Cephalocele detection in utero: sonographic and clinical features.

Abstract

Sonographic and clinical features of 26 fetal cephaloceles were reviewed retrospectively. The most frequent reason for referral was elevated maternal serum alpha-fetoprotein levels. The smallest lesion identified was 0.4 x 0.5 cm (frontal, at 20 weeks); the largest was 9.0 x 10.0 cm (frontal, at 27 weeks). Twenty-four of 26 cephaloceles were detected on prenatal ultrasound examination; in 13 of these, more than 50% of the intracranial contents were exteriorized. Fifteen of 24 cephaloceles detected prenatally had a sulcal pattern (identified between 16 and 36 weeks' gestation); five were solid without a sulcal pattern (identified between 13 and 21 weeks' gestation), three were cystic, and one underwent a change in appearance from solid at 21 weeks to cystic at 26 weeks. Other cranial features were evaluated and included visible skull defect, seen in 23/24 (96%), ventriculomegaly, in 6/26 (23%); microcephaly, in 12/24 (50%); beaked tectal plate, in 6/16 (38%); and flattened basiocciput, in 9/24 (38%). Of the 26 cases, 14 had normal amniotic fluid volume, five had oligohydramnios and seven had polyhydramnios. Fetuses with oligohydramnios had the highest incidence of concurrent fetal abnormalities; four of five fetuses (80%) with oligohydramnios had additional structural abnormalities. In the overall population, a very high incidence of other abnormalities was found; 17/26 (65%) cases showed additional abnormalities, some of which were not detected by ultrasound. Five fetuses had Meckel-Gruber syndrome and three had amniotic band syndrome. Only one of the 18 karyotypes obtained was abnormal (trisomy 18). Survival was very poor; only two of the eight who survived until birth are currently living.

• Authors: N E Budorick, D H Pretorius, J P McGahan, M R Grafe, H E James, J Slivka
• Journal: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology (Ultrasound Obstet Gynecol) Vol. 5 Issue 2 Pg. 77-85 (Feb 1995) ISSN: 0960-7692 [Print] England
• PMID: 7719871 (Publication Type: Journal Article)

Topics

• Abnormalities, Multiple (diagnostic imaging)
• Amniotic Band Syndrome (pathology)
• Amniotic Fluid (diagnostic imaging)
• Brain Diseases (diagnostic imaging)
• Cerebral Ventricles (diagnostic imaging)
• Chromosomes, Human, Pair 18
• Encephalocele (diagnostic imaging, pathology)
• Female
• Fetal Diseases (diagnostic imaging, pathology)
• Humans
• Infant, Newborn
• Microcephaly (diagnostic imaging)
• Occipital Bone (abnormalities, diagnostic imaging)
• Oligohydramnios (diagnostic imaging)
• Polyhydramnios (diagnostic imaging)
• Pregnancy
• Retrospective Studies
• Skull (abnormalities, diagnostic imaging)
• Survival Rate
• Syndrome
• Tectum Mesencephali (abnormalities, diagnostic imaging)
• Trisomy
• Ultrasonography, Prenatal