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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Risk calculations for cystic fibrosis in neonatal screening by immunoreactive trypsinogen and CFTR mutation tests.

PURPOSE: Although neonatal screening (or newborn screening) for cystic fibrosis ( CF) is commonly practiced, systematic methods for accurate risk calculations are currently lacking. METHODS AND RESULTS: We evaluated characteristics of the immunoreactive trypsinogen (IRT) test using the published data. The probability that a neonate has a positive IRT test, if the neonate is affected, a carrier, or a noncarrier, is approximately 1, 0.041, or 0.011, respectively. We provide methods to calculate genetic risks for a variety of commonly encountered scenarios in which neonates are positive by the IRT test. CONCLUSION: Our Bayesian methods permit CF disease probabilities to be calculated accurately, taking into account all relevant information.[1]

References

  1. Risk calculations for cystic fibrosis in neonatal screening by immunoreactive trypsinogen and CFTR mutation tests. Ogino, S., Flodman, P., Wilson, R.B., Gold, B., Grody, W.W. Genet. Med. (2005) [Pubmed]
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