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Baby's 'life-changing' early diagnosis through national genetic study
Overview
A mother has praised the early diagnosis of her baby boy's rare immune condition, C6 deficiency, through the national Generation Study. Aidan was tested using an umbilical cord blood sample shortly after birth at Royal Derby Hospital. The condition puts him at risk of serious bacterial infections such as meningitis, but the early finding allows him to receive preventative antibiotics and additional vaccinations. The Generation Study, led by Genomics England in partnership with NHS England, is screening 100,000 newborns for over 200 rare, treatable genetic conditions.
Key points
- Aidan Hess was diagnosed with C6 deficiency, a rare immune condition, following a test as part of the national Generation Study.
- The condition puts him at risk of serious bacterial infections like meningitis.
- Early diagnosis enables the family to monitor symptoms and allows Aidan to receive preventative antibiotics and additional vaccinations.
- The Generation Study, led by Genomics England and NHS England, aims to screen 100,000 newborn babies in England for more than 200 rare genetic conditions.
- University Hospitals of Derby and Burton is one of 48 NHS trusts taking part in the research.