Simona Capl
Klinični oddelek za neonatologijo, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

Jasna Rodman Berlot
Služba za pljučne bolezni, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija Katedra za pediatrijo, Medicinska fakulteta, Univerza v Ljubljani, Ljubljana, Slovenija

Uroš Krivec
Služba za pljučne bolezni, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija Katedra za pediatrijo, Medicinska fakulteta, Univerza v Ljubljani, Ljubljana, Slovenija

Marina Praprotnik
Služba za pljučne bolezni, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

Aneta Soltirovska Šalamon
Klinični oddelek za neonatologijo, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija Katedra za pediatrijo, Medicinska fakulteta, Univerza v Ljubljani, Ljubljana, Slovenija

Jernej Brecelj
Klinični oddelek za gastroenterologijo, hepatologijo in nutricionistiko, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija Katedra za pediatrijo, Medicinska fakulteta, Univerza v Ljubljani, Ljubljana, Slovenija

Anja Praprotnik Novak
Klinični oddelek za gastroenterologijo, hepatologijo in nutricionistiko, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

Anija Orel
Služba za dietoterapijo in bolniško prehrano, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija in Biotehniška fakulteta Ljubljana, Univerza v Ljubljani, Ljubljana, Slovenija

Daša Perko
Klinični inštitut za specialno laboratorijsko diagnostiko, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

Majda Oštir
Služba za pljučne bolezni, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

Sandra Cerar
Klinični oddelek za neonatologijo, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija Katedra za pediatrijo, Medicinska fakulteta, Univerza v Ljubljani, Ljubljana, Slovenija

Abstract

Cystic fibrosis (CF) is the most common autosomal recessive genetic disorder, affecting multiple organ systems, primarily the respiratory, digestive, endocrine and reproductive systems. Morphological changes in the fetus can be detected antenatally. After birth, life-threatening complications may occur due to intestinal obstruction caused by meconium ileus. The disease usually presents clinically in early childhood, although pancreatic insufficiency may already be present in newborns. CF is diagnosed in newborns through screening programmes. In addition to respiratory physiotherapy, early detection and treatment of infections, appropriate nutrition, and replacement therapy with enzymes, vitamins and minerals, the introduction of newer medications (CF transmembrane conductance regulator [CFTR] modulators) has significantly altered the course of the disease and improved female reproductive potential. As these medications have not been shown to have significant adverse effects on pregnancy, patients often continue treatment during pregnancy. CFTR modulators cross the placenta and are excreted into breast milk. As treatment is required upon diagnosis in a newborn, we have developed recommendations. This article also provides an overview of the prenatal management of a fetus with CF and the management of a newborn exposed to CFTR mod-ulators in utero as a result of maternal treatment during pregnancy.

Key words: cystic fibrosis, fetus, newborn, pregnancy, CFTR modulators, meconium ileus