Congenital umbilical cord hernia is often misdiagnosed and easily confused with a small omphalocele. It is different from postnatally diagnosed umbilical hernias and is believed to arise from persistent physiological mid-gut herniation. Its incidence is estimated to be 1 in 5,000, although some articles reported the incidence rate of approximately 0.2%. It is very important to clearly diagnose these cases in the antenatal period so that the patients receive appropriate management postnatally and to decrease the stress in the parents as well. Umbilical cord hernias have not been associated with other chromosomal anomalies. In this article, we describe a case of a patient who was diagnosed with an umbilical cord mass for which the course prenatally and postnatally was uncomplicated. It is very important to avoid misdiagnosing these cases, so that patients are appropriately treated in the postnatal course and to prevent complications such as bowel injury during cord clamping.

A few cases of small omphalocele with umbilical evagination of the bladder have been reported. However, its embryology is yet to be elucidated. Only a few reports have indicated the existence of urachal anomalies and umbilical cysts related to bladder evagination. The incidence of urachal anomalies at birth is reported to be 1 in 5000-8000 live birth, and urachal aplasia is rare. Herein, we report a rare, novel case of urachal aplasia. We encountered a small omphalocele with bladder evagination associated with urachal aplasia for which the neonate underwent surgery one day after birth. The patient was a one-day-old boy with a prenatally diagnosed omphalocele. A fetal magnetic resonance image (MRI) scan (25 weeks of gestation) revealed a 30 × 33 mm (approximately 1.3 in.) cystic lesion which was suspected to be an umbilical cyst. The baby was born vaginally at 38 weeks, weighing 2956 g. An omphalocele (hernial orifice diameter, 4 cm × 3 cm) with bladder prolapse was recognized. After sac excision, the prolapsed bladder was resected and closed with two-layer sutures. In order to secure sufficient bladder capacity, we estimated the minimum residual volume as 21 ml after bladder plasty. The remaining bladder capacity was confirmed to be 30 ml by injecting a contrast dye and saline into the bladder. The neonate had no associated cardiac urogenital or skeletal anomalies. Postoperative course was uneventful. The patient was regularly followed up for two years after surgery and underwent umbilicoplasty. He had no trouble with urinary function. In this case, we experienced extremely rare condition of a small omphalocele with bladder evagination associated with urachal aplasia and reviewed 7 case reports of anomalies similar to those in the present case. Umbilical cord cysts may be an informative indicator of these symptoms in utero. Therefore, ultrasonography scans should be conducted until delivery, despite the spontaneous disappearance of cord cysts.

Omphalocele is known to be associated with genetic anomalies like trisomy 13, 18 and Beckwith-Wiedemann syndrome, but not with Turner syndrome (TS). Our aim was to assess the incidence of omphalocele in fetuses with TS, the phenotype of this association with other anomalies, their karyotype, and the fetal outcomes. Retrospective multicenter study of fetuses with confirmed diagnosis of TS. Data were extracted from a detailed questionnaire sent to specialists in prenatal ultrasound. 680 fetuses with TS were included in this analysis. Incidence of small omphalocele in fetuses diagnosed ≥12 weeks was 3.1%. Including fetuses diagnosed before 12 weeks, it was 5.1%. 97.1% (34/35) of the affected fetuses had one or more associated anomalies including increased nuchal translucency (≥3 mm) and/or cystic hygroma (94.3%), hydrops/skin edema (71.1%), and cardiac anomalies (40%). The karyotype was 45,X in all fetuses. Fetal outcomes were poor with only 1 fetus born alive. TS with 45,X karyotype but not with X chromosome variants is associated with small omphalocele. Most of these fetuses have associated anomalies and a poor prognosis. Our data suggest an association of TS with omphalocele, which is evident from the first trimester.

The exomphalos minor or small omphalocele is a defect of the abdominal wall smaller than 5 cm, located in the umbilical cord. It presents a sac containing intra-abdominal organs, mainly the small intestine. The main surgical objective is to repair the defected wall, preserving the intra-abdominal structures inside the sac. A floating gallbladder is unusual in this pathology; however, it must be removed when that occurs due to the risk of torsion, inflammation, and volvulus. We present the case of a 7-day-old patient who comes to the emergency room with an abdominal mass. The physical examination shows minor exomphalos with local signs of inflammation. Genetic, chromosomal, and imaging studies are solicited. The abdominal ultrasonography report shows the absence of the gallbladder in the liver. The patient requires surgical correction of abdominal wall defect. The gallbladder is found inside the sac of defect that does not have a hepatic fixation; a cholecystectomy is performed. The patient presents a satisfactory postoperative evolution and is discharged. The exomphalos minor is a malformation of the abdominal wall. It needs surgical treatment; this must be done carefully, preserving the intra-abdominal organs inside the sac as much as possible. The gallbladder without hepatic fixation, elongated meso, or suspended by its pedicle is unusual in pediatric age, and they present a higher risk of torsion, inflammation, and necrosis. For this reason, cholecystectomy is indicated. A minor exomphalos has a better prognosis when the defect is small. It is not associated with malformations or associated structural alterations.

The aim of this study is to share our experience in the prenatal diagnosis of omphalocele by karyotyping, chromosomal microarray analysis (CMA) and whole exome sequencing (WES). In this retrospective study, 81 cases of omphalocele were identified from 2015 to 2020. Associated anomalies and prenatal diagnosis based on karyotyping, CMA and WES were analysed. Fifty-eight (71.6%) of the 81 foetuses had other ultrasound anomalies. Giant omphalocele was present in 11 cases (13.6%) and small omphalocele was present in 70 cases (86.4%). Chromosomal abnormalities were found in 24 foetuses (29.6%, 24/81), the most common of which were trisomy 18 (58.8%, 11/24) and trisomy 13 (29.2%, 7/24). Compared to isolated omphalocele, non-isolated omphalocele was accompanied by an increased prevalence of chromosomal abnormalities (4.3% (1/23) vs. 39.7% (23/58), χ2 = 8.226, p = .004). All chromosomal abnormalities were found in small omphalocele. Aside from aneuploidy, CMA showed one pathogenic copy number variants (CNVs) for a detection rate of 1.2%, one variants of unknown significance (VOUS) and one instance of loss of heterozygosity (LOH). WES was performed on 3 non-isolated cases, and one was found to have pathogenic variants. The most common genetic cause of omphalocele is aneuploidy and the prevalence of chromosomal abnormalities is increased with non-isolated and small omphalocele. CMA and WES can be useful for providing further genetic information to assist in prenatal counselling and pregnancy management.