title: [119 cases of spina bifida treated surgically. Results of genetic investigations and genetic counseling].
abstract: After the surgical treatment of 119 cases of spina bifida, the authors present their experience of the genetic approach of the subject. From 1976 to 1978, a resolution not directing attitude towards the parents of the affected children has resulted in a total failure to recognize the recurrence risk, and in an absence of special care for the next pregnancies. The consequence has been recurrence cases of spina bifida in 4 families. Since 1979, a genetic inquiry has been systematically carried out, and all the parents have had a genetic counselling. This permitted the birth of 25 normal infants. In one case, the prenatal diagnosis revealed a fetal meningomyelocele, and motived a therapeutical abortion. Nowadays the fiability of the prenatal diagnosis and the possibility of a prevention through periconceptional vitamin supplementation are strong arguments to give a genetic counselling to all the parents of children with spina bifida.
mesh_terms: D000110:Acetylcholinesterase / Q000032:analysis; D000653:Amniotic Fluid / Q000032:analysis; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis; D016136:Spina Bifida Occulta / Q000235:genetics / Q000517:prevention & control* / Q000601:surgery; D014815:Vitamins / Q000008:administration & dosage*; D000509:alpha-Fetoproteins / Q000032:analysis
chemical_list: D014815:Vitamins; D000509:alpha-Fetoproteins; D000110:Acetylcholinesterase
vernacular_title: 119 cas de spina bifida traités chirurgicalement. Résultats de l'enquête génétique et conseil génétique.