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Updated: Aug 17, 2026
Forskolin-induced Swelling in Intestinal Organoids: An In Vitro Assay for Assessing Drug Response in Cystic Fibrosis Patients
Published on: February 11, 2017
Risk calculations for cystic fibrosis in neonatal screening by immunoreactive trypsinogen and CFTR mutation tests
Shuji Ogino1, Pamela Flodman, Robert B Wilson
1Department of Pathology, Brigham and Womens Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA. shuji_ogino@dfci.harvard.edu
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.
