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CHROMOSOMAL DEFECTS
AND OMPHALOCELE |
"Ultrasound studies examining the association between fetal abnormalities and chromosomal defects often fail to take into account the maternal age and gestational age distribution of their population and inevitable report a wide range of results" (1).
- The reported frequency of chromosomal defects in fetuses with exomphalos range from 10 to 66%
- (Table of antenatal studies on the frequency of
chromosomal defects).
- Associated chromosomal defects are much higher at 11-14 weeks gestation than in the second trimester of birth or in live births (1). The estimated frequency of chromosomal defects decreased from 39.4% at 12 weeks gestation to 27.5% at 20 weeks and 14.4% in live births.
- Most common chromosomal abnormalities are trisomy 18 and 13, followed by Trisomy 21, Turners syndrome and triploidy (2).
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REFERENCES |
- Snijders RJM, Sebire NJ, Souka A et.al. Fetal exomphalos and chromosomal defects: relationship to maternal age and gestation. Ultrasound Obstet Gynecol 1995;6:250-255.
- Nyberg DA, Fitzsimmons J, Mack LA et.al. Chromosomal abnormalities in fetuses with omphalocele. Significance of omphalocele contents. J Ultrasound Med 1989;8:299-308.