Can prognostic indicators be identified in a fetus with an encephalocele?

Encephaloceles, like other congenital malformations of the brain diagnosabl e in utero, can be either complicated (there being an associated chromosoma l abnormality, abnormalities in the remainder of the central nervous system (CNS) and/or other organs), or isolated (no abnormalities in the chromosom es, the remainder of the CNS or other organs). Complicated cases invariably have a poor prognosis but amongst those with isolated lesions the outcome is variable with some affected children having poor mental and physical dev elopment but others who are only mildly or moderately disabled, To be able to make an informed decision about how to manage their pregnancy parents ne ed to know what the prognosis is likely to be for their fetus with an encep halocele. To see if the necessary information could be reliably gathered by prenatal assessment of affected fetuses, a review was carried out of the medical rec ords and ultrasound scans of 31 fetuses with encephaloceles referred to the Fetal Management Unit at St. Mary's Hospital in Manchester between January 1991 and December 1997. Eighteen of the cohort were classified as having a complicated encephalocel e. Thirteen of the pregnancies were terminated: there were three intrauteri ne deaths, and one neonatal death. There is only one surviving child who is severely disabled. Thirteen fetuses were classified as having isolated enc ephaloceles, six had a mass of neural tissue in the encephalocele sac and w ere terminated, one died in utero and six had a cystic lesion or only a nub bin and have survived with few or no abnormalities. This study has shown th at it is possible to identify fetuses with an encephalocele with a favourab le outcome.