Cases Of Exomphalos Research Articles

Prenatal diagnosis of exomphalos and prediction of outcome

The aim of this study was to detect a parameter for predicting prenatal complications or postnatal surgical options after detecting a fetal exomphalos. This was a retrospective analysis of prenatal diagnosis and outcome of fetuses with 41 cases of exomphalos in between 2007 and 2017, considering the measurement of ratios. The 41 fetuses with exomphalos were examined, 34 cases (82.9%) with karyotyping and 16 cases (39%) with an abnormal karyotype. Outcome of 39 cases showed 6 abortions (15.4%), 15 terminations (38.5%), an intrauterine fetal death (2.5%) and 17 alive babies (43.6%), which were grouped in two: small exomphalos (n = 6, 35.3%) and big exomphalos (n = 11, 64.7%). Maximal diameter of exomphalos/abdomen circumference-ratio (EDmax/AC-ratio) with a cut-off of 0.24 showed a better predictive value of postnatal primary closure. Exomphalos is correlated with abnormal karyotype. EDmax/AC-ratio gives the best prediction for postnatal primary closure of the defect.

Exomphalos without other prenatally detected anomalies: Perinatal outcomes from 22 years of population-based data.

To ascertain the perinatal outcomes for an apparently isolated exomphalos detected by prenatal ultrasound. Our dataset captures cases from 614 321 births in the Wessex region of England and the Channel Isles on all cases of pre- or postnatally diagnosed exomphalos from 1994 to 2015. Ascertainment was >95%. Three hundred and thirty five cases were reported to the register: 28 (8%) were not detected prenatally, 18 (6%) had already died in utero, 169 (55%) cases were found to have additional anomalies on first tertiary ultrasound scan and one case was lost to follow-up. Therefore 119 (39%) cases had an apparently isolated exomphalos. Of the 119 cases with only an exomphalos detected on first tertiary ultrasound scan, 25 (21%) had a chromosome abnormality. Of those with a normal or untested karyotype, 61% were confirmed to be an isolated anomaly after birth, 13% had an additional heart abnormality, 9% had Beckwith-Wiedemann syndrome and 11% had additional problems diagnosed postnatally. Our large population-based dataset with an average of 1 year's postnatal follow-up suggests that more than one-third of apparently isolated prenatal cases of exomphalos will have an additional finding detected after birth. These data should help assist clinicians in their prenatal counseling.

Evaluating the time trends in prevalence of exomphalos in 14 cities of Liaoning province, 2006 to 2015.

To evaluate time trends of exomphalos prevalence using a large population-based study with cases identified by the Liaoning Birth Defects Registry including 14 cities over the course of a 10-year period. Exomphalos prevalence, percent change, annual percent change (APC), and contribution rates of each city were calculated. Additionally, epidemiological characteristics of this malformation were described. We observed 516 cases of exomphalos among 3,248,954 live births. Birth prevalence of exomphalos was 1.59 per 10,000 live births with non-significant change during the observational period (APC = −1.19%, P = 0.48). However, significantly decreasing trends were noticed in three cities: Fushun (APC = −9.15%, P = 0.03), Benxi (APC = −11.49%, P = 0.05), and Yingkou (APC = −16.47%, P = 0.04), contributing 62.77% of the decreasing trend of overall prevalence. The mean maternal age, gestational age, and birth weight was 28.4 years (standard deviation [SD], 6.1 years), 25.6 weeks (SD, 8.6 weeks), and 1236.2 gram (SD, 1164.4 gram). For time of diagnosis, 79.8% (n = 412) cases were diagnosed during pregnancy. In summary, the prevalence of exomphalos in Liaoning province did not change remarkably during 2006 to 2015. Future studies are warranted to investigate the risk factors and create prevention strategies for this disease.

EP09.29: Outcome of pregnancies complicated with exomphalos in Wales during a 14 year period (1998–2012)

The aim of this study was to review all the cases of fetal exomphalos reported to CARIS (Congenital Anomaly Register and Information Service for Wales) during the period of 1998 to 2012. All congenital anomalies diagnosed during pregnancy or after birth are notified to CARIS in Wales. This database was used to identify all cases of exomphalos diagnosed and reported to CARIS during the period of 1998–2012. The database was searched to find the total number of cases reported, the gestation at which diagnosed, karyotype of fetus, associated structural anomalies and outcome of neonates. A total of 236 cases of exomphalos were reported to CARIS during this 14 year period. Of these, 183 (77.5%) were diagnosed antenatally. A total of 111 (47%) mothers opted for termination. The live births were 93 (39.4%). Karyotype was available for 104 cases of which 73 (70%) were abnormal. Majority of abnormalities were Trisomy 18. In 78.8% of cases, exomphalos was associated with other structural abnormalities. The commonest defects were cardiac (22.5%), spinal (9.7%) and renal (9.7%). This is one of the largest study of exomphalos in pregnancy. There was a high incidence of abnormal karyotype as well as associated structural abnormalities. Of the abnormal karyotypes, Trisomy 18 seemed to be the most common. Cardiac abnormality was the commonest associated structural defect.

A simple technique for the repair of a complex case of exomphalos major

Various techniques have been tried and described by various surgeons to repair an exomphalos major. Our patient was a case of giant exomphalos, also called a hepato-omphalocele, presenting at 22 months of age with a major exodus of abdominal viscera. Our technique of staged repair was simple, innovative, without the use of prosthesis or elaborate equipment, did not require assisted ventilation or prolonged hospital stay and consequently cut on the cost of treatment. There were no post-operative complications and the result was very satisfactory. We wish to call it the ‘Kaul-Bedi Technique’ for repair of complex omphaloceles.

The effect of the contents of exomphalos and nuchal translucency at 11–14 weeks on the likelihood of associated chromosomal abnormality

Previous publications suggest that exomphalos containing the liver as less likely to be associated with aneuploidy. The objective of the study was to explore the influence of exomphalos contents and nuchal translucency (NT) on the likelihood of aneuploidy. A retrospective search was conducted to identify all cases of exomphalos from the databases of two fetal medicine units seen from September 2000 to March 2011. A total of 95 fetuses with exomphalos were selected. NT was normal in 42 fetuses (44.2%). The exomphalos content was bowel alone in 68 (71.6%). The effect of exomphalos content and NT on likelihood of aneuploidy was explored using logistic regression. It showed no significant contribution of exomphalos content on the likelihood of aneuploidy (adjusted odds ratio: 1.44, 95% CI: 0.538 to 3.84). When the diagnosis is made in the first trimester, the risk of aneuploidy is no different when the sac contains only bowel as compared with when it contains the liver. Increase in the NT is 4-5 times as likely with an abnormal karyotype as with normal NT. Detection of exomphalos in the first trimester warrants an offer of chromosomal assessment regardless of sac contents or NT.

The effect of the contents of exomphalos and nuchal translucency (NT) at 11-14 weeks on the likelihood of aneuploidy

Is widely accepted that exomphalos containing liver is less likely to be associated with aneuploidy. We explore the influence of exomphalos contents and nuchal translucency (NT) on the likelihood of...

A rare case of exomphalos with an umbilical cord teratoma

A healthy 34-year-old para 1 had a normal booking scan. At 20 weeks gestation, on the anomaly scan, a well-defined echogenic area was identified within the cord, adjacent to which...

Outcome of fetal exomphalos diagnosed at 11–14 weeks of gestation

To determine whether sonographic findings in cases of exomphalos detected at the 11-14-week scan can be used to guide pregnancy management. Retrospective study of cases of exomphalos identified from the Fetal Medicine Unit database, University College London Hospitals between January 1998 and January 2010. Pregnancy and neonatal data were ascertained from maternal and neonatal records. Fetal exomphalos was categorized into three groups: exomphalos associated with other major structural malformation(s), isolated exomphalos with increased nuchal translucency (NT) and isolated exomphalos with normal NT. A total of 98 cases of exomphalos were identified, of which 45 (45.9%) were associated with other major structural malformation(s), identified antenatally. Isolated exomphalos was found with increased NT in 22 cases (22.4%) and with normal NT in 31 cases (31.6%). Of 80 (81.6%) fetuses that were karyotyped, 43 (53.8%) had a chromosomal abnormality; the most common aneuploidy was trisomy 18 (n = 31; 72.1%). Where exomphalos was associated with other major structural abnormalities, or was isolated with increased NT, the incidence of aneuploidy was high, at 78.9% and 72.2%, respectively. Cases of isolated exomphalos with normal NT were all euploid. In 21 cases (21.4%), exomphalos resolved later in pregnancy and none had apparent abnormalities at birth; isolated exomphalos persisted in only three neonates (3.1%). The finding of a major structural abnormality or of increased NT in association with exomphalos in the first trimester implies a high risk of aneuploidy. Parents can be reassured that fetuses with isolated exomphalos and normal NT are likely to be euploid.

Fatal septicemia by multidrug-resistant Enterococcus faecium in a case of exomphalos minor

Exomphalos minor is one among uncommon disorders of the umbilical region. Here, we report a fatal case of exomphalos minor with enterococcal septicemia. A male baby, born with exomphalos minor, developed clinical features of septicemia on the fourth postnatal day. Blood samples were collected by venepuncture from two sites for culture. Enterococcus faecium was isolated from both the blood samples. The swabs collected from the site of exomphalos also yielded growth of Enterococcus faecium, confirming the source of infection. The antibiogram with Minimum Inhibitory Concentrations (MIC) for various antibiotics was done for isolates from all three sites, which was similar. The isolate was resistant to multiple antibiotics with high level aminoglycoside resistance. The baby was treated with antibiotics and other supportive measures. However, the baby succumbed to the septicemia. As per our knowledge, this is the first reported case of fatal septicemia by multidrug-resistant Enterococcus faecium in a case of exomphalos minor.

Outcomes of antenatally diagnosed exomphalos

ObjectiveTo determine outcomes for antenatally diagnosed exomphalos over an 11 year period.MethodAll cases diagnosed with exomphalos (January 1998–December 2008) in a fetal medicine unit at a tertiary unit were reviewed.Results96...

Outcome of fetal exomphalos diagnosed at 11–14 weeks of gestation

ObjectiveThe aim of this study was to review the outcome of fetal exomphalos detected at 11–14 weeks of gestation.MethodRetrospective study of cases of exomphalos identified from the Fetal Medicine Unit...

Birth prevalence of exomphalos, associated anomalies and outcomes in England & Wales: 1997–2007

BackgroundThe majority of cases of exomphalos are diagnosed during the antenatal period. Up-to-date information about associated anomalies and outcomes are required to facilitate counselling and management.AimTo examine the trend in...

Current outcome of antenatally diagnosed exomphalos: an 11 year review

Purpose The aim of this study was to determine the outcome of antenatally diagnosed exomphalos. Methods The database of a tertiary referral Fetal Medicine Centre was searched for all cases of antenatally diagnosed exomphalos between January 1991 and December 2002. Patients, general practitioners, and hospitals were contacted for outcome details. Results In total, 445 cases of exomphalos were identified. In 250 (56%) cases, the fetal karyotype was abnormal (group A), in 135 (30%) cases, the karyotype was normal (group B), and in 60 (14%) cases, karyotyping was declined (group C). In group A, there were 248 (99%) terminations of pregnancy (TOP) or fetal deaths and 2 live births. In group B, 74 (54%) fetuses had other structural anomalies; 82 (61%) pregnancies resulted in TOP or fetal death, 42 (31%) in live births, and 11 (8%) were lost to follow-up. In group C, 38 (63%) fetuses had other structural anomalies; 41 (69%) pregnancies resulted in TOP or fetal death, 11 (18%) in live births, and 8 (13%) were lost to follow-up. Of the 55 live births, 11 died preoperatively and 44 had surgery. There were no postoperative deaths. Conclusions Less than 10% of the antenatal diagnostic workload reached operative repair. In our unit, these babies are a highly selected group, which is a factor in the high postoperative survival.

A case of exomphalos successfully treated by operation

A case of exomphalos successfully treated by operation

P14.51: Case of exomphalos complicated with umbilical cord teratoma

P14.51: Case of exomphalos complicated with umbilical cord teratoma

Exomphalos in the West of Scotland (1987–2002)

Exomphalos is seen in approximately 3/10000 deliveries. Prognosis is related to the size of the defect and whether chromosomal or other structural abnormalities are present. Information regarding obstetric and paediatric outcomes for those pregnancies affected with exomphalos is essential in order that patients can receive accurate counselling. Ultrasound diaries, perinatal meeting lists, pathology reports, neonatal and paediatric admission records were used to identify cases of exomphalos from July 1987 to July 2002. The obstetric and paediatric case notes were then reviewed. Sixty per cent of cases of exomphalos were detected antenatally. Karyotype was obtained in 41%, and in 36% of these cases an abnormal karyotype was identified; 67% of cases were isolated lesions; 67% of women underwent termination of pregnancy; 33% women elected to continue with their pregnancy. Of these 65% had a live birth and 35% had an intrauterine death or miscarriage. In total 26% cases of exomphalos resulted in a live birth. Eighty-four per cent of these infants survived beyond 1 year.

Neonatal outcome of gastroschisis and exomphalos: a 10-year review.

To study neonatal outcomes associated with gastroschisis and exomphalos in a regional neonatal unit. A retrospective (1988-97) data analysis to study the effect of the type of defect/surgery, mode/place of delivery and associated anomalies on time to start and reach full feeds, duration of total parental nutrition (TPN) support and total hospital stay. Exact bivariate test procedures were used for data analysis. Twenty-one cases of gastroschisis (17 inborn) and five cases (four inborn) of exomphalos were identified. Of these, 23.8% cases of gastroschisis and 60% of cases of exomphalos had associated gut anomalies. The survival rates for gastroschisis and exomphalos were 91 and 100%, respectively. The median time to start and reach full enteral feeds in outborn neonates was longer than in inborn neonates (9 vs 25 days, respectively, P = 0.01; and 16 vs 49 days, respectively, P = 0.01), as was the duration of TPN support (14 vs 42 days, respectively; P = 0.02). Neonates with gastroschisis had significant delays in starting and reaching full feeds compared with neonates with exomphalos (median 13 vs 4.5 days, respectively, P = 0.03; and 24 vs 8, respectively, P = 0.02) and they required prolonged support with TPN (median 23 vs 6 days, respectively; P= 0.01). Antenatal detection was significantly more frequent in inborn compared with outborn neonates (100 vs 67%, respectively; P = 0.03). The severity of associated gut anomalies and the delivery to surgery interval did not differ significantly to explain the increased morbidity in outborn neonates. Outcome was not significantly different after analysis by type of surgery and mode of delivery. Increased morbidity in outborn neonates may be related to factors such as temperature, care, hydration status, care of the defect and vascular compromise of prolapsed gut during prolonged transportation.

Influence of Antenatal Ultrasound on the Management of Fetal Exomphalos

Objective: To determine the influence of antenatal ultrasound on the management of exomphalos. Methods: Retrospective case note review of 23 fetuses and infants referred to our institution with either a pre- or postnatal diagnosis of exomphalos over a 7-year period. Results: There were 21 cases of exomphalos of which 18 were correctly diagnosed on antenatal ultrasound by 18 weeks’ gestation. There were 2 false-positives and 3 false-negatives, including 1 case of amniotic band syndrome with an abdominal wall defect and 1 morphologically normal fetus. Associated anomalies were correctly identified in 12 but incorrectly reported in 8. Maternal serum α-fetoprotein levels were abnormal in 61% of cases of abdominal wall defects in this series. Amniocentesis was performed in 12 and cordocentesis in 1. There were 13 terminations, including 2 trisomy 18s and 1 trisomy 13. Two fetal deaths followed amniocentesis. Of the 10 live births, 9 had their exomphalos repaired with a 1-year survival rate of 89%. Prenatal diagnosis did not appear to influence outcome. Conclusions: Antenatal ultrasound diagnosed 86% of cases of exomphalos and correctly reported 67% of associated anomalies. Amniocentesis may have led to the death of 1 morphologically normal fetus.

Congenital anterior abdominal wall defects in the north of England, 1986-1996: occurrence and outcome.

The aim was to describe trends in prevalence, maternal age-specific prevalence, associated anomalies, clinical outcomes and the sensitivity of antenatal diagnosis of congenital anterior abdominal wall defects (in particular gastroschisis and exomphalos). Data were identified from a population-based register of major congenital abnormalities in the Northern health region of England, the Northern Congenital Abnormality Survey (NorCAS), between 1986 and 1996. 296 cases were notified; there were 133 cases of gastroschisis, 98 exomphalos, 30 limb-body wall defects and 23 other anterior abdominal wall defects. 12 cases could not be classified. In 19 (6 per cent) the initial diagnosis was changed following case review. 30 (30.6 per cent) cases of exomphalos were associated with a chromosomal anomaly compared with 1 (0.8 per cent) case of gastroschisis. The total prevalence for the 11 years was 6.33 (95 per cent CI=5.57-7.08) per 10 000 live births, still births and terminations of pregnancy, and the overall birth prevalence was 4.30 (95 per cent CI=3.68-4.93) per 10 000 live births and still births. For gastroschisis, there was a significant increase over the study period in both the total prevalence (1.48 in 1986 to 5.29 per 10 000 in 1996; chi(2)=8.41, p=0.00433) and the birth prevalence (1.48 in 1986 to 4.72 per 10 000 in 1996; chi(2)=7.42, p=0.00644), but there was no such significant increase for exomphalos (total prevalence chi(2)=2.29, p=0.13055; birth prevalence chi(2)=0.16, p=0.69348). The maternal age-specific prevalence was highest in the 11-19 year age group for gastroschisis but in the 35-39 year age group for exomphalos. Fewer pregnancies with gastroschisis resulted in a termination and a greater proportion of cases were alive at one year compared with exomphalos. The sensitivity of abnormality detection by ultrasonography was 75 per cent and 77.3 per cent for gastroschisis and exomphalos, respectively. Antenatal diagnosis improved from 47.4 per cent during 1986-91 to 80 per cent between 1992-96 for gastroschisis (chi(2)=5.7, p=0.00169), and from 55.6 per cent to 68.8 per cent for isolated exomphalos, although this increase was not significant. Total and birth prevalence of gastroschisis increased in the Northern region between 1986 and 1996. For exomphalos, there was a trend towards an increase in total prevalence and towards a decrease in birth prevalence. This decreasing trend has been accompanied by improvements in antenatal detection and subsequent termination of cases of exomphalos associated with other anomalies.