Format

Send to

Choose Destination
J Cyst Fibros. 2011 Jul;10(4):278-81. doi: 10.1016/j.jcf.2011.02.001. Epub 2011 Mar 8.

Optimal DNA tier for the IRT/DNA algorithm determined by CFTR mutation results over 14 years of newborn screening.

Author information

1
School of Medicine and Public Health, Newborn Screening Laboratory, Wisconsin State Laboratory of Hygiene, University of Wisconsin-Madison, Madison, WI 53706, USA.

Abstract

BACKGROUND:

There has been great variation and uncertainty about how many and what CFTR mutations to include in cystic fibrosis (CF) newborn screening algorithms, and very little research on this topic using large populations of newborns.

METHODS:

We reviewed Wisconsin screening results for 1994-2008 to identify an ideal panel.

RESULTS:

Upon analyzing approximately 1 million screening results, we found it optimal to use a 23 CFTR mutation panel as a second tier when an immunoreactive trypsinogen (IRT)/DNA algorithm was applied for CF screening. This panel in association with a 96th percentile IRT cutoff gave a sensitivity of 97.3%, but restricting the DNA tier to F508del was associated with 90% (P<.0001).

CONCLUSIONS:

Although CFTR panel selection has been challenging, our data show that a 23 mutation method optimizes sensitivity and is advantageous. The IRT cutoff value, however, is actually more critical than DNA in determining CF newborn screening sensitivity.

PMID:
21388895
PMCID:
PMC3650906
DOI:
10.1016/j.jcf.2011.02.001
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Elsevier Science Icon for PubMed Central
Loading ...
Support Center