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Incontinentia Pigmenti France - maladie rare

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Biological diagnosis Print E-mail
lundi, 31 octobre 2005
In 2000 the NEMO gene was identified by a team at Necker Hospital in Paris, which led to significant  advance in the field of sciences.
A prenatal diagnosis test was elaborated in 2004 by the same team.
Prenatal diagnosis are made at Necker Hospital at the laboratory of genetics biochemistry. Some cells are taken by biopsy on the inner (foetal) part of the placenta under scan.
For time being this test is only made when a mother with IP wishes to bear another child.
A number of members of IP France have met the team at Necker Hospital before conceiving a child.
A diagnosis was devised in 2006, making it possible to detect the decease in the embryo, in vitro, before it is implanted in the uterus.
The same laboratory conducts the other diagnosis tests, specially the family genetics tests. However, the diagnosis on young girls under age is only made when there are obvious clinical symptoms of the decease.
 
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  « l’Assemblée Générale Ordinaire de l’association aura lieu le samedi 24 mars de 10h à 16h . Dans les locaux de l’Alliance Maladies Rares, Hôpital Broussais 96, rue Didot – 75014 Paris .Si vous désirez davantage d’informations, vous pouvez contacter Jacques Monnet au 04 78 35 96 32 Ou Véronique Douillet au 01 40 96 97 88 »