Incidence Of Omphalocele Research Articles

Gastroschisis and omphalocele: Incidence and outcome

Gastroschisis and omphalocele are the most common congenital abdominal wall defects. The main purpose of this study was to investigate the incidence, other associated anomalies and the course of these diseases in Iceland. The study was retrospective. The population was all newborns who were admitted to the NICU of Children's Hospital Iceland due to gastroschisis or omphalocele in 1991-2020. Furthermore, all fetuses diagnosed prenatally or post mortem where the pregnancy ended in spontaneous or induced abortion, were included. During the study period, 54 infants were born with gastroschisis and five with omphalocele. The incidence of gastroschisis was 4.11 and omphalocele 0,38/10,000 births. There was no significant change in the incidence of the diseases during the study period. In addition, five fetuses were diagnosed with gastroschisis and 31 with omphalocele where the pregnancy was terminated. In addition to gastroschisis in the live born infants and fetuses the most common associated anomalies were in the gastrointestinal or urinary tract but in infants and fetuses with omphalocele anomalies of the cardiac, central nervous or skeletal systems were the most common. Sixteen fetuses diagnosed with omphalocele had trisomy 18. Mothers aged 16-20 were more likely to give birth to an infant with gastroschisis than older mothers (p< 0.001). Primary closure was successful in 86% of the infants. Those reached full feedings significantly earlier and were discharged earlier. Overall survival rate was 95%. Three children were still receiving parenteral nutrition at discharge due to short bowel syndrome. The incidence of gastroschisis in Iceland is in accordance with studies in other countries but but the incidence of omphalocele is lower, which can be partly explained by spontaneous or induced abortions. Other anomalies associated with omphalocele are more severe than those associated with gastroschisis. Primary closure was associated with more benign course. Children with gastroschisis may need prolonged parenteral nutrition due to shortening of their intestines.

Mexican-American Women’s Lifelong Residence in the United States Is Associated with an Increased Risk of Gastroschisis: A Population-Based Study

To determine whether nativity is associated with abdominal wall defects among births to Mexican-American women. Using a cross-sectional, population-based design, stratified and multivariable logistic regression analyses were performed on the 2014-2017 National Center for Health Statistics live-birth cohort dataset of infants of US-born (n=1 398 719) and foreign-born (n=1 221 411) Mexican-American women. The incidence of gastroschisis was greater among births to US-born compared with Mexico-born Mexican-American women: 36.7/100 000 vs 15.5/100 000, RR=2.4 (2.0, 2.9). US-born (compared with Mexico-born) Mexican-American mothers had a greater percentage of teens and cigarette smokers, P<.0001. In both subgroups, gastroschisis rates were greatest among teens and decreased with advancing maternal age. Adjusting for maternal age, parity, education, cigarette smoking, pre-pregnancy body mass index, prenatal care usage, and infant sex), OR of gastroschisis for US-born (compared with Mexico-born) Mexican-American women was 1.7 (95% CI 1.4-2.0). The population attributable risk of maternal birth in the US for gastroschisis equaled 43%. The incidence of omphalocele did not vary by maternal nativity. Mexican-American women's birth in the US vs Mexico is an independent risk factor for gastroschisis but not omphalocele. Moreover, a substantial proportion of gastroschisis lesions among Mexican-American infants is attributable to factors closely related to their mother's nativity.

Эпидемиология омфалоцеле: анализ данных региональных регистров врожденных пороков развития в РФ

Omphalocele is a congenital malformation belonging to the group of abdominal wall defects. Objective. To determine the incidence of omphalocele and analyze its dynamics for the period 2011–2018 in the regions of the Russian Federation according to monitoring data of congenital anomalies. Materials and methods. Statistical analysis of omphalocele cases among newborns and fetuses with malformations for the period 2011–2018 in 22 regions of the Russian Federation was carried out. The incidence of malformations was calculated per 10,000 births. Results. A total of 1,073 cases of omphalocele were reported from 2011 to 2018, of which 69.34% were in fetuses eliminated due to the prenatal detection of malformation, 27.03% – in liveborn fetuses, and 3.63% – in stillborn fetuses. The male to female ratio was 1.56:1. The overall incidence of omphalocele was 2.95 (95% CI 2.77– 3.13) and the incidence among newborns excluding fetuses was 0.9 per 10,000 (95% CI 0.81– 1.01). There was a statistically significant positive time trend in the dynamics of the overall incidence of omphalocele between 2011 and 2018. Conclusion. The evaluation of the incidence of severe malformation – omphalocele – was obtained in different regions of the Russian Federation for the first time. The incidence of this malformation tended to increase over the study period. Male gender and maternal age over 35 years can be considered as risk factors. These results can be used in planning preventive measures. Key words: congenital malformation, monitoring, newborns, omphalocele, fetuses, incidence, epidemiology

Risk factors for abdominal wall defects.

In the last decades, the prevalence of gastroschisis (GS) has increased worldwide. The purpose of this study was to identify maternal risk factors explaining the described gain and to identify differences between GS and omphalocele (OC). A case-control design was used to compare GS (n = 36) and OC (n = 18) mothers to control group (CG; n = 30) matched for maternal age. Specialized questionnaires and mothers' prenatal records were used, and participants completed a structured interview. Focus was on medical history, changing nutrition, drug consumption, and external risk factors. The local ethics committee approved this study. GS mothers were significantly younger (mean 23.00; median 24; SD ±5) than OC (P = 0.007; mean 28.61; median 28, 19-41; SD ±5.1) and CG (P = 0.001; mean 30.77; median 31, SD ±6.2). Mothers with abdominal wall defects (AWD) ingested antibiotics more often (P = 0.008) than CG. Socioeconomic characteristics, for example, level of profession, of GS mothers was significantly lower than OC (P = 0.039) and CG (P = 0.05) mothers, and their cohabitation time was shorter (P < 0.05; mean 35 month/median 24 month, SD ±35.8). Incidence of OC significantly increased after hormonal treatment (P = 0.022) and invasive prenatal diagnostics (P < 0.05) compared to GS. GS mothers took folic acid prophylaxis less often than OC (P = 0.02). Smoking, illicit drugs, and external risks like herbicides showed no influence, but GS mothers drink significantly more often alcohol (P = 0.05). We confirmed an increased risk for GS if several factors such as young maternal age, short cohabitation time, and usage of antibiotics coincide with alcohol consumption and associated immune diseases. OC increased after hormonal treatment and invasive prenatal diagnostics.

Is omphalocele a non-specific malformation in New Zealand White rabbits?

We evaluated the incidence of omphalocele, a malformation that occurs sporadically in many studies. We assembled data on external malformations using all treatment groups from every study published in three major journals over the past 35 years using New Zealand White rabbits. Fifty-eight papers were included: 4905 litters and 36,977 fetuses. Omphalocele was reported in 43% and was among the most common defects, occurring at a rate of 1.10% (litter) and 0.16% (fetus). The defect did not appear to be treatment-related, although it may have been in two studies, based on rate and dose-responsiveness. Removing these two studies from the analysis, the defect was still prevalent (0.77% litter, 0.11% fetal incidence). Three studies evaluated the effects of food restriction and omphalocele was observed with food restriction in two of them, suggesting that decreased maternal weight gain or food consumption may be causal. Otherwise, it appears to be spontaneous and common.

Role of ultrasound in diagnosis of fetal congenital abdominal anomalies: One year prospective study

Introduction: Congenital anomalies are important cause of perinatal and infant mortality, and are contributor to childhood morbidity. Fetal congenital abdominal anomalies are one of the most common anomalies. Ultrasound screening of fetus helps to identify these anomalies as early as possible in antenatal period and thus provides information for proper decisions during pregnancy. Aim: To find out the incidence of congenital abdominal anomalies affecting fetus and to study the outcome in patients with fetal congenital abdominal anomalies by following them postnatally. Material and Methods: Prospective, Observational and Non-interventional study. Ultrasound screening of 5761 fetuses were performed. Pregnancies, with ultrasound findings of fetal congenital abdominal anomalies with or without other associated anomalies, were followed up. Postnatal confirmation of anomalies were carried out by clinical examination/ imaging procedures / autopsy. Results: Incidence of fetal congenital abdominal anomalies was 5.56 per 1000 births. Among the fetal congenital abdominal anomalies, fetal urinary tract anomalies were the most common with an incidence of 4.69 per 1000 births. Incidence of Omphalocele, Gastroschisis and Jejunoileal atresia were 5.2, 1.7 and 1.7 per 10,000 births respectively. Concordance between antenatal and postnatal diagnosis was 90.63%. Conclusion: Antenatal ultrasound examination should be performed for all pregnant women to diagnose congenital anomalies. Prenatal diagnosis of congenital anomalies provides information for proper decisions during pregnancy, fetal intervention if available and appropriate treatment perinatally, thus improves perinatal and long term outcomes.

Congenital omphalocele and cleft palate in two fetuses

An omphalocele is described as a midline defect in the anterior abdominal wall through which abdominal viscera herniates into the base of the umbilical cord. The birth prevalence of omphalocele has been reported to be 1.2 to 2.7 per 10 000 live births (Marshall et al. 2015). Omphalocele occurs either as an isolated malformation or in association with other defects. However, co-occurrence of omphalocele and cleft palate has been previously described only once in the literature (Czeizel 1983). We herein report two unrelated fetuses born to non-consanguineous parents with omphalocele and cleft palate reinforcing the existence of omphalocele-cleft palate syndrome. Two primigravida were referred at about 12 weeks of gestation with antenatal ultrasound showing an abdominal wall defect. Both were in a non-consanguineous marriage and no significant family history was noted. Ultrasonography in case 1 disclosed herniation of abdominal contents, liver and stomach bubble outside the abdominal wall suggestive of omphalocele (Fig. 1b) and in case 2 showed the presence of omphalocele containing intestinal loops covered with a membrane. The umbilical cord was seen attached on the top of the sac in both cases. The couples opted for medical termination of pregnancy after counseling. A detailed autopsy was carried out for both fetuses. The study has approval of institutional ethics committee. Case 1 was a male fetus and on external examination showed retrognathia (Fig. 1a) and cleft soft palate with cleft uvula (Fig. 1c). Omphalocele (Fig. 1a) with liver, stomach, spleen, pancreas, small intestine and part of the large intestine as its contents was seen. Radiographs and karyotype of the fetus were normal. Case 2, also a male fetus was aborted at about 15 weeks of gestation. Examination showed unilateral cleft lip (Fig. 1e) on right side and complete cleft palate (Fig. 1f). Omphalocele was noted with bowel loops (part of jejunum, ileum and colon) as its contents (Fig. 1d). There was bilateral congenital talipes equinovarus (Fig. 1d) in the fetus. Radiographs of the fetus were normal. Fetal karyotype could not be obtained. However, karyotypes of the parents were normal. Association of omphalocele with cleft palate has previously been reported as omphalocele-cleft palate syndrome, lethal (OMIM 258320) in three siblings of normal unrelated parents (Czeizel 1983). One of the siblings had omphalocele, posterior cleft palate and uterus bicornuatus; the second had omphalocele, cleft uvula and hydrocephalus and the third had omphalocele and cleft palate. They died at the age of 2 months, 4 months and at 1 year, respectively. Chromosomal abnormalities in antenatally detected cases of omphalocele vary from 22% in isolated cases to more than 80% in the presence of associated abnormalities (De Veciana et al. 1994). Abnormal chromosomes mainly trisomy 13 and trisomy 18 have been observed in 20% to 50% of cases of omphalocele (Havalad et al. 1979). The various known syndromes with omphalocele and cleft palate include Beckwith-Wiedemann syndrome, thoracoabdominal syndrome (Pentalogy of Cantrell), otopalatodigital syndrome, hydrolethalus syndrome and Pallister-Killian syndrome. It has also been infrequently described in cases of midline defects like holoprosencephaly. Few mechanisms have been elucidated recently that provide a likely explanation for the co-occurrence of omphalocele and cleft palate. Dysregulation Hedgehog (Hh) signaling pathway is known to cause digital, urogenital, brain and craniofacial anomalies including cleft palate. Recently, the involvement of ectopic SHH signaling in ventral body wall malformation has been demonstrated in mouse mutants (Matsumaru et al. 2011). Another evidence for co-occurrence of these two malformations comes from a recent GAD65/GAD67 double knockout mouse model (Kakizaki et al. 2015). It has been shown that double knockout mice for glutamate decarboxylase (GAD65 and GAD67), the GABA-synthesizing enzymes, and their transporter, vesicular GABA transporter (VGAT) has almost 100% incidence of omphalocele and cleft palate, suggesting that GABAergic transmission is involved in palate and abdominal wall formation. Mutational analysis for these genes could not be done in both fetuses due to non-availability of preserved tissue. Reports of the above two cases of co-occurrence of omphalocele and cleft palate raise the possibility of a new syndrome. However, further delineation of cases and unraveling of the genetic basis is warranted for this disorder. The authors are grateful to the patients for consenting to participate in the study. The work was supported by a grant from Indian Council of Medical Research (BMS No. 54/5/2010). None

An epidemiological study on omphalocele in China during 1996 to 2000

To understand the trend of incidence of omphalocele and its epidemiological characteristics in China during 1996 to 2000. Surveillance data of omphalocele were collected from 460 hospitals at county level or above county level, involving all births with 28-week gestation to 7 days after delivery, including live births, fetal deaths and stillbirths in 31 provinces, autonomous regions and municipalities all over the country during 1996 to 2000. Overall incidence of omphalocele in China was 1.52 per 10 000 live births, with an increasing trend during 1996 to 2000. Incidence of omphalocele was 1.40 per 10 000 and 1.83 per 10 000 in the rural and urban areas, respectively, with a statistically significant difference (P < 0.05), and 1.54 per 10 000 and 1.41 per 10 000 in boys and girls, respectively. Babies of omphalocele associated with other malformation accounted for 30.77% of the total cases. Perinatal fatality rate of omphalocele was 51.18%, with prenatal diagnostic rate of 31.07%. Prevalence of omphalocele appeared an increasing trend in China during the period from 1996 to 2000. Occurrence of omphalocele was more frequent in rural areas than that in urban areas. Perinatal fatality rate in babies with omphalocele was higher and fatality of associated omphalocele was higher than that of simple one. It is suggested that management of perinatal care and level of prenatal diagnosis for omphalocele should be improved.

Changing profile of abdominal wall defects in Japan: Results of a national survey

Background/Purpose: The incidence of gastroschisis has increased over the past 3 decades in a number of countries. To elucidate the Japanese status of anterior abdominal wall defects, the Japanese Society of Pediatric Surgeons conducted a national survey in Japan. Methods: Information was obtained by sending out a questionnaire to 192 University Hospitals, Children's hospitals, and general hospitals that each had more than 200 beds. The characteristics of the patients including the birth date, birth weight, gestations, rate of associated anomalies, rate of antenatal diagnosis and prognosis, maternal age, gravidity, history of smoking, and drug use were analyzed. Results: The authors obtained answers from 149 institutions, including 1,785 cases of omphalocele and 970 cases of gastroschisis, which were treated between 1975 to 1997. There was a significant increase in the incidence of gastroschisis, from 0.131 in 1975 to 1980, 0.269 in 1981 to 1985, 0.337 in 1986 to 1990, 0.461 in 1991 to 1995 to 0.467 per 10,000 births in 1996 to 1997. The incidence of omphalocele was 0.322 in 1975 to 1980, 0.567 in 1981 to 1985, 0.657 in 1986 to 1990, 0.741 in 1991 to 1995 to 0.626 per 10,000 births in 1996 to 1997, respectively. In the omphalocele group, 43.1% of the mothers were between 25 to 29 years of age, whereas in the gastroschisis group 42.6% of the mothers were 20 to 24 years of age. In the gastroschisis group, the number of primipara mothers was larger than that of multipara mothers. In the omphalocele group, approximately 10% of the mothers smoked during each period, whereas in the gastroschisis group, the percentage of smoking mothers increased chronologically from 12.9% in 1981 to 1985, 18.7% in 1986 to 1990, 23.5% in 1991 to 1995 and 29.3% in 1996 to 1997. A history of drug use by the mother was approximately 10% for both the omphalocele and gastroschisis groups. In the omphalocele group, 55.9% had associated anomalies against 21.8% in the gastroschisis group. Approximately 10% in the omphalocele group and less than 3% in the gastroschisis group showed chromosomal abnormalities. From 1986, a significant number of cases detected antenatally has been observed. Conclusions: There have been substantial changes in the incidence of anterior abdominal wall defects, particularly regarding gastroschisis in Japan. The reasons for such changes are most likely multifactorial, further epidemiological monitoring is thus called for. J Pediatr Surg 35:66-72. Copyright © 2000 by W.B. Saunders Company.

Changing Profile of Abdominal Wall Defects in Japan: Results of a National Survey

The incidence of gastroschisis has increased over the past 3 decades in a number of countries. To elucidate the Japanese status of anterior abdominal wall defects, the Japanese Society of Pediatric Surgeons conducted a national survey in Japan. Information was obtained by sending out a questionnaire to 192 University Hospitals, Children's hospitals, and general hospitals that each had more than 200 beds. The characteristics of the patients including the birth date, birth weight, gestations, rate of associated anomalies, rate of antenatal diagnosis and prognosis, maternal age, gravidity, history of smoking, and drug use were analyzed. The authors obtained answers from 149 institutions, including 1,785 cases of omphalocele and 970 cases of gastroschisis, which were treated between 1975 to 1997. There was a significant increase in the incidence of gastroschisis, from 0.131 in 1975 to 1980, 0.269 in 1981 to 1985, 0.337 in 1986 to 1990, 0.461 in 1991 to 1995 to 0.467 per 10,000 births in 1996 to 1997. The incidence of omphalocele was 0.322 in 1975 to 1980, 0.567 in 1981 to 1985, 0.657 in 1986 to 1990, 0.741 in 1991 to 1995 to 0.626 per 10,000 births in 1996 to 1997, respectively. In the omphalocele group, 43.1% of the mothers were between 25 to 29 years of age, whereas in the gastroschisis group 42.6% of the mothers were 20 to 24 years of age. In the gastroschisis group, the number of primipara mothers was larger than that of multipara mothers. In the omphalocele group, approximately 10% of the mothers smoked during each period, whereas in the gastroschisis group, the percentage of smoking mothers increased chronologically from 12.9% in 1981 to 1985, 18.7% in 1986 to 1990, 23.5% in 1991 to 1995 and 29.3% in 1996 to 1997. A history of drug use by the mother was approximately 10% for both the omphalocele and gastroschisis groups. In the omphalocele group, 55.9% had associated anomalies against 21.8% in the gastroschisis group. Approximately 10% in the omphalocele group and less than 3% in the gastroschisis group showed chromosomal abnormalities. From 1986, a significant number of cases detected antenatally has been observed. There have been substantial changes in the incidence of anterior abdominal wall defects, particularly regarding gastroschisis in Japan. The reasons for such changes are most likely multifactorial, further epidemiological monitoring is thus called for.

Omphalocele and gastroschisis in Sweden 1965--1976.

The present investigation supports the view that omphalocele and gastroschisis are two different congenital malformations. They differ not only anatomically but also regarding the incidence of concomitant malformations, sex ratio and maternal age. There has been a significant increase in the incidence of gastroschisis in Sweden during the period 1965--1976 but no corresponding increase in the incidence of omphalocele. The incidence of abdominal wall defects in stillborn is twenty times higher than in liveborn children.