Leeds Fetal Medicine Unit Website

Cystic Fibrosis

Definition	Genetic disorder resulting in thickened secretions and multi-organ dysfunction
Incidence	1:2000
Diagnosis	Routine neonatal screening now carried out on all babies. Some Ultrasound features (Echogenic Bowel, Meconium Pseudocyst) may be suggestive
Gestation at diagnosis	11 weeks onwards following CVS
Known chromosomal or genetic association	Yes, autosomally recessive genetic syndrome with known multiple genetic mutations.
Further investigations	Karyotype to obtain tissue for genetic analysis
Differential Diaganosis
Prognosis	See information leaflet
Recurrance risk	25% of offspring will be affected, 50% will be carriers
Research Studies

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