatitis-associated protein (PAP) using the initial blood spot [3]. In the last 2-3 decades, a growing number of countries in Europe, North and South America are introducing NBS for CF, therefore, the number of newborns being screened for CF constantly increases [5]. Newborn screening for CF was introduced as a national program on all newborn population in the Republic of North Macedonia (RNM) from April 2019, after a pilot study in 2018.

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