Some states offer a newborn test for
cystic fibrosis. The test, called the assay for
immunoreactive trypsinogen (IRT), measures levels of the IRT digestive enzyme.
Abnormally high levels of IRT suggest cystic fibrosis. Some states also test
for common
gene mutations that indicate cystic fibrosis.
Experts continue to debate how helpful newborn screening is for
children who do not have any symptoms of cystic fibrosis. No studies in the
United States show a reduction of lung disease in cystic fibrosis patients
detected by newborn screening.1, 2 But newborn screening for this disease does improve
children's nutrition and growth.2 The Centers for
Disease Control and Prevention (CDC) believes state newborn screening is
worthwhile. The benefits to patients depend on how well the tests are carried
out and followed up.
Citations
Farrell PM, et al. (2003). Bronchopulmonary disease in
children with cystic fibrosis after early or delayed diagnosis. American Journal of Respiratory and Critical Care Medicine,
168(9): 1100-1108.
Grosse SD, et al. (2004). Newborn screening for cystic
fibrosis: Evaluation of benefits and risks and recommendations for state
newborn screening programs. MMWR, 53(RR-13): 1-36.
Farrell PM, et al. (2003). Bronchopulmonary disease in
children with cystic fibrosis after early or delayed diagnosis. American Journal of Respiratory and Critical Care Medicine,
168(9): 1100-1108.
Grosse SD, et al. (2004). Newborn screening for cystic
fibrosis: Evaluation of benefits and risks and recommendations for state
newborn screening programs. MMWR, 53(RR-13): 1-36.