Congenital malformations and chromosomal aberrations.
Among a great number of chromosomal aberrations, the absence of cerebral malformations does not explain the reason for mental retardation and will lead to interpreting as normal the echography of a fetus which, after birth, will be revealed to have a trisomy. Trisomic brain anomalies are not constant or obligatory, but some of them (holoprosencephaly for 61% of trisomy-13 and agenesis of corpus callosum for 8% of trisomy-18) have a degree of specificity. As for cerebral and cerebellar heterotopias, they cannot be considered as real malformations as they are frequently found in premature newborns and disappear with maturation, thus proving that they are a sign of immaturity. There is still a lot of work to be done before we are able to meet the request for fetal integrity formulated by contemporary couples.
Battin
J
J
Clinique de Pédiatrie et Génétique médicale, Hôpital des Enfants, Bordeaux, France.
D001921:Brain / Q000002:abnormalities*; D002869:Chromosome Aberrations; D000013:Congenital Abnormalities / Q000235:genetics*; D004380:Duodenal Obstruction / Q000151:congenital; D006801:Humans; D007409:Intestinal Atresia / Q000235:genetics; D011296:Prenatal Diagnosis; D014314:Trisomy