[Abnormalities of the central nervous system. Results of 3 years of genetic counseling at the University Hospital of Rennes: 192 cases].
The authors present their view of screening for central nervous system malformations in Brittany, having studied 192 case histories of subjects seen in the three years of genetic counselling in Rennes. Ultrasound usually manages to demonstrate anencephaly but all too often it fails to demonstrate spina bifida. Furthermore serum or amniotic fluid alphafetoprotein levels are often poorly interpreted. Microcephaly and encephaloceles occur rarely. The ultrasound diagnosis of the latter is easy whereas it is more difficult to diagnose microcephaly. The authors point out that there are familial forms of hydrocephaly and of holoprosencephaly which are not all that rare and fairly easy to diagnose so long as one remembers this very serious abnormality.
D000046:Academic Medical Centers; D000328:Adult; D000649:Amniocentesis; D000757:Anencephaly / Q000175:diagnosis / Q000235:genetics; D002490:Central Nervous System / Q000002:abnormalities*; D005260:Female; D005602:France; D005817:Genetic Counseling; D006801:Humans; D006849:Hydrocephalus / Q000175:diagnosis; D009436:Neural Tube Defects / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis; D016136:Spina Bifida Occulta / Q000175:diagnosis / Q000235:genetics; D014463:Ultrasonography
Les anomalies du système nerveux central. Bilan de trois années de la Consultation de Génétique du C.H.U. de Rennes: 192 dossiers.