Chromosomal Foetal and Placenta Abnormalities Associated with Exomphalos and Umbicinal Hernia

Abstract

Umbicinal Hernia and Chromosomal Abnormalities of Autosomal ChromosomesUmbicinal hernia and exophalos are rare congenital conditions with an incidence of 2-3 cases per 10,000 newborns and are associated with chromosomal abnormalities in foetus and placenta [1,2]. The risk of umbilical hernia and exomphalos varies according to maternal age, gestational age, type of birth and genetic disorders [3,4].Trisomes 13 and 18 are the most common chromosomal abnormalities associated with the occurrence of umbilical hernia. Snijders et al. [3] determined the appearance of omphalocele in 22.5% of foetuses with trisomy 18, 9.1% of foetuses with trisomy 13, 12.5% of foetuses with other triploid chromosomal abnormalities while 0, 45% of embryos had no chromosomal defects. According to literature the risk factors such as Trisomes 18 or 13 in foetuses with omphalocele is 340 times higher comparing with embryos with no exomphalos during 11 th to 14 th weeks of gestational age [5,6].Chen et al. [7] in a study of 89 cases of trisomies 18 revealed 12 cases with omphalocele (13.48%) estimated male to female ratio of 2:1 [7]. Blazer et al studied 18 foetuses with omphalocele and diagnosed 11 cases (61.1%) with chromosomal abnormalities, most cases related to trisomy 18, 21 and one case with fetal karyotype 45 X [6,7]. Calzolari et al. [1,2] analyzed 160 embryos and found 94 cases of umbilical hernia (58.8%) with concomitant chromosomal abnormalities. In 60 cases revealed trisomies 18, 23 or 13, four cases with trisomy 21 and seven with other chromosomal abnormalities [1,2].