Flood Syndrome: Endovascular management of spontaneous rupture of an umbilical hernia due to long-standing ascites - A case report.

Umbilical hernias are common in patients with cirrhosis of the liver and ascites; however, spontaneous rupture of the hernia is a rare complication. Flood Syndrome occurs very rarely in cirrhotic patients with massive ascites and refers to the spontaneous rupture of an umbilical hernia followed by leakage of ascites fluid. A literature search shows that patients have been managed both operatively and nonoperatively for this condition. We report a case of a 56-year-old man with a history of alcohol-related liver cirrhosis and massive ascites refractory to medical therapy with sudden and spontaneous perforation of his hernia leading to drainage of ascitic fluid from the abdomen. We performed a transjugular intrahepatic portosystematic shunt to relieve portal pressure and subsequent intraabdominal pressure. The patient had resolution of symptoms and the ascitic fluid outflow was resolved.

Echocardiographic measurements of left ventricular dimensions and function in newborns with omphalocele and pulmonary.

PURPOSE: The purpose of this study was to explore echocardiographic parameters of the left ventricle (LV) in relation to the outcomes of omphalocele neonates with pulmonary hypertension (PH). METHODS: This retrospective study was conducted among omphalocele patients with PH born from 2019 to 2020. Patients in this study did not have additional severe malformations or chromosomal aberrations. Patients who died under palliative care were excluded. The echocardiographic parameters of LV were obtained within 24 h after birth. Clinical and outcomes data were recorded, echocardiograms evaluated for left ventricular internal dimension in end-diastole (LVIDd), end-diastolic volume (EDV), stroke volume (SV) and cardiac output index (CI), among others. RESULTS: There were 18 omphalocele newborns with PH, of whom 14 survived and 4 died. Both groups were comparable in the baseline characteristics. Non-survival was associated with a smaller LV [LVIDd (12.2 mm versus15.7 mm, p < 0.05), EDV (3.5 ml versus 6.8 ml, p < 0.05)] and with worse systolic function [SV (2.3 ml versus 4.2 ml, p < 0.05), and CI (1.7 L/min/m2 versus 2.9 L/min/m2, p < 0.01)]. CONCLUSION: In the cohort of omphalocele patients with PH, lower LVIDd, EDV, SV and CI were associated with mortality. LEVEL OF EVIDENCE: Level III.

Ultrasonographic characteristics, genetic features, and maternal and fetal outcomes in fetuses with omphalocele in China: a single tertiary center study.

BACKGROUND: Patients with omphalocele, a midline abdominal wall defect at the umbilical cord base, have a low survival rate. However, the long-term outcomes of fetuses with prenatally diagnosed omphalocele have scarcely been studied. Therefore, we investigated the ultrasonographic features, genetic characteristics, and maternal and fetal outcomes of fetuses with omphalocele and provided a reference for the perinatal management of such cases. METHODS: A total of 120 pregnant females with fetal omphalocele were diagnosed using prenatal ultrasonography at the Fujian Provincial Maternity and Child Health Hospital from January 2015 to March 2022. Amniotic fluid or cord blood samples were drawn at different gestational weeks for routine karyotype analysis, chromosomal microarray analysis (CMA) detection, and whole exome sequencing (WES). The maternal and fetal outcomes were followed up. RESULTS: Among the 120 fetuses, 27 were diagnosed with isolated omphalocele and 93 with nonisolated omphalocele using prenatal ultrasonography. Cardiac anomalies were the most observed cause in 17 fetuses. Routine karyotyping and CMA were performed on 35 patients, and chromosomal abnormalities were observed in five patients, trisomy 18 in three, trisomy 13 in one, and chromosome 8-11 translocation in one patient; all were non-isolated omphalocele cases. Six nonisolated cases had normal CMA results and conventional karyotype tests, and further WES examination revealed one pathogenic variant and two suspected pathogenic variants. Of the 120 fetuses, 112 were successfully followed up. Eighty of the 112 patients requested pregnancy termination. Seven of the cases died in utero. A 72% 1-year survival rate was observed from the successful 25 live births. CONCLUSION: The prognosis of fetuses with nonisolated omphalocele varies greatly, and individualized analysis should be performed to determine fetal retention carefully. Routine karyotyping with CMA testing should be provided for fetuses with omphalocele. WES is an option if karyotype and CMA tests are normal. If the fetal karyotype is normal and no associated abnormalities are observed, fetuses with omphalocele could have a high survival rate, and most will have a good prognosis.

An analysis of factors affecting survival in prenatally diagnosed omphalocele.

OBJECTIVES: To estimate factors affecting survival in prenatally diagnosed omphalocele, factors predicting genetic abnormalities, and association of omphalocele and specific groups of anomalies. METHODS: A retrospective observational study was performed, analyzing data of all omphalocele cases diagnosed prenatally in the perinatology clinic of a referral center. Demographic data, characteristics of the omphalocele (size, content, associated anomalies), results of genetic testing, pregnancy outcomes and postnatal outcomes were analyzed. RESULTS: Sixty-nine fetuses with omphalocele were included. The prevalence of omphalocele in livebirth was 0.007 %. Overall survival during the study period was 73.9 %. Twenty-eight (71.7 %) out of 39 cases with associated anomalies who were born live, survived, whereas survival was 85.7 % in the isolated cases. The most common anomaly associated with omphalocele were cardiac defects with 42 %; followed by placental or umbilical cord anomalies (28.9 %), skeletal defects (27.5), genitourinary anomalies (20.2 %), central nervous system (18.8 %) and facial anomalies (7.2 %), respectively. Eighty-five percent of the fetuses had at least one additional anomaly or ultrasound finding. Skeletal abnormalities and staged surgical repair of omphalocele were associated with survival. Associated skeletal anomalies and staged repair significantly increase the risk of postnatal death (OR: 4.6 95 % CI (1.1-19.5) and (OR: 10.3 95 % CI (1.6-63.9), respectively). CONCLUSIONS: Associated skeletal abnormalities and staged surgical repair are negatively associated with postnatal survival.

Pregnancy outcomes and prenatal traditional karyotype analysis with fetal omphalocele.

BACKGROUND: Omphalocele is associated with many aneuploidies, deletions and congenital anomalies. This study evaluates pregnancies diagnosed with omphalocele and its relevance to concomitant genetic disorders. METHODS: The data of patients with the intrauterine diagnosis of omphalocele who had invasive diagnostic testing performed between January 2017 and January 2020 were evaluated retrospectively. The traditional karyotype analysis was performed to prenatal diagnosis for all fetuses. During the study period, all patients were scanned via ultrasonography by an experienced perinatologist, prenatally. RESULTS: We evaluated 22 cases of omphalocele whose genetic testing results were available. The mean maternal age was 25 (18-41) years. The median gestational week at diagnosis was 13 (11-22). Invasive genetic testing revealed aneuploidy in 7 patients (31.8%), 2 with trisomy 13 (9.1%), and 5 with trisomy 18 (22.8%). There were 5 fetuses (22.7%) that had extracorporeal liver: 1 had trisomy 18 (20%), 1 had trisomy 13 (20%), and the other 3 fetuses had a normal karyotype (60%). Further, 14 (63.6%) pregnancies were terminated: 4 had trisomy 18 (28.6%), 1 had trisomy 13 (7.1%), and 9 of the terminated pregnancies (64.3%) had additional congenital anomalies. There were 4 infants who died (50%) born from 8 patients who decided to continue with their pregnancy. The omphalocele sac of 1 infant spontaneously regressed in the ensuing weeks of pregnancy who is now 1 year old. CONCLUSIONS: The chromosomal abnormalities presented in up to 31.8% of cases diagnosed with omphalocele. Moreover, for cases with normal genetic testing results, the propensity for additional structural defects was high and the prognosis remains poor. Counseling parents to consider their option of terminating the pregnancy is appropriate.

Turner syndrome-omphalocele association: Incidence, karyotype, phenotype and fetal outcome.

OBJECTIVE: 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. METHOD: Retrospective multicenter study of fetuses with confirmed diagnosis of TS. Data were extracted from a detailed questionnaire sent to specialists in prenatal ultrasound. RESULTS: 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. CONCLUSION: 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.

Prenatal Diagnosis of Bladder Exstrophy and OEIS over 20 Years.

OBJECTIVE: To examine the prenatal diagnosis rates of bladder exstrophy (BE) and Omphalocele-Exstrophy-Imperforate anus-Spinal Defect Syndrome (OEIS) in a large cohort of patients over a 20-year period. We hypothesized that prenatal diagnosis rates improved over time due to evolving techniques in fetal imaging. METHODS: A multi-institutional database was queried to identify BE or OEIS patients who underwent primary closure between 2000 and 2020. We retrospectively determined prenatal or postnatal diagnosis. Those with unknown prenatal history were excluded. Multivariable logistic regression was used to investigate temporal pattern in rate of prenatal diagnosis while adjusting for sex and treating institution. RESULTS: Among 197 BE and 52 OEIS patients, 155 BE and 45 OEIS patients had known prenatal history. Overall prenatal diagnosis rates of BE and OEIS were 47.1% (73/155) and 82.2% (37/45), respectively. Prenatal diagnosis rate was significantly lower in BE compared to OEIS (P <.0001). The prenatal diagnosis rate for BE significantly increased over time (OR 1.10; [95%CI: 1.03-1.17]; P = .003). Between 2000 and 2005, the prenatal diagnosis rate of BE was 30.3% (10/33). Between 2015 and 2020, prenatal diagnosis rate of BE was 61.1% (33/54). Prenatal diagnosis rate for OEIS did not change over time. Rates of prenatal diagnosis did not differ by sex or treating institution. CONCLUSION: Rates of prenatal diagnosis of BE and OEIS are higher than previously reported. Prenatal diagnosis rate of BE doubled in the last 5 years compared to the first 5 years of the study period. Nonetheless, a significant proportion of both BE and OEIS patients remain undiagnosed prior to delivery.

A woman with recurrent umbilical bleeding: a case report.

BACKGROUND: Umbilical discharge in an adult is rare and generates broad diagnostic considerations. Umbilical anatomy is variable owing to congenital abnormalities and acquired pathology such as umbilical hernias. The umbilicus can be a site of primary or metastatic malignancy or endometriosis. CASE PRESENTATION: A 40-year-old white American woman came to the clinic with a 2-day history of spontaneous umbilical bleeding. She reported periumbilical pain associated with nausea and emesis. There were no visible skin abnormalities, but deep palpation of the abdomen produced a thin, watery, serosanguineous fluid from the umbilicus. She experienced a similar episode of umbilical bleeding 5 years prior without clear cause. Laboratory workup was notable for mildly elevated C-reactive protein . Computed tomography imaging revealed a fat-containing umbilical hernia with fat necrosis, necessitating complete surgical resection of the umbilicus. CONCLUSIONS: Umbilical hernia with fat necrosis is a rare condition that should be considered in adults with umbilical discharge. Additional diagnostic considerations in adults with spontaneous umbilical bleeding/discharge include embryonal remnants, omphalitis, and metastasis. If the cause is not readily apparent on physical exam, imaging with computed tomography should be considered to assess for hernia and embryonal anomalies.

Omphalocele and biliary atresia: chance or causality. A case report.

To relate omphalocele and biliary atresia and investigate possible embryological correlations that justify the simultaneous occurrence. A female preterm newborn diagnosed as omphalocele; cesarean delivery, weight 2,500g, 46 XX karyotype. Initially, the newborn remained fasting and on parenteral nutrition, and enteral diet was introduced later, with good acceptance. On the 12th day of life, the newborn presented direct hyperbilirubinemia, increased levels of liver enzymes and fecal acholia, with a presumptive diagnosis of biliary atresia. However, the ultrasound was inconclusive, due to anatomical changes resulting from omphalocele. A surgical approach was chosen on the 37th day of life aiming to confirm diagnosis of biliary atresia and to repair omphalocele. During the surgical procedure, structural alterations compatible with biliary atresia were observed, later confirmed by pathological examination; a hepatoportoenterostomy was performed and the omphalocele was corrected. She evolved well in the postoperative period, with a decrease in direct bilirubin and liver enzymes, as well as resolution of fecal acholia, and was discharged in good clinical condition. This is a bizarre and extremely rare association, but the prognosis may be good when an early diagnosis is made and surgery performed, besides support and clinical management to prevent complications in the perioperative period. Although the pathogenesis of the diseases has not been fully defined yet, there is, to date, no direct relation between them. The association between omphalocele and biliary atresia is extremely uncommon, with only two published cases.

Application of quantitative fluorescent polymerase chain reaction analysis for the rapid confirmation of trisomy 13 of maternal origin in a pregnancy with fetal holoprosencephaly, cyclopia, polydactyly, omphalocele and cell culture failure.

OBJECTIVE: We present the application of quantitative fluorescent polymerase chain reaction (QF-PCR) for the rapid confirmation of trisomy 13 of maternal origin in a pregnancy with fetal holoprosencephaly (HPE), cyclopia, polydactyly, omphalocele and cell culture failure. CASE REPORT: A 21-year-old, gravida 2, para 0, woman was referred for termination of the pregnancy at 17 weeks of gestation because of the abnormal ultrasound finding of alobar HPE. The pregnancy was subsequently terminated, and a 118-g malformed male fetus was delivered with cyclopia, bilateral postaxial polydactyly of the hands and ruptured omphalocele. Postmortem cell culture of the placental tissue and umbilical cord was not successful. The parental karyotypes were normal. QF-PCR analysis using the polymorphic DNA markers of D13S1810, D13S790 and D13S251 on the DNA extracted from placenta, umbilical cord and parental bloods showed trisomy 13 of maternal origin. CONCLUSION: Perinatal diagnosis of concomitant HPE, polydactyly and omphalocele should raise a suspicion of fetal trisomy 13. QF-PCR analysis is useful for rapid confirmation of trisomy 13 and the parental origin especially under the circumstance of cell culture failure, and the information acquired is very useful for genetic counseling of the parents.

A Baby Born with Ectopia Cordis, Omphalocele, Cleft Lips and Palate: A Case Report.

Ectopia cordis is a rare congenital defect with the prevalence of 5 to 8 per million live births. Here we report a rare case of preterm female live birth with ectopia cordis associated with omphalocele, cleft lip, and palate. In this case, 14+ weeks ultrasound did not show any fetal abnormalities and parents were unaware of the condition until 35+ weeks when ultrasound detected the anomaly a few days before delivery. After delivery, they didn't give consent for further intervention which led to neonatal mortality 3 hours after birth. If the condition was diagnosed in time, an earlier intervention could have been done.

Can perinatal outcomes of fetal omphalocele be improved at a tertiary center in South China?

OBJECTIVE: To assess the efficacy of positive feedback closed-loop management system (PFCMS) protocol in influencing parents' decision about pregnancy continuation in pregnancies diagnosed with omphalocele. METHODS: This was a retrospective cohort study of patients who were diagnosed with fetal omphalocele prior to 20 weeks' gestation by ultrasound and were referred to Fetal Care Center at a mainland Chinese medical center during an 11-year period. Two management strategies were offered during the two stages of the study period: a single consultant with a routine protocol and a multidisciplinary support team with PFCMS, respectively. We analyzed the two protocols influencing parents' decision about pregnancy continuation. RESULTS: Forty-nine patients diagnosed with fetal omphalocele were included in this study. In Group A including 16 patients with routine protocol during the first stage of the study period, the majority opted for termination, and only five continued the pregnancy. In Group B including 33 patients with PFCMS during the second stage of the study period, less than one third chose TOP, and 23 ended in live births. There was a significantly lower TOP rate in patients treated with the PFCMS protocol. CONCLUSION: The PFCMS protocol may be an efficient approach in managing pregnancies complicated by omphalocele, which may help in preventing unnecessary pregnancy terminations.

Gastroschisis or exomphalos? An unusual abdominal defect.

A baby with an antenatal diagnosis of exomphalos was born at term. The abnormality had a highly unusual appearance, a right-sided paraumbilical defect, similar to gastroschisis, but with a sac typical of exomphalos containing both abdominal contents and over 1 L of serosanguinous fluid. The sac was drained and suspended from the top of the incubator in silo fashion. Definitive closure was achieved at day 3 of life, and the patient had a non-eventful recovery. Despite exomphalos and gastroschisis normally being discrete entities, ambiguity in the presentation this case necessitated a composite management approach.