Most genetic diseases are detected at birth or during childhood, although in some cases they are only diagnosed in adulthood. Medical support, which cannot be provided on the Internet, is essential when the results are presented. The Agence de la biomédecine aims to harmonise practices and improve the quality of treatment in this area.
Prenatal diagnosis (PND) is used to detect particularly serious diseases, in the embryo or foetus in utero. The most commonly performed form of prenatal diagnosis is ultrasound imaging. Multidisciplinary centres for prenatal diagnosis, authorised by the Agence de la biomédecine, bring together all the healthcare professionals involved in this field. Centres offer parents treatment for the child after birth and help them prepare for his or her birth or, in particularly serious cases, propose termination of pregnancy on medical grounds.
Preimplantation genetic diagnosis (PGD) enables parents who are carriers of a serious, incurable genetic disease to conceive a child who is not affected by the disease. The technique consists of screening embryos conceived in vitro for a disease that could be transmitted by the parents and transferring an unaffected embryo to the mother’s uterus. The Agence de la biomédecine accredits practitioners and authorises centres to perform preimplantation genetic diagnosis.