Prenatal diagnosis of fetal omphalocele by ultrasound: A comparison of two centuries

Abstract

With the advancement and improvement in US equipment, the early detection of fetal omphalocele is feasible, which will substantially contribute to fetal wellbeing.

Antenatal diagnosis of isolated omphalocele

“…Omphalocele, a congenital defect of the abdominal wall resulting from failure of infolding of the body wall, affects 1 in 4,000 to 10,000 live births and has a higher incidence of 1 in 3000 to 4000 if abortions and stillbirths are considered [ 1 – 3 ]. A other study show that the incidence of fetal omphalocele is estimated as 1:1249 (0.08%) [ 4 ]. Abdominal muscles, fascia, and skin are absent; herniated viscera, which can be hollow or solid, are contained in a sac consisting of amnion and peritoneum.…”

“…Associated anomalies occur in 30% to 70% of cases and chromosomal abnormalities occur in 10% to 30% [ 2 ]. It is characterized by the herniation of the abdominal viscera into the base of the umbilical cord, secondary to the failed fusion of the lateral folds during early embryonic development [ 4 ]. The incidence of associated anomalies with omphalocele ranged 50-70%, but has been reportedly as high as 80-90% in some studies.…”

“…They also involved the heart (up to 40%), neural tube, lip and palate, or cloaca. Some studies suggest that smaller defects (less than 4 cm) are correlated with gastrointestinal defects, whereas larger defects are more likely to be associated with cardiac defects [ 4 ]. Although these comorbidities have been well documented, minimal data exist evaluating the presence of systemic hypertension and renal dysfunction in infants with giant omphalocele [ 1 ].…”

“…As stated in a previous review, chromosomal abnormalities are common. Chromosomal abnormalities particularly aneuploidy such as trisomy 18, 21, or 13 is present in 40-60% of fetuses with omphaloceles not containing liver in 50- 70% of omphalocele cases [ 4 ].…”

“…prior to 24 weeks of gestation [ 5 ]. To make a definite diagnosis of omphalocele before 12 weeks of gestation, differential diagnosis with physiologic midgut herniation must be made cautiously [ 4 ]. Prenatal diagnosis of fetal structural anomalies and growth abnormalities is very important in modern obstetrics.…”