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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 |
Further information for clinicians please click here
Patient information leaflet please click here
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