Diagnosis Of Omphalocele Research Articles

Омфалоцеле - щодо тактики ведення та лікування

An omphalocele is an abdominal defect covered by a membranous sac consisting of three layers: peritoneum, jelly of the ventricle and amnion as the outer layer. The vessels of the umbilical cord flow into the top of the pouch, which usually contains the herniated abdominal contents: intestines, liver, spleen, bladder and/or gonads. The pouch covers and protects the herniated organs from harmful external influences. Purpose - to improve care for patients with omphalocele, improve their life quality by updating treatment standards using the experience of other countries around the world. A literature review is provided and personal experience is highlighted - 2 clinical cases with a diagnosis of omphalocele. Both underwent operative treatment. All children recovered and were discharged from the clinic. Depending on the clinical manifestations, the size of the defect and the content of the hernia sac, the term and tactics of treatment differ. Conclusions. The discussion about the tactics of omphalocele treatment depending on the size is still relevant. Clinical recommendations for the management of omphalocele remain only recommendations, and in each individual case, the decision regarding the terms and methods of treatment remains with the surgeon. It is necessary to remember the possibility of entrapment, which forces the surgeon to perform urgent surgical intervention. No conflict of interests was declared by the authors.

942Prevalence of genetic abnormalities in isolated and non-isolated fetal omphalocele

To determine the prevalence of pathogenic/potentially pathogenic genetic findings in isolated and non-isolated fetal omphalocele. This was a retrospective cohort study of patients referred to a single tertiary care center from 2004-2019 with a diagnosis of omphalocele. Images were reviewed to assess for the presence of additional fetal anomalies, which were grouped by organ system. The primary outcome was a suspected/proven genetic variant. Results from screening by non-invasive prenatal testing (NIPT) and genetic testing (including karyotype, microarray, Beckwith-Wiedemann methylation (BWS) studies, and whole exome screening (WES)) were reviewed. Groups were compared using Chi-squared or Fisher’s exact tests, as appropriate. We identified 107 cases of omphalocele with genetic results; 58 (54.2%) were isolated, 49 (45.8%) had additional anomalies. Anomalies were noted in the following organ systems: cardiac (n=32; 65.3%), neurologic (n=11; 34.3%), limb (n=15; 30.6%), craniofacial (n=8; 16.3%), spine (n=7; 14.3%), gastrointestinal (n=6 12.2%), and urological (n=5; 10.2%). Abnormal genetic results occurred in 28% (n=30) of the overall cohort (Table 1). Among those with isolated omphalocele, 19.0% (n=11) had genetic abnormalities, as compared to 38.8% (n=19) with a non-isolated omphalocele (p=0.02). In a those with a non-isolated omphalocele, aneuploidy was the most common genetic finding (Table 2). Aneuploidy was significantly more likely in those with non-isolated omphaloceles (25% vs 8.9%, p=0.02). There was no difference in abnormal genetic findings on microarray or BWS methylation between isolated and non-isolated omphalocele groups (microarray 9.1% vs 11.1%, p=0.82; BWS 12.5% vs 25%, p=0.51). WES was normal for both groups. Non-isolated omphalocele is associated with a substantially increased risk of genetic abnormality, particularly aneuploidy. For isolated cases, the risk of pathological genetic findings remains high. Genetic analysis should be strongly recommended in both isolated and non-isolated omphaloceles.View Large Image Figure ViewerDownload Hi-res image Download (PPT)

Prenatal genetic diagnosis of omphalocele by karyotyping, chromosomal microarray analysis and exome sequencing

Objectives 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). Methods 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. Results 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), χ 2 = 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. Conclusions 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.

Real opportunities for early prenatal diagnosis of omphalocele

During 5 years in the first trimester of pregnancy 82 cases of congenital anomalies of fetal development were diagnosed, in 14 cases (17%) an omphalocele was found. An analysis of the results of prenatal examination of fetuses with omphalocele in an isolated and combined version has been carried out. In 78% of cases, omphalocele was combined with other fetal anomalies, most often with congenital heart defects (82%). The frequency of chromosomal abnormalities in fetuses with omphalocele was 69%. Perinatal outcome in the case of early prenatal omphalocele diagnosis is unfavorable in 93% of cases. Early prenatal diagnosis of omphalocele is possible in 100% of cases. Diagnosed in the first trimester of pregnancy, omphalocele is an indication for an extended anatomical evaluation of the fetus with the aim of forming a clinical hypothesis and conducting timely optimal prenatal counseling.

Long term complications and outcomes in omphalocele

After a diagnosis of omphalocele during pregnancy, questions regarding long-term prognosis are of primary importance for parents. It is imperative that their questions are answered with substantiated data to promote confident decisions for their children. They frequently express concerns regarding long-term survival, quality of life, need for more operations, feeding issues, motor and cognitive development, cosmesis, and the unique difficulties of giant omphaloceles. The available outcome studies that address these questions are discussed.

OC27.04: Utility of infectious and cystic fibrosis workup in prenatal diagnosis of echogenic intra‐abdominal structures

To evaluate the incidence of neonatal congenital and infectious outcomes for patients diagnosed with fetal echogenic intra-abdominal structure (EIAS). This is a retrospective cohort study of patients diagnosed with EIAS during anatomical survey ultrasound at a high-volume maternal fetal medicine centre from January 2015-December 2017. EIAS was defined as an echogenic structure in the fetal abdomen >1 mm, and was evaluated by location. Charts were abstracted to determine rates of testing for cystic fibrosis (CF) and infection. Neonatal diagnoses of CF, congenital infection, small for gestational age (SGA), and postpartum bowel findings were evaluated. There were 128 fetuses with EIAS: 110 resulted in live births, 15 terminated the pregnancy (median GA 20.6 weeks) and 3 had intrauterine fetal demise (median GA 20.2 weeks). Sixty-one (47.7%) subjects had CF testing, and there were no fetuses with both partners testing positive on carrier screening. There were also no cases of CF in the 110 live births. Eighty-three (64.8%) mothers were tested antenatally for TORCH infections. Four (4.8%) had positive IgM (3 CMV, 1 Toxoplasma) resulting in amniocentesis, with no cases of fetal infection. No neonates were diagnosed with congenital TORCH infections. Thirteen (10.1%) had a birth weight of <2500g, and of these, 53.8% were preterm. There was no statistical difference in SGA and prematurity between fetuses with echogenic bowel and EIAS. There were three significant neonatal bowel findings (2.7%): one neonate had a meconium plug, one neonate had an imperforate anus requiring anoplasty, and one neonate had a known diagnosis of omphalocele, with no statistical difference between echogenic bowel and EIAS. This study suggests the actual rates of CF or infections in prenatal diagnoses of EB or EIAS may be less than previously thought. The necessity of infection and CF work-up, particularly with newer sequencing technology, needs to be reassessed in larger populations.

Congenital Heart Defects Coexisting with Omphalocele - the Important Prognostic Factor

Abstract Introduction: The aim of this study was to evaluate the following parameters of fetuses and neonates with omphalocele: the prevalence of coexisting congenital heart defects (CHD), abnormalities in heart function and the impact of coexisting CHD on fetal and neonatal survival. Material and methods: The study group consisted of 69 fetuses with omphalocele diagnosed and monitored at the Department of Prenatal Cardiology in our Institute in the years 2007-2017. The retrospective analisis of patients' data was performed. For statistical analysis we used Chi-square test, t-Student test and U Mann-Whitney test.. Results: In the studied group omphalocele was an isolated defect in 31.9% of the cases (22/69), in 68.1% (47/69) coexisting defects were present, in 49.3% (34/69) the coexisting defect was CHD. The most common CHD coexisting with omphalocele were ventricular septal defect (VSD), double outlet right ventricle (DORV) and atrio-ventricular septal defect (AVSD). Abnormalities of heart function were present in 43.5% (30/69) of fetuses with omphalocele: 23.5% (8/34) with normal heart anatomy and in 62.9% (22/35) with CHD. Statistically significant differences between the group with normal heart anatomy and the group with CHD regarded: Cardiovascular Profile Score (CVPS) (median 10 points vs median 9 points, U Mann-Whitney test p=0.034), neonatal birth weight(mean 3253 g vs median 2700 g, U Mann-Whitney test p=0.003), Apgar score (median 8 vs median 7, U Mann-Whitney test p=0.038) and survival rate until discharge from hospital (85% vs 52.9%, Chi-square test p=0.034). The comparison of data from 2007-2017 with data obtained from similar analysis performed in our center in 1999-2006, revealed significant improvement in the early detection of omphalocele (median 14.5 weeks of gestation vs mean 25.4 weeks of gestation), gestational age of delivery (mean 38 weeks of gestation vs mean 34 weeks of gestation) and survival rate until discharge both in neonates with normal heart anatomy and coexisting CHD (85% and 52.9% vs 70% and 23% respectively) . Conclusions: 1. The presence of coexisting CHD is an important prognostic factor in fetuses and neonates with omphalocele, so early fetal echocardiography should be performed in every case of omphalocele. 2. During the last decade (2007-2017), in contrast to years 1999-2006, we observed significant improvement in early and complete prenatal diagnosis of omphalocele. 3. We observed improvement in strategy of obstetrical management resulting in delivering neonates in a more advanced gestational age both in the group with normal heart anatomy and the group with coexisting CHD.

Large Hernia of Umbilical Cord Misdiagnosed as Omphalocele.

We read with interest case series of “Hernia of umbilical cord: Report of three unusual cases” [1] and want to mention our own case where a misdiagnosis led to inadequate management resulting in loss of 30cm of small bowel. A 12hour-old male baby delivered via Caesarian section due to prenatal diagnosis of omphalocele. He was attended by a surgical resident and labelled as omphalocele major and advised mercurochrome paint. Next day, the neonate became lethargic. Abdominal examination showed protrusion of bowel through the umbilicus into an omphalocele like sac with dark maroon discoloration on one side (Fig. 1). There was not abdominal wall defect and umbilicus was normally sited. At the base there was a skin collar of about 2 cm. The patient was immediately prepared for laparotomy with a suspicion of bowel necrosis. On opening the sac, serosanguineous fluid was drained. The part of ileum was necrotic while most of jejunum and ileum were edematous. The incision extended cranially in midline and small bowel was delivered. Grossly necrotic ileum measuring 30cm was excised and end to end anastomosis was done. Malrotation was also present and corrected. Primary closure easily achieved due to bowel resection. The postoperative recovery was uneventful with a follow-up of 6 months. Our case is unique since large sac with hemorrhage was giving appearance of herniated liver causing the condition to be misdiagnosed as omphalocele major. It is mandatory to look carefully in a case of omphalocele for presence of any true abdominal wall defect, umbilical ring, and the base for presence of skin collar so that the condition is not misdiagnosed.

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

An omphalocele, a fetal abdominal defect, is a very important congenital anomaly. Prenatal diagnosis of fetal omphalocele is crucial to clinical management. ObjectiveTo investigate the accuracy of prenatal diagnosis for fetal omphalocele, we undertook a retrospective and consecutive analysis of our ultrasound database between January 1994 and December 2011. Materials and MethodsIn total, ultrasound (US) detected 52 fetuses with an omphalocele in utero. ResultsThe incidence of fetal omphalocele is estimated as 1:1249 (0.08%). We also compared the gestational age at US diagnosis between the two centuries. In the 20th century, 22 cases of omphalocele were detected: four (18%) cases at first trimester, 17 (77%) cases at second trimester, and 1 (5%) case at third trimester. In the 21st century, 30 cases of omphalocele were detected: 13 (43%) cases at first trimester, 15 (50%) cases at second trimester, and two (7%) cases at third trimester. The gestational age at diagnosis of omphalocele is significantly earlier in the 21st century than in the last century. ConclusionWith the advancement and improvement in US equipment, the early detection of fetal omphalocele is feasible, which will substantially contribute to fetal wellbeing.

The role of three-dimensional ultrasound in the differential diagnosis of omphalocele and gastroschisis

The role of three-dimensional ultrasound in the differential diagnosis of omphalocele and gastroschisis

FIRST-TRIMESTER SONOGRAPHY OF PHYSIOLOGICAL MIDGUT HERNIATION AND EARLY DIAGNOSIS OF OMPHALOCELE

Embryological development was investigated by ultrasonography in a longitudinal study of 18 normal pregnancies. The appearance of midgut herniation was studied and if present, its circumference was valued. In addition, patients with an elevated risk for anomalies were scanned between 10 and 16 weeks of gestation. In 17 fetuses, the diagnosis of omphalocele was made between 11 and 16 weeks. The ratio between the circumference of the omphalocele and abdomen was calculated and the contents of the omphalocele were evaluated. Eight of the fetuses had an abnormal karyotype and a mean omphalocele/abdomen ratio of 0.38 (SD 0.191), whereas the mean ratio of omphalocele and abdomen in the eight euploid fetuses was 0.88 (SD 0.291). Regarding the contents of the omphalocele, mainly bowel loops were eviscerated in all fetuses with an abnormal karyotype. The contents of the omphalocele sac in the euploid cases contained liver in all eight fetuses. In 16 out of 17 anomalous fetuses (91 per cent), associated findings were detected. Nuchal translucency was the most frequently visualized concurrent finding and its occurrence was associated with an abnormal chromosome pattern. A small sac size is a strong indication for aneuploidy, especially in combination with nuchal translucency. Prior to 12 weeks of gestation, the diagnosis of omphalocele can be made in cases of a large omphalocele.

Prenatal diagnosis and management of gastroschisis and omphalocele

Prenatal diagnosis of gastroschisis (GS) and omphalocele (OC) has allowed improved antenatal and perinatal management. It was the aim of this study to compare prenatal findings and assess fetal outcome. Twenty-four fetus with GS and 33 with OC were diagnosed prenatally. Maternal serum alpha-protein (MSAFP), sonographic (US), and perinatal data were analyzed. The average maternal age for GS was younger than for OC (24 vs. 30 years). The median MSAFP values were 7.7 multiples of median for GS and 3.6 for OC. The initial US diagnosis was made at 22 weeks for GS and at 19 weeks for OC. A pathological karyotype was observed in 4% of the fetuses with GS and 33% with OC. The mortality of fetuses with OC was twice as high as that of those with GS. Accurate prenatal diagnosis of GS and OC as well as their differentiation are of crucial importance for both counselling of the parents and the resulting antenatal consequences, and provide the basis for optimal interdisciplinary co-operation at a perinatal tertiary-care center.

Significance of antenatal diagnosis of omphalocele

A comparison has been made between 16 infants with omphalocele treated between 1962 and 1975 (group A) and 22 treated between 1976 and 1989. In the latter group 11 antenatally detected cases (group C) were considered separately from the 11 cases diagnosed at birth (group B). Recent advances have reduced the mortality for neonates with omphalocele from 37.5% in group A to 18.2% in group B. However, despite antenatal diagnosis, maternal transport, and early perinatal care, a surprising increase in mortality (45%) was observed among neonates with omphalocele detected antenatally (group C). Seven cases in group C (60%) also had other lethal or potentially lethal multiple anomalies including trisomy 13 or 18, and it is probable that the high mortality in this group was a result to these associated anomalies. Before the introduction of antenatal diagnosis, most of these infants would have died before referral to a pediatric surgeon for treatment. In general, if omphalocele is an isolated lesion the prognosis for survival following postnatal surgical correction exceeds 90%; in such cases, antenatal diagnosis may potentially contribute to improved survival. However, the presence of other multiple and/or untreatable malformations in the group diagnosed antenatally is associated with a poor overall prognosis.

Prenatal diagnosis of a fetus with terminal deletion of chromosome 1 (q41)

Many authors have suggested that individuals affected by a terminal 1q deletion display a phenotypically definable and recognizable syndrome. In all of the 27 cases reported to date, the breakpoints were at band q42 or distally to it. To our knowledge, we report the first case of a terminal 1q41 deletion. Diagnosis was made prenatally by amniocentesis, following ultrasonographic diagnosis of omphalocele, cerebral ventriculomegaly, and increased nuchal fold thickness in a 19-week female fetus. Multiple facial and extremity features were consistent with the proposed distal 1q deletion syndrome; omphalocele, however, has not been reported previously. The absence of liver herniation into the omphalocele sac in this case supports the previously reported association of this finding with chromosomal anomalies.

Prenatal diagnosis of abdominal wall defects.

The antenatal diagnosis of omphalocele and gastroschisis is briefly reviewed, together with the major differences between the two lesions. The frequency of associated anomalies in cases of omphalocele is stressed. The controversy regarding the mode and timing of delivery is outlined.

Prenatal diagnosis of omphalocele and gastroschisis by ultrasonography

As the use of ultrasonography has become a routine procedure in the care of pregnant women, fetal congenital malformations have been frequently diagnosed prenatally. During a 4-year period abdominal wall defects (AWD) were diagnosed in 14 cases, five were gastroschises and nine were omphaloceles, seven females and seven males. Concomitant malformations were present in one case of gastroschisis and in five cases of omphalocele. Eleven AWD's were diagnosed in the second trimester and six pregnancies were interrupted. Eight children with AWD were born; two boys with omphalocele and one girl and one boy with gastroschisis are still alive. Alpha-fetoprotein was determined in amniotic fluid in 11 cases and also in maternal serum prior to the amniocentesis in eight cases. Chromosomal investigations were performed in 13 cases, 11 on amniotic fluid cells and two on lymphocytes from a blood sample made postnatally. Two abnormal karyotypes, 47,XX + 18 were found.