domingo, 6 de enero de 2013

Cascade testing in families of carriers identi... [J Cyst Fibros. 2012] - PubMed - NCBI

J Cyst Fibros. 2012 Dec 27. pii: S1569-1993(12)00226-3. doi: 10.1016/j.jcf.2012.11.009. [Epub ahead of print]

Cascade testing in families of carriers identified through newborn screening in Western Brittany (France).

Duguépéroux I, Audrézet MP, Parent P, Audebert-Bellanger S, Roussey M, Férec C, Scotet V.

Source

Inserm, U1078, Brest, F-29200, France; Univ. Brest, Brest, F-29200, France; Etablissement Français du Sang - Bretagne, Brest, F-29200, France; C.H.R.U. Brest, Hôpital Morvan, Laboratoire de Génétique Moléculaire, Brest, F-29200, France. Electronic address: ingrid.dugueperoux@univ-brest.fr.

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 20years, 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.
Copyright © 2012 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.