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Dpistage en maternit
A. Munck1,2*, M. Roussey2,3
CRCM Pdiatrique, CHU Robert Debr, AP-HP, 48, boulevard Srurier, 75019 Paris, France
AFDPHE, 38 rue Cauchy, 75015, Paris, France
3 CRCM Pdiatrique, CHU Rennes, Universit Rennes I, Rennes, France
1
www.sciencedirect.com
Summary
In 2002 France implemented a nationwide newborn screening
program for cystic fibrosis (CF). The strategy combined
immunoreactive trypsinogen and, in case of a value over the cut-off
level, DNA analysis in dried blood samples at day 3.
Data were centralized and periodically analyzed thus maintaining
the percentage of samples requiring mutation analysis (0.6%),
limiting the number of false-positive cases (0.1%) without increasing
the number of false-negative cases (3.2%).
3.527.353 infants were screened between 2002 and 2006. The
overall cystic fibrosis incidence was 1/ 4136 with a wide range of
regional variations.
Dilemma case presentation occurred for 14% of the patients; an
European working group is actively working on this topic, attempting
to establish a consensus on the adequate procedures.
Cystic fibrosis newborn screening is feasible all over a nation
but needs a strong organization from maternity wards to CF care
centers.
2008 Elsevier Masson SAS. All rights reserved.
Rsum
Le dpistage nonatal (DNN) de la mucoviscidose est devenu
national en 2002. La stratgie associe au dosage de la trypsine
immunoractive 3 jours de vie, la recherche des mutations les
plus frquentes du gne CFTR pour les spcimens dont la valeur
est au dessus du seuil ds lors que le consentement parental pour
ltude de lADN a t obtenu la maternit.
La centralisation des donnes a permis dadapter lorganigramme
en vue de respecter le nombre de nouveau-ns suspects (0,6%),
limiter le nombre de faux positifs (1) sans majorer le nombre de
faux ngatifs (3,2%).
Entre 2002 et 2006, 3527353 nouveau-ns ont bnfici du
dpistage. Lincidence globale de la maladie est de 1/4136 (IC95%:
1/3840-1/4480) avec dimportantes variations rgionales.
La prsence de formes frontires de mucoviscidose concerne 14%
des dpists, posant des problmes diagnostiques et pronostiques
pour lesquels un groupe de travail europen essaie dharmoniser
les procdures.
Le DNN de la mucoviscidose est possible sur lensemble dun pays
mais ncessite une organisation rigoureuse de tous les intervenants,
des maternits jusquaux Centres de Ressources et de Comptences
de la Mucoviscidose (CRCM).
2008 Elsevier Masson SAS. Tous droits rservs.
Mots cls :Mucoviscidose, Dpistage nonatal,
Centres de ressources et de comptence
* Auteur correspondant.
e-mail : anne.munck@rdb.aphp.fr
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2008 Elsevier Masson SAS. Tous droits rservs.
Archives de Pdiatrie 2008;15:S1-S6
A. Munck et al.
2 mutations
1 mutation
STOP
Absence
consentement
TIR -J21 < seuil
0 mutation *
Contrle TI R -J21
A. Munck et al.
6. Conclusion
Le DNN de la mucoviscidose est possible sur lensemble dun
pays mais ncessite une organisation rigoureuse de tous les
intervenants partir des maternits jusquaux CRCM. Lanalyse centralise des rsultats par lAFDPHE permet dadapter
lorganigramme en vue de respecter le nombre de nouveauns suspects (0,6%), limiter le nombre de faux positifs (1)
sans majorer le nombre de faux ngatifs (3,2%).
Remerciements
Nous remercions les maternits, les laboratoires de biologie, les
associations rgionales, les mdecins des CRCM qui participent
toutes les tapes du dpistage nonatal de la mucoviscidose.
Remerciements Elise Houssin, technicienne dtudes cliniques
lAFDPHE.
Conflits dintrts:aucun.
Rfrences
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