Risk calculations for cystic fibrosis in neonatal screening by immunoreactive trypsinogen and CFTR mutation tests.
OBJECTIVE
Although neonatal screening (or newborn screening) for cystic fibrosis (CF) is commonly practiced, systematic methods for accurate risk calculations are currently lacking.


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.


CONCLUSIONS
Our Bayesian methods permit CF disease probabilities to be calculated accurately, taking into account all relevant information.
Ogino
Shuji
S
Department of Pathology, Brigham and Womens Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA. shuji_ogino@dfci.harvard.edu
Flodman
Pamela
P
Wilson
Robert B
RB
Gold
Bert
B
Grody
Wayne W
WW
D001499:Bayes Theorem; D003550:Cystic Fibrosis / Q000097:blood / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening / Q000379:methods*; D010375:Pedigree; D018570:Risk Assessment / Q000379:methods; D014362:Trypsinogen / Q000097:blood*
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D014362:Trypsinogen