Test de Guthrie

Par Dr. A. Bakzinski , le mardi 27 août 2013. Mise à jour lundi 16 novembre 2015
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Le recueil sur un papier-filtre spécial de quelques gouttes de sang capillaire, prélevé au talon chez un nourrisson à la 72e heure de vie (matin du 4e jour), au 10e jour chez le prématuré, permet de dépister précocement cinq maladies rares mais graves : la phénylcétonurie, l’hypothyroïdie congénitale, l’hyperplasie surrénale congénitale, la drépanocytose, la mucoviscidose.

L’idiotie phénylpyruvique (PCU) est dépistée par le dosage de la phénylalanine, l’hypothyroïdie par celui de la TSH, l’hyperplasie surrénale congénitale par celui de la 17-OH-progestérone, la mucoviscidose par celui de la trypsine immunoréactive.

Le dépistage de la drépanocytose n’est réalisé que si les parents sont originaires d’une zone où la prévalence de la drépanocytose est élevée.

Le test porte le nom de Guthrie en hommage au premier médecin à avoir proposé un dépistage néonatal de la phénylcétonurie.

La méthode permet de dépister 95 % des nouveau-nés atteints.

Pour réaliser un test de Guthrie

  • Utiliser un papier ad hoc pré-imprimé.
  • Recueillir l’accord des parents.
  • Ponctionner au vaccinostyle le bord externe du talon du nouveau-né.
  • Recueillir la goutte de sang ainsi obtenue sur le papier ad hoc en mettant la goutte au contact du papier côté imprimé et en faisant en sorte que le sang imbibe toute la surface d’un cercle pré-imprimé.
  • Recommencer l’opération pour chacun des cercles. Il faut remplir chaque cercle en une seule fois et veiller à ce que le sang imbibe bien le papier filtre (il doit être visible sur les deux faces).
  • Laisser sécher 2 heures loin d’une source de chaleur. Mettre le papier sous enveloppe et l’adresser au laboratoire chargé du dépistage.

Informer les parents qu’ils ne seront prévenus qu’en cas d’anomalie et qu’une absence de réponse signifie que le test est normal.

Sources & bibliographie

  • René Caquet. 2010. 250 examens de labotaroire Prescription et interprétation. Edition Masson, Belgique, 384 p.

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Débats, discussions et commentaires : 2 commentaires.

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