International Journal of Clinical Case Reports 2017, Vol.7, No.16, 67-72
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The presence of an excess of amniotic fluid must search for an associated congenital malformation. The isolated
omphalocele is not accompanied by hydramnios (Boog et al., 1993). In our observations, the only patient who had
a hydramnios had an omphalocele associated with a polymalformative syndrome such as cantrell pentalgia.
The omphalocele should be differentiated from a sacrococcygeal teratoma especially in cases of inferior
coelosomia. It should not be confused with an allantoic cyst of the umbilical cord, the latter is purely fluid,
projecting on the umbilical path, against the abdominal wall is intact.
In front of any omphalocele, a fetal karyotype is systematically performed. Chromosomal abnormalities are
consistently found in 20-54% of cases. We did it in the three patients. The chromosomal formulas were constantly
pathological (two cases of trisomy 18 and one trisomy 21). This risk of chromosome aberration is increased by
advanced maternal age and the coexistence of omphalocele with other congenital malformations (Mohsni et al.,
2008). In the literature the chromosomal abnormalities most frequently found are trisomies 13, 18, 21 (Weiner and
Goldostein, 2007; Chen, 2007).
The association of omphaloceles with other malformations has also been reported in many series. The most
commonly found abnormalities are cardiac abnormalities (intervenricular communication, interauricular
communication, and tetralogy of Fallot), abnormalities of the skeleton and limbs (club foot, amelie) and
malformations of the nervous system (anencephaly, hydrocephalus, and spina-bifida), renal malformations.
Three syndromes deserve to be individualized:
(1) Cantrell's pentalogy associates a large epigastric omphalocele containing the abdominal viscera, aplasia of the
lower part of the sternum, anterior defect in the diaphragm, absence of the anterior pericardium and cardiac
malformations.
(2) Lower coelosomia with hypogastric omphalocele with vesico-intestinal fistula and anal imperforation, or
bladder exstrophy;
(3) Beckwith-Wiedemann Syndrome: This is an autosomal-transmitted pathology with a risk of recurrence of 27%
(
Van Hoorn and Moonen, 2007;
Mohsni et al., 2008). It is characterized by the triad: Omphalocele, Macroglossia
and a gigantism, his ultrasound diagnosis is difficul.
Obstetric management of ompaloceles is conditioned by their isolated nature or associated with chromosomal or
malformative abnormalities. Thus in case of polymalformative syndrome or associated chromosomal anomaly, the
therapeutic interruption of pregnancy is the rule (Fratelli and Parageorghiou, 2007; Mohsni et al., 2008).
On the other hand, in isolated omphaloceles, continuation of pregnancy is authorized by means of regular
antenatal surveillance and delivery in a specialized center with immediate surgical management. Under these
conditions, recent studies report a neonatal survival approaching 100% (Fratelli and Parageorghiou, 2007;
Yokoyama and Del Castillo, 2007; Chen, 2007). In our work, the demonstration of chromosomal abnormalities
and / or other associated malformations justified termination of pregnancy in all cases.
3 Conclusions
Omphalocele is a rare embryopathy: 1/5000 births. Thanks to the ultrasound, the prenatal diagnosis is made
possible from 12 weeks of amenorrhea. This diagnosis is usually easy to confirm. Before any omphalocele, a fetal
karyotype is systematically performed. Chromosomal aberration is found in 20-54% of cases. Moreover, the
search for associated malformations is essential, they reach one in two patients.
The prognosis of omphaloceles is due more to the presence of congenital malformations or chromosomal
anomalies associated with its volume. In isolated omphaloceles, neonatal survival is approximately 100% of
cases.
