Syndromes identified in fetuses with prenatally diagnosed cephaloceles.
An evaluation of all fetuses from our institution with prenatally diagnosed cephaloceles was conducted to determine the frequency and spectrum of genetic syndromes associated with this abnormality. Review of the sonographic images, postnatal autopsy or pathology reports, delivery room records, paediatric neurosurgical findings, radiographs, and cytogenetic data were collected. Fifteen postnatally confirmed cases of prenatally diagnosed cephaloceles and two misdiagnosed cases were identified. Thirteen were midline occipital lesions, one was frontoparietal, and one was frontoethmoidal. Excluding microcephaly, hydrocephaly, and distortion of intracranial anatomy, 9 of 15 (60 per cent) had other associated anomalies, including two fetuses with aneuploidy. The prenatal 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 identified. An accurate diagnosis is critical in determining the prognosis and providing appropriate genetic counselling.
Department of Obstetrics and Gynecology, Pennsylvania Hospital, Philadelphia 19072.
S J
SJ
Wininger
A E
AE
Donnenfeld
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000196:embryology / Q000235:genetics; D003937:Diagnosis, Differential; D004677:Encephalocele / Q000000981:diagnostic imaging* / Q000196:embryology / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging* / Q000196:embryology / Q000235:genetics; D005817:Genetic Counseling; D006801:Humans; D008588:Meningocele / Q000000981:diagnostic imaging* / Q000196:embryology / Q000235:genetics; D011247:Pregnancy; D011379:Prognosis; D013577:Syndrome; D016216:Ultrasonography, Prenatal