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

RESULTS

A total of 43,139 newborns have been screened for CF during the study period of 27 months (6 months pilot study period and 21 months national screening period). Recall rate was 0.44% (n = 190). Out of 41 (0.095%) positive screening cases, the diagnosis of CF was confirmed in 17 (0.039%) newborns after the positive sweat test. The average age of diagnosis of infants through NBS was 29 days (range from 23 to 43 days). Fifteen of all diagnosed cases at the end of the first month of life, already had symptoms consistent with the diagnosis of CF: failure to thrive (15), frequent loose stools (15), malnutrition with hypoproteinemia (5), cough, colonization/infection with Staphylococcus aureus (9), pneumonia (2) and salt depletion with metabolic alkalosis (1). Two babies, who were pancreatic sufficient, had no symptoms of the disease. During the period of NBS, only one CF case with meconium ileus (genotype F508del/457TAT>G) was missed on screening. Our first NBS results for CF showed a high incidence of the disease in our geographic region of 1:2538 live newborns. We found a very large difference in the incidence of the disease between the Macedonian and Albanian neonatal population. Twelve of the detected CF cases were ethnic Albanians (70.6%) and five were ethnic Macedonians (29.4%). Moreover, the CF incidence observed among the Albanian neonatal population (1:1284) was almost 4-fold higher than the incidence detected in the Macedonian newborns (1:4530). The genotype of detected CF patients by NBS is shown in Table 1. The most common CFTR disease causing mutation F508del was found with an overall incidence of 70.6%. Other more frequent mutations were G542X (11.8%) and N1303K (5.9%). Four mutations were found in one CFTR allele each: G1349D, G126D, 457TAT>G and CFTRdupexon22. The latter is a newly discovered mutation with unknown consequences, found in a pancreatic sufficient case in which CF diagnosis was confirmed by two positive sweat tests.

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