title: [Genetic counseling in dystrophinopathies].
abstract: Genetic counseling in dystrophinopathies makes it possible to diagnose carriers, assess the risk for descendents, and discuss the different possibilities for having a boy without the disease: prenatal diagnosis, preimplantation diagnosis, ovocyte donation, and adoption. The different stages of each proposal are detailed. Prenatal diagnosis and preimplantation diagnosis can occur only within a highly defined legal framework. Invasive prenatal diagnosis in particular brings up the risk of miscarriage or termination of pregnancy for medical reasons. Preimplantation diagnosis is the study of the genetic characteristics of a 3-day-old embryo. It is proposed to couples who risk transmitting a particularly serious genetic disease to their child as an alternative to prenatal diagnosis. It requires turning to medically assisted reproduction for couples who do not necessarily present sterility problems. Preimplantation diagnosis requires a highly committed clinical and biological multidisciplinary team. It is very stressful for couples, both physically and psychologically. Technological advances (new-generation sequencing) suggests that noninvasive prenatal diagnosis may be possible in the years to come.
authors.affiliation: Centre de Référence « Anomalies du développement et syndromes malformatifs », Département de génétique médicale, CHU Arnaud de Villeneuve, 371, avenue du doyen Gaston-Giraud, 34295 Montpellier cedex 5, France. Electronic address: c-coubes@chu-montpellier.fr.
authors.forename: C
authors.initials: C
authors.lastname: Coubes
mesh_terms: D005260:Female; D005817:Genetic Counseling / Q000379:methods; D006801:Humans; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics; D011247:Pregnancy; D019836:Preimplantation Diagnosis; D011296:Prenatal Diagnosis