SYNDROMES IDENTIFIED IN FETUSES WITH PRENATALLY DIAGNOSED CEPHALOCELES

An evaluation of all fetuses from our institution with prenatally diag nosed cephaloceles was conducted to determine the frequency and spectr um of genetic syndromes associated with this abnormality. Review of th e sonographic Images, postnatal autopsy or pathology reports, delivery room records, paediatric neurosurgical findings, radiographs, and cyt ogenetic data were collected. Fifteen postnatally confirmed cases of p renatally diagnosed cephaloceles and two misdiagnosed cases were ident ified. Thirteen were midline occipital lesions, one was frontoparietal , and one was frontoethmoidal. Excluding microcephaly, hydrocephaly, a nd distortion of intracranial anatomy, 9 of 15 (60 per cent) had other associated anomalies, including two fetuses with aneuploidy. The pren atal diagnosis of a cephalocele should initiate a thorough search for other abnormalities. In this series, there were three multifactorial, two chromosomal, two sporadic, and two autosomal recessive syndromes i dentified. An accurate diagnosis is critical in determining the progno sis and providing appropriate genetic counselling.