title: Outcome in prenatally diagnosed fetal agenesis of the corpus callosum.
abstract: This study of the outcome and prognostic factors in prenatally diagnosed agenesis of the corpus callosum (ACC) was undertaken to see if there are any differences between subgroups, what relationship they have to neurodevelopmental outcome and whether this information aids the counselling of parents of fetuses with the condition. The outcome of 14 prenatally diagnosed fetuses with ACC and 61 postnatally diagnosed patients was assessed in terms of clinical problems, developmental milestones and neurological signs; each patient was then given a score out of 10, 0 being a normal outcome and 10 being the worst outcome, i.e. death or termination of pregnancy. Comparing patients diagnosed pre- and postnatally, several similarities were found indicating that the postnatal group can provide useful information about the prenatal group. There was a higher incidence of ACC in males than females. In the prenatally diagnosed patients complete ACC was more common than partial ACC, although this might be because partial ACC was easily missed. Complete ACC has a worse prognosis than partial ACC (p = 0.001), and when associated with other anomalies, especially of the central nervous system, the outcome is very bad (p < 0.01). The only neurodevelopmentally normal patients were in the isolated partial ACC group. This study highlights the need to perform a detailed review of fetal anatomy and the desirability of determining the karyotype of the fetus in all newly diagnosed cases of ACC so that as much information as possible is available before parents are counselled about the likely outcome.
authors.affiliation: Fetal Management Unit, St. Mary's Hospital, University of Manchester, UK. pwagoodyear@doctorsorg.co.uk
authors.forename: P W
authors.initials: PW
authors.lastname: Goodyear
authors.forename: C M
authors.initials: CM
authors.lastname: Bannister
authors.forename: S
authors.initials: S
authors.lastname: Russell
authors.forename: S
authors.initials: S
authors.lastname: Rimmer
mesh_terms: D061085:Agenesis of Corpus Callosum; D002648:Child; D002869:Chromosome Aberrations / Q000000981:diagnostic imaging / Q000401:mortality; D025063:Chromosome Disorders; D002658:Developmental Disabilities / Q000000981:diagnostic imaging / Q000401:mortality; D005260:Female; D005500:Follow-Up Studies; D005817:Genetic Counseling; D006801:Humans; D015994:Incidence; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009421:Nervous System Malformations / Q000000981:diagnostic imaging* / Q000401:mortality*; D011237:Predictive Value of Tests; D011296:Prenatal Diagnosis / Q000401:mortality*; D011379:Prognosis; D017678:Sex Distribution; D014057:Tomography, X-Ray Computed; D014463:Ultrasonography