24 weeks gestational age on routine
ultrasound scan.
FINDINGS :
Liver is outside the anterior abdominal wall with intact sac surrounding
it & large midline defect at Umbilical region. Umbilical cord is attached to the of sac.
DISCUSSION :
The incidence of Omphalocele is about 1 per 3000 live births. It
may be
associated with chromosomal defects,
X linked Autosomal dominant and Autosomal recessive disorders. The
prevalence of chromosomal defects in live born infants with Omphalocele
is 10% mainly Trisomis 18 and 13. In antenatal series ,the reported
prevalence is about 36%, with Trisomy 18 being the most common
defect. Chromosome abnormalities are more likely when Omphalocele sac
contains only bowel (67%) compared to cases where the liver is
included. In addition , the Karyotype is more likely to be
abnormal when Omphalocele is associated with additional abnormalities (
46% versus 13% for isolated Omphalocele. Other anomalies are
present with Omphalocele about half the time , particularly
cardiac problems.
REFERENCE :
Diagnostic Ultrasound by Coral M. Rumack M.D. , Stephanie R. Wilson
M.D. , J. William Charboneau M.D.
SUBMITTED BY :
Prof. P. Hymavathi., Dr. Suneela .
|