Cascade testing in families of carriers identified through newborn screening in Western Brittany (France).
J Cyst Fibros
; 12(4): 338-44, 2013 Jul.
Article
in En
| MEDLINE
| ID: mdl-23273514
ABSTRACT
BACKGROUND:
Newborn screening (NBS) for cystic fibrosis (CF) can lead to the detection of healthy carriers. We report a unique assessment of family testing following the identification of carriers by NBS for over 20 years, in an area where CF is frequent.METHODS:
We reviewed all of the carriers identified by NBS between 1991 and 2010 and registered the tests done in those families.RESULTS:
NBS identified 0.1% of the newborns as carriers, which correspond only to 2.6% of the expected carriers born within the period, and 1/3 of those with an increased IRT level. Of the 195 families, 75.9% requested testing (2.5 tests per family). We identified 183 carriers and five 1-in-4 risk couples. Reassurance about genetic status was provided to 96% of the couples.CONCLUSIONS:
Carriers detected by NBS appeared to be well managed in our area, and cascade testing that informs on genetic status seems relatively active.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Cystic Fibrosis
Type of study:
Diagnostic_studies
/
Prognostic_studies
/
Screening_studies
Limits:
Female
/
Humans
/
Male
/
Newborn
Country/Region as subject:
Europa
Language:
En
Journal:
J Cyst Fibros
Year:
2013
Document type:
Article
Affiliation country: