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Diagnosis during pregnancy

Question
Hello, mother of a 18 months old girl with cystic fibrosis, I'd like to get more information about the methods of detection of CF during natural pregnancy. At what point of pregnancy are these exams performed? When are the results known? Thank you!
Answer
Hello,
Cystic fibrosis is a genetic autosomal recessive disease.
As parents of a young girl with cystic fibrosis, you are healthy CFTR mutation carriers; this can be confirmed by blood test during genetic counseling.
For you as a couple, the probability of having a CF child is 1 in 4 for every pregnancy.
During pregnancy, it is possible to perform a prenatal diagnosis by chorionic villus sample, fetal part of the placenta, at 12 weeks gestation (from last menstrual period). The presence of two CF mutations means that the fetus is affected, and medical interruption of pregnancy can be proposed.
This prenatal diagnosis should always be carried out within an individual genetic counseling, as well as the reporting of results, usually available in 7-15 days on average.
It is advisable to organize a genetic counseling early, before pregnancy, in order to receive a detailed and appropriate information.
Your CF center can tell you more about the genetic counseling unit connected to the CF center.
Sincerely
Dr. Michèle Gérardin
08.04.2014