ASSOCIATION FOR CARRIERS
OF CHROMOSOMAL ABNORMALITIES

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Our first child is called Amandine,
What a lovely nursery rhyme.
Our second was Valentin,
Our greatest sorrow,
And from the discovery of genetic risks.
From problems to tragic consequences,
Was born an association.
Which henceforth bears his name.
Now Jean-Baptiste Gwenaël, Anaëlle are everything to us,
Our most beautiful victory over life.


Frequency of the Problem

One person in 150 carries an abnormality in the structure or number of chromosomes. These abnormalities can be accidental or hereditary. In the latter case, the symptoms and their consequences can reoccur at each pregnancy.

This genetic problem affects many people, some without their knowledge. The "healthy carrier" is perfectly normal, without any specific pathology. The problem might only be apparent at the conception of children.

Testing a family is done with a simple blood test, which establishes a karyotype. Prenatal diagnosis is undertaken by amniocentesis or chorioncentesis (CVS).

For hereditary abnormalities, the risk of encountering the following problems is 50%.

Symptoms and Consequences

  • Children with a more or less serious psychomotor disability
  • Death in utero or at birth
  • Termination following the results of a prenatal test
  • Spontaneous miscarriage, repetitive and often at an early stage
  • Infertility, sometimes apparent

For the Parents

A battle that sometimes lasts many years to have a child

Psychological distress due to the symptoms mentioned above but also due to the learning and acceptance of the problem and living with its consequences

Incomprehension from the general public

Difficulty in obtaining access to family blood tests the only means today to forewarn and reduce the problem, in the absence of any treatment.

A lack of public information.

A lack of training within the medical profession to aid better understanding of the problems, to provide better guidance and explanations to families.

A lack of multi-disciplinary centres to welcome and help families in all aspects, and a lack of centres for disabled children and disabled adults.

Objectives of the association

  • To help, support, meet and facilitate contact between all families confronted by these problems
  • To support parents in all situations whether it is miscarriage, termination, death of a child, or by companionship during a pregnancy at risk and to help them cope with a disabled child
  • To create regional contacts to have local meeting points and communication
  • To inform the public and medical profession about these frequent anomalies. To insist on the importance of screening for families and prenatal diagnosis to be better informed.
  • To know and recognise the anomalies and their consequences, to improve daily life, to have better treatment, to encourage research and satisfy all the demands highlighted by families.


  • You, or your child, are the carrier of a Chromosomal abnormality such as a translocation, inversion, absence, insertion, deletion, duplication or even monosomy, trisomy, tetrasomy or pentasomy.
  • You are surprised, discouraged, helpless in the face of this problem, which makes having healthy children a challenge.
  • You have many questions but daren't ask your doctor
  • You'd like to speak to people with similar experiences and hear of their problems and solutions
  • You want the situation concerning this subject, so poorly understood, to change
  • The Valentin Association is here to listen to you, to answer your questions and meet your expectations
Join us !

Write or call

Valentin
Association for carriers of chromosomal abnormalities

member of the European Organization for Rare Disorders EURORDIS
and the European Support Group EUROCHROMNET


Register office - President
Mrs MARCHETTI-WATERNAUX
52, la Butte Eglantine
F95610 ERAGNY SUR OISE
France

Phone : +33 1 30 37 90 97
Fax : +33 9 70 32 87 02
www.valentin-apac.org