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Fetal omphalocele and gastroschisis: A review of 24 cases
Abstract
Fetal omphalocele and gastroschisis are congenital defects of the abdominal wall that require prompt surgical management at the time of delivery. To evaluate the role of prenatal sonography in identifying factors that influence prognosis, 24 cases of abdominal-wall defect (16 omphalocele, eight gastroschisis) were reviewed. Sonograms were evaluated for location of umbilical cord insertion, contents of the ventral defect, presence or absence of a covering membrane, fetal ascites, bowel-wall thickening, and coexisting anomalies. Sonographic differentiation between omphalocele and gastroschisis was possible in 18 (75%) of 24 cases. Eighteen patients had congenital defects in addition to the abdominal-wall defect. Associated abnormalities were present in 14 (88%) of 16 fetuses with omphalocele and four (50%) of eight with gastroschisis. Overall survival rate was 50%, excluding six terminated pregnancies. Survival rate was 33% for neonates with omphalocele and 83% for those with gastroschisis. The better prognosis for neonates with gastroschisis appears to reflect the lower frequency of associated congenital anomalies.
... Careful sonographic technique and interpretation is necessary for early diagnosis of omphalocele and usually allows this anomaly to be distinguished from gastroschisis, cloacal exstrophy, and omphalomesenteric anomaly. 1 Pseudoomphalocele 2 and normal bowel migration 3 may be especially difficult to differentiate from omphalocele in the first trimester of pregnancy; however, dose attention to the size, shape, and echogenicity of the herniated mass often permits accurate diagnosis. The sonographic demonstration of omphalocele has been reported as early as the 13th week of menstrual age. ...
... Omphalocele is a congenital midline defect in the ante• rior abdominal wall resulting either from failure of the lateral abdominal folds to fuse, 67 or from persistence of the body stalk. 2 The eviscerated· abdominal contents are contained within a translucent hernia sac composed of parietal peritoneum, amniotic membrane, and Wharton's jelly. 1 This hernia usually contains liver and small bowel. Less frequently found in the omphalocele sac are colon, omentum, spleen, pancreas, . ...
... The herniated bowel loops are often thickened and matted with a cystic cauliflower appearance. 1 Conversely, insertion of the cord into a midline hernia sac, the presence of a covering membrane, ascites, ectopia cordis, and herniated liver are strong evidence of omphalocele. 1 Cloacal exstrophy is a rare anomaly in which an anterior abdominal wall defect is associated with exstrophy, spinal abnormalities, and imperforate anus. n Beckwith-Wiedemann syndrome is frequently associated with omphalocele. ...
We believe that a distinction between omphalocele and normal bowel migration is possible if certain criteria are met. Omphalocele is likely if the mass is large, being equal to or greater than the abdominal diameter (usually greater than 10 mm); and if the herniated mass has the uniform echogenicity of fetal liver, rather than the heterogenous, highly echogenic appearance of bowel. Conversely, if the herniated mass is small (less than 10 mm) and echogenic, then normal bowel migration is favored. Large umbilical hernias and small or atypical omphaloceles may be difficult to diagnose. Under these circumstances, and in all equivocal cases, a follow-up exam after 14 weeks should be done to confirm the diagnosis.
... The small bowel always eviscerates through the defect and is, by definition, non-rotated and lacking secondary fixation to the posterior abdominal wall [7]. The loops of bowel are never covered by a membrane; hence, they are directly exposed to the amniotic fluid [2,8,9,10]. ...
... The male, weighing 2000 gm, born dead (stillbirth) with abig defect (about 3x4 cm) on the right para-umbilical area with the liver, stomach, small & large bowel herniated outside his body, distorted spine with big sacrococcygeal swelling shown by the prenatal ultrasound as spina bifida & meningocele and abnormal right knee with the leg & foot rotated upward in addition to congenital heart disease (Figs.[7][8][9] ...
Back Ground: Both Sirenomelia & Gastroschisis are very rare congenital anomalies & it is
extremely rare to find each of the two anomalies in both twins of one pregnancy, here we reported
the two anomalies in one twin pregnancy.
Case Report: We reported twin pregnancy in G3p0A2 19 years old healthy woman who had
irregular antenatal visits, ultrasound exam done 4 times during pregnancy, all shown
monochorionic, diamniotic twins with polyhydromnia & Gastroschisis, abnormal spine and
sacrococcygeal teratoma in the 1st twin and oligohydromnia in the 2nd twin in which the anomaly
was not clear & later on the baby born with Sirenomelia.
In all the references we reviewed we cauldn't find the two anomalies in one twin pregnancy and this
case was considered to be the 1st reported case globally
... Gastroschisis is not usually associated with chromosomal abnormalities, although in a series of 24 cases of fetuses with abdominal wall defect (16 were omphalocele and 8 gastroschisis), 50% of the fetuses with gastroschisis showed this association. 80,81,82,83,84,85,86,87,88,89 Gastroschisis is de ned by the presence of a "bulky" structure at the right side of the umbilical cord that is not covered by a membrane, Lower urinary tract obstruction (LUTO), with an estimated incidence of 0.06%, 92 can be identi ed once fetal urine is being produced from 10 weeks' gestation onwards. 93 The prenatal ultrasound diagnosis is usually based on a bladder diameter >7 mm and >12 mm in severe cases. ...
The early first trimester, from 5 to 11 week's gestation is investigated. A step-by-step comparison is made between embryonic development according to the Carnegie stages and ultrasound imaging. High-quality early embryonic-fetal imaging is provided together with anatomical detials obtained from CT-scan reconstruction of human embryos.
... live births, respectively. [1,2] The differentiation of gastroschisis from other anterior abdominal wall defects such as omphalocele, body stalk anomaly, bladder, and cloacal exstrophy, and pentalogy of Cantrell is made by prenatal imaging. Evaluation of the defect is critical in the differentiation of these anomalies. ...
... Patients with small omphalocele have fewer cardiac defects, which may explain their better prognosis as severe cardiac defects portend poorer prognosis. The size of the defect has also been reported to determine the outcome with mortality rate of 25% in infants with omphalocele major [22]. Prognosis is described favorable for infants with isolated small omphalocele and no associated structural and chromosomal anomalies [23]. ...
... Patients with small omphalocele have fewer cardiac defects, which may explain their better prognosis as severe cardiac defects portend poorer prognosis. The size of the defect has also been reported to determine the outcome with mortality rate of 25% in infants with omphalocele major [22]. Prognosis is described favorable for infants with isolated small omphalocele and no associated structural and chromosomal anomalies [23]. ...
... Gastroschisis associated with herniation of major viscus makes the prognosis worst. The size of the defect or the length between the diagnosis and the delivery does not influence the prognosis; thus early delivery does not appear an indication (7) . It is more common in younger mothers. ...
... These fetuses seem to get the most benefit from early prenatal diagnosis since they can be prospectively followed for intrauterine growth restriction and obstruction of gastrointestinal tract, as well delivery in a tertiary care center with an available pediatric surgeon. The size of the defect or the length between the diagnosis and the delivery does not influence the prognosis; thus early delivery does not appear indicated unless there is severe fetal growth restriction or other complications.10 ...
Abdominal wall defects occur when the normal sequence of the gastro intestinal tract development is interrupted. Gastroschisis represents a herniation of abdominal contents through a paramedian full-thickness abdominal wall fusion defect without involving the umbilical cord. Evisceration usually only contains intestinal loops and has no surrounding membrane unlike omphalocoele. It is unusual for a newborn with gastroschisis to have other serious birth defects. Neonates with gastroschisis have better prognosis than those with omphalocele. Very rarely is gastroschisis associated with herniation of other organs, and their presence makes the prognosis worse.
I report three cases of unusual anterior abdominal wall defects during the year 2010, each having specific associated abnormalities. One was stillborn, and the other two died shortly after delivery.
... Interest in gastroschisis and its management has increased yearly since 1960, as also reflected in the increasing number of publications in the literature over the last 48 years (Fig. 1). Concurrent with or as a result of work in this area, outcomes have gradually improved, from survival rates of 10% to 20% (range) in the early 1960s to greater than 90% today (Fig. 2) [Bryant et al., 1970;Mahour et al., 1973;Fraser et al., 1976;Aaronson and Eckstein, 1977;Brown et al., 1978;Mabogunje and Mahour, 1984;Bair et al., 1986;Swartz et al., 1986b;Chang et al., 1992;Becmeur et al., 1995;Tunell et al., 1995;Luton et al., 1997;Snyder, 1999;Kitchanan et al., 2000;Molik et al., 2001;Sydorak et al., 2002;Baerg et al., 2003;Brantberg et al., 2004;Eggink et al., 2006;Fratelli et al., 2007;Jager and Heij, 2007;Robbins et al., 2007;Santiago-Munoz et al., 2007;Vachharajani et al., 2007]. However, in spite of the many advances, the management of gastroschisis is still evolving. ...
Gastroschisis is one of the most challenging congenital anomalies that physicians treat in the first 2 months of life. Over the last 40 years, tremendous progress has been made in the management of this defect. Survival has increased significantly during this period as well. However, gastroschisis still presents the clinician with a unique set of challenges as a result of secondary effects on intestinal development. These challenges or clinical considerations are discussed in this review including a history of the management of the defect, prenatal counseling, prenatal intervention, postnatal and surgical management, complications and long-term outcomes.
... If these entities can be determined, then the correct diagnosis of omphalocele as opposed to other abdominal wall defects approaches 75%. 5 A high degree ofliver herniation and presence of fetal liver within the sac are indicators of poor prognosis for successful surgical correction. ...
Omphalocele and gastroschisis involve protrusion of intestine through a defect in the abdominal wall. It is important to differentiate between the two because of a difference in the incidence of associated anomalies and of chromosomal abnormalities. The distinguishing characteristics are the location of umbilical cord insertion, the echogenicity of the contents of the protruding mass and, usually, the presence or absence of a sac surrounding the mass. Early detection is critical so that decisions can be made about the possibility of surgical correction and the outcome of the pregnancy. We describe an omphalocele detected by ultrasonography in the 20th week of gestation during a routine prenatal check-up.
Prenatal sonographt is an useful modality in evaluation of fetal gastrointestinal abnormalities. The sonographic appearance of a healthy fetus's gastrointestinal tract is variable and there are considerable similarities between the normal and abnormal gastrointestinal findings. Therefore one should be a ware of diagnostic pitfalls which may arise from confusion with normal anatomy. In this review the normal anatomy, anatomic variations, pathologies and potential diagnostic pitfalls of the normal and abnormal fetal gastrointestinal system are examined.
Resumen
El diagnóstico prenatal de la patología abdominal fetal se basa en la exploración ecográfica. El principal signo clínico de alarma es el exceso de líquido amniótico o hidramnios. En los casos de patología abdominal fetal, la evolución prenatal y los riesgos fetales son todavía poco conocidos, y el traslado materno a un hospital adecuado para el tratamiento posnatal es una práctica generalizada. Algunas patologías se asocian con frecuencia a anomalías cromosómicas, lo que hace que su pronóstico sea reservado. Además, hay que tener cuidado con las formas sindrómicas y genéticas, que pueden cambiar el pronóstico y la estrategia terapéutica de forma radical. En estas condiciones, la evaluación prenatal es esencial en este tipo de patología; incluye la ecografía, muy a menudo obtención de muestras para pruebas de laboratorio (líquido amniótico, etc.) y más raramente una resonancia magnética. Cada caso debe ser objeto de una síntesis multidisciplinaria en un centro de diagnóstico prenatal que reúna a todos los especialistas implicados (obstetras, ecografistas, cirujanos pediátricos, genetistas, etc.). El diagnóstico prenatal de algunas patologías, en particular la laparosquisis, ha transformado su pronóstico de forma radical al permitir un tratamiento adecuado. En el futuro, será necesario mejorar la precisión y la fiabilidad del diagnóstico prenatal de las patologías abdominales para esperar ofrecer la posibilidad de un tratamiento in utero.
Large offspring syndrome (LOS) is a fetal overgrowth condition in bovines most often observed in offspring conceived with the use of assisted reproductive technologies (ART). Phenotypes observed in LOS include, overgrowth, enlarged tongues, umbilical hernias, muscle and skeleton malformations, abnormal organ growth and placental development. Although LOS cases have only been reported to be associated with ART, fetal overgrowth can occur spontaneously in cattle (S-LOS). S-LOS refers to oversized calves that are born at normal gestation lengths. ART-induced LOS has been characterized as an epigenetic syndrome, more specifically, a loss-of-imprinting condition. We propose that S-LOS is also a loss-of-imprinting condition.
Background
Gastroschisis has been assumed to have a low rate of syndromic and primary malformations. We aimed to systematically review and explore the frequency and type of malformations/chromosomal syndromes and to identify significant biological/genetic roles in gastroschisis. Methods
Population-based, gastroschisis-associated anomalies/chromosomal defects published 1950–2018 (PubMed/MEDLINE) were independently searched by two reviewers. Associated anomalies/chromosomal defects and selected clinical characteristics were subdivided and pooled by race, system/region, isolated, and associated cases (descriptive analysis and chi-square test were performed). Critical regions/genes from representative chromosomal syndromes including an enrichment analysis using Gene Ontology Consortium/Panther Classification System databases were explored. Fisher’s exact test with False Discovery Rate multiple test correction was performed. ResultsSixty-eight articles and 18525 cases as a base were identified (prevalence of 17.9 and 3% for associated anomalies/chromosomal defects, respectively). There were 3596 associated anomalies, prevailing those cardiovascular (23.3%) and digestive (20.3%). Co-occurring anomalies were associated with male, female, American Indian, Caucasian, prenatally diagnosed, chromosomal defects, and mortality (P < 0.00001). Gene clusters on 21q22.11 and 21q22.3 (KRTAP), 18q21.33 (SERPINB), 18q22.1 (CDH7, CDH19), 13q12.3 (FLT1), 13q22.1 (KLF5), 13q22.3 (EDNRB), and 13q34 (COL4A1, COL4A2, F7, F10) were significantly related to biological processes: blood pressure regulation and/or vessel integrity, angiogenesis, coagulation, cell–cell and/or cell-matrix adhesion, dermis integrity, and wound healing (P < 0.05). Conclusions
Our findings suggest that gastroschisis may result from the interaction of several chromosomal regions in an additive manner as a pool of candidate genes were identified from critical regions supporting a role for vascular disruption, thrombosis, and mesodermal deficiency in the pathogenesis of gastroschisis.
Gastroschisis (Greek for belly cleft) is a congenital paraumbilical wall defect characterized by the protrusion of the intestines uncovered by the peritoneum. It represents one of the most common congenital malformations requiring multidisciplinary neonatal intensive care, with an incidence of approximately 1 in 3300 births that seems to be increasing (Alvarez and Burd 2007).
The detection and categorization of abdominal wall defects by sonographic examination are challenging problems. A correct diagnosis is mandatory because of its impact on fetal intervention, parental counseling and optimal perinatal management.
Gastroschisis and omphalocele are the most common abdominal wall anomalies. Diaphragmatic haernia represent a conflictive intrauterine diagnosis. All together imply the most important drawback in the management of these pathologies.
Many birth defects, although rare individually, are encountered in clinical practice and have now become treatable if properly diagnosed. In the Atlas of Genetic Diagnosis and Counseling, Harold Chen, MD, shares his almost 40 years of clinical genetics practice in a comprehensive pictorial atlas of 203 genetic disorders, malformations, and malformation syndromes. The author provides a detailed outline for each disorder, describing its genetics, basic defects, clinical features, diagnostic tests, and counseling issues, including recurrence risk, prenatal diagnosis, and management. Numerous color photographs of prenatal ultrasounds, imagings, cytogenetics, and postmortem findings illustrate the clinical features of patients at different ages, patients with varying degrees of severity, and the optimal diagnostic strategies. The disorders cited are supplemented by case histories and diagnostic confirmation by cytogenetics, biochemical, and molecular techniques, when available. Also available in a CD-ROM edition (ISBN: 1-58829-974-5).
Authoritative and up-to-date, the Atlas of Genetic Diagnosis and Counseling will help all physicians to understand and recognize genetic diseases and malformation syndromes, and consequently better evaluate, counsel, and manage affected patients.
Around the 30th week of gestation, patients with gastroschisis (GS) develop chronic inflammatory reactions on the serosal surface of the eventrated loops of intestine that lead to severe hyperfibrinogenemia and hypercoagulability, particularly if they are born prematurely. This result was found on comparison of coagulation studies from 12 patients with GS with those of 4 patients with omphalocele and of healthy premature babies and term infants. Furthermore, the patients with GS showed marked hypogammaglobulinemia, which might also be responsible for the increased numbers of infections complicating the course of this disease. The hypercoagulability increases the risk of thromboembolic complications and disseminated intravascular coagulation, particularly in combination with the surgical closure of the abdominal wall that is undertaken postnatally or with perinatal complications such as asphyxia. Prophylactic therapy with low-dose heparin is indicated.
Lo studio ecografico degli organi intra-addominali fetali si esegue mediante scansioni trasverse dell’addome muovendo la sonda
dalla porzione più craniale a quella più caudale e viceversa. L’apparato digerente fetale deve essere studiato valutando il
situs, visualizzando lo stomaco, la colecisti, il fegato, la milza e l’intestino.
Ultrasound is an important tool in the evaluation of fetal development and detection of fetal abnormalities. The ability to detect abnormalities in utero can help improve perinatal care; therefore, a detailed sonographic examination of the fetus should always be obtained. Abdominal wall defects that can be recognized by sonography include omphalocele, gastroschisis, umbilical cord hernia, and limb/body wall complex. The sonographer should attempt to give a detailed description of the defect including the organs involved, the presence of a sac, the site of cord insertion, and the presence of any associated anomalies. This information can aid the physician and parents in determining the course of management of the pregnancy.
Abstract Ventral wall defects are extremely rare anomalies that are likely caused by the failure of lateral body folds during week four of development. We report a case of severe thoracoabdominal wall defect including complete thoracic ectopia cordis and gastroschisis. This combination represents a novel constellation of findings in a single patient. This unique case further demonstrates an anatomically normal heart with age-appropriate development and an intact diaphragm. We review the literature of other reports and discussions of entities that share overlapping features with this case.
A routine pregnancy ultrasound examination of a 30-yr-old, multiparous, common bottlenose dolphin, Tursiops truncatus, detected an approximately 16-wk (gestational age) fetus with an omphalocele, an abdominal wall defect at the base of the umbilical cord. Throughout the pregnancy, ultrasound allowed for identification of the omphalocele contents, which included a portion of the liver and intestinal loops. The maximum diameter of the omphalocele was 11.4 cm at an estimated 51-wk gestation. Color Doppler was utilized to study the blood flow within the omphalocele as well as diagnose an associated anomaly of the umbilical cord, which contained three vessels instead of four. Gross necropsy and histopathology confirmed the ultrasound diagnoses. This is the first report of an omphalocele in a T. truncatus fetus, and the first report of a fetal and umbilical cord anomaly diagnosed with ultrasound in a cetacean.
On the basis of clinical manifestations, epidemiologic characteristics, and the presence of additional malformations, omphalocele (OM) and gastroschisis (GA) are considered causally and pathogenetically distinct abdominal wall defects. More than 50% of infants with OM have additional defects, but only about 15% of those with GA do. To evaluate whether there is heterogeneity between isolated and multiply affected cases of OM and GA, we analyzed epidemiologic characteristics and familial risks of major defects for 82 OM and 81 GA cases drawn from a population-based study in the Maryland-Washington, DC-Northern Virginia area and born from 1980 through June 1987. We examined year of birth, sex, race, and maternal age distributions after stratifying the infants into isolated and multiple defect groups. We found significant differences in maternal age between cases with isolated OM and GA, but not between cases with GA or OM who had other defects. Using regressive logistic models, we analyzed familial aggregation of birth defects among relatives of infants with OM and GA. An autosomal recessive model of inheritance was found to be the most parsimonious explanation for the families of infants with isolated OM or GA. However, for families of infants with multiple defects, a sporadic or nongenetic model fit best. These findings are not only useful for estimating familial risk of major birth defects, but they also suggest further heterogeneity of infants with OM and GA according to the presence of other malformations. © 1992 Wiley-Liss, Inc.
To evaluate the perinatal morbidity and mortality of fetuses diagnosed with gastroschisis at our Fetal Diagnosis and Treatment Center.
A retrospective review of a regional prenatal diagnostic center. Twenty-nine cases of gastroschisis which were diagnosed, managed, delivered and had corrective surgeries through the Fetal Diagnosis and Treatment Center were identified from 1985 to 1994. Perinatal morbidity and mortality were reviewed. Antepartum testing schemes were reviewed when available to determine whether morbidity or mortality could have potentially been prevented.
Meconium occurrence, intrauterine growth retardation (IUGR) and oligohydramnios complicated 79%, 41% and 36% of the cases, respectively. The perinatal mortality of this series was 241/1000. Significant differences in perinatal mortality were noted when fetal testing was incorporated (200/1000 vs. 286/1000, P < or = 0.001).
Gastroschisis is associated with a high incidence of IUGR, meconium, oligohydramnios and high perinatal mortality. Antenatal testing appears to significantly lower perinatal mortality in pregnancies complicated by gastroschisis.
Liver herniation is a rare occurrence in gastroschisis. We sought to determine the incidence and prognosis of liver herniation in patients with gastroschisis.
From December 1995 to March 2010, 117 patients with gastroschisis received care by our division. Operative reports were reviewed to identify patients with liver herniation. Logistic regression was used to determine the impact of liver herniation on survival, taking into account gestational age and birth weight.
The incidence of liver herniation was 6%. Survival rates were 43% with liver herniation and 97% without liver herniation. Liver herniation was associated with a significantly higher rate of mortality, taking into account estimated gestational age and birth weight (P < .001). Patients who had liver herniation documented by prenatal ultrasound had significant liver herniation at birth and died postnatally. Patients with liver herniation who died required large silos and were noted to have comorbidities including lower birth weight, pulmonary hypoplasia, and sepsis. Biologic patches were necessary for closure in patients with greater extent of liver herniation.
Liver herniation was found in 6% of patients with gastroschisis and was associated with a high rate of mortality. Liver herniation appears to be a risk factor for poor outcome in gastroschisis. Documentation of liver herniation may be helpful in prenatal consultation for gastroschisis.
Gastroschisis represents a herniation of abdominal contents through a paramedian full-thickness abdominal fusion defect without involving the umbilical cord. Evisceration usually only contains intestinal loops and has no surrounding membrane unlike in ophalocoele. It is unusual for a newborn born with gastroschisis to have other serious birth defects and neonates have better prognosis than those with an omphalocele. Very rarely gastroschisis is associated with herniation of major viscus and their presence makes the prognosis worst. This case is reported because of its rare association with extra-corporal liver and limb aplasia.
We report a case of a fetal omphalocele in which the internal structure of the hernia sac was imaged in detail by magnetic resonance (MR) imaging. The hernia sac consisted of amnion, Wharton jelly, and externally, peritoneum. The umbilical vascular channels (2 arteries, one vein) were surrounded by Wharton jelly. Use of MR imaging facilitates a more accurate evaluation of fetal omphalocele with regard to hernial sac, intestinal structure, and differential diagnosis.
Omphalocele is often associated with the presence of other congenital anomalies. Case reports have demonstrated nonclassical associations occurring in smaller omphaloceles. The aim of this study was to determine if omphalocele defect size correlates with the type of anomalies found.
Patient records at a pediatric hospital were retrospectively reviewed for an 8-year period. Data were collected on patient demographics, omphalocele size, and congenital anomalies identified. Size of the abdominal wall defect was determined by either physical examination or operative record of repair. Patient cohorts were designated as those with small (4 cm and less) or large (greater than 4 cm) omphaloceles.
Fifty-three cases of omphalocele were observed. Twenty-seven cases were classified as small, with 26 classified as large. A predominance of males was noted in the small omphalocele group (78% vs 42%; P = .01). Intestinal anomalies, including Meckel's diverticulum and intestinal atresia, were only seen in patients with small omphaloceles. Most cardiac anomalies were associated with large omphaloceles (34.6% vs 3.7%; P = .01).
Small omphalocele size correlates with an increased prevalence of associated gastrointestinal anomalies, a lower prevalence of cardiac anomalies, and a higher predominance of male sex.
To evaluate the observation that fetuses with omphaloceles containing only bowel have an especially high prevalence of karyotypic abnormalities, we retrospectively reviewed the sonograms and case records of 37 fetuses with omphaloceles detected sonographically between 1984 and 1990. Nine fetuses had concomitant morphologic abnormalities characteristic of the amniotic band syndrome. Of the remaining 28 fetuses, karyotypic correlation was available in 22, and the karyotype was abnormal in five of these (23%). The omphaloceles contained liver in 22 fetuses and only bowel in six fetuses. Among fetuses with exteriorized liver, karyotypes were abnormal in one (6%) of 16 tested. In contrast, four (67%) of the six fetuses whose omphaloceles contained only bowel had abnormal karyotypes; for each of these four, sonograms showed morphologic abnormalities in addition to the omphalocele. In the two fetuses with bowel-only omphaloceles and normal karyotypes, the omphalocele was the only abnormality seen on sonograms, and these children are well after surgical repair. When fetuses with the amniotic band syndrome were excluded, sonograms showed concomitant anomalies in 15 fetuses with liver-containing omphaloceles, and the karyotype was abnormal in only one of these 15. The results of this study support previous observations that karyotypic abnormalities are more common in association with omphaloceles that contain only bowel compared with those that contain only liver. If we combine our data with data from three other studies that address this issue, 87% of fetuses with omphaloceles containing only bowel had an abnormal karyotype, a significantly higher rate than in those fetuses whose omphaloceles contained liver also (9%).
A wide range of abnormalities of the fetal gastrointestinal tract is currently detectable by antenatal sonography, but the sonographic appearance of normal fetal bowel is variable, with considerable overlap between normal and abnormal patterns. In examining the major gastrointestinal disorders that may be recognized by in utero sonography, this article emphasizes potential pitfalls due to confusion with normal anatomic variants and pathologic processes arising elsewhere in the fetus.
Many disorders of the fetal thorax and abdomen can be evaluated using ultrasound. Even when a definitive diagnosis cannot be made prenatally, sonography can provide valuable clinical information regarding the nature and location of the abnormality, associated anomalies, and the presence of secondary complications. An awareness of these disorders and their sonographic appearance is important to impact upon obstetrical management and overall prognosis.
Documentation of early fetal developmental events has become possible with the use of high-resolution sonography. We report two cases of first trimester physiologic bowel herniation and contrast them with a first trimester diagnosis of omphalocele. The normal development of the fetal abdominal wall and the mechanisms proposed for pathogenesis of omphalocele are reviewed. The sonographic differentiation between physiologic herniation and pathologic ventral wall defects may be very subtle, making definitive first trimester diagnosis difficult.
The prenatal diagnosis and antepartum management of congenital diaphragmatic hernia and anterior abdominal wall defects are reviewed. In addition, the intrapartum and neonatal considerations and management strategies are discussed.
Twenty-six consecutive fetuses with a sonographically detectable omphalocele and known karyotype were reviewed to identify risk factors that might be associated with chromosomal abnormalities. Risk factors that were analyzed included contents of the omphalocele sac, maternal age, fetal sex, sonographically detectable concurrent anomalies, and any major concurrent anomaly. Chromosomal abnormalities were found in 10 cases (38%) from trisomy 18 (n = 4), trisomy 13 (n = 4), trisomy 21 (n = 1), or 45, X (n = 1). The absence of liver from the omphalocele sac (intracorporeal liver) was strongly associated with an abnormal karyotype; chromosomal abnormalities were present in all 8 fetuses with an intracorporeal liver compared to 2 of 18 fetuses with an extracorporeal liver (p less than .0001, two-tailed Fisher exact test). Other risk factors that were statistically associated with chromosomal abnormalities included advanced maternal age (greater than or equal to 33 years, p = .03) and sonographically detectable concurrent malformations (p = .05). We conclude that sonographic findings can help determine the relative risk of chromosomal abnormalities in fetuses with omphalocele; abnormal karyotypes were significantly associated with the absence of liver from the omphalocele sac and sonographically detectable concurrent malformations in this series. Sonographers should also be aware that omphaloceles that contain bowel alone tend to be small and can be missed or mistaken for other abdominal wall defects (gastroschisis or umbilical hernia).
The purpose of this paper is to establish a small-bowel follow-through (SBFT) protocol in postoperative gastroschisis patients. In 15 years, 19 SBFT examinations have been performed to diagnose or exclude obstruction in 61 gastroschisis patients. The average examination required 6.7 overhead films (range 3–15) and lasted 34 h (1–190 h). The diagnosis of intestinal obstruction was supported on SBFT in only 1 of 19 patients who underwent this examination. In the other 18, the examination showed no obstruction (13 patients) or was nonconclusive (5 patients).
The inherent dysmotility associated with gastroschisis can result in redundant overhead films being made during SFBT. We recommend that an SBFT examination in gastroschisis patients consist of (1) fluoro-evaluation of esophagus, stomach, and duodenum; (2a) if normal peristalsis is noted, then an overhead film at 30 min,or (2b), if altered peristalsis or little movement of contrast medium is noted on the 30-min overhead film, then an overhead film at 4 and 12 h. This is followed by overhead films every 24 h if required. This protocol can result in a decrease in patient radiation, department costs, and staff work load.
Prenatal sonography has the potential to show a wide range of abnormalities in a fetus's gastrointestinal tract. Suspected fetal gastrointestinal abnormalities should be interpreted with caution, however, as the sonographic appearance of a healthy fetus's gastrointestinal tract is variable and there is considerable overlap in the appearances of normal and abnormal fetal bowel. Similarly, pathologic processes originating from organ systems other than the gastrointestinal tract can at times exhibit sonographic patterns remarkably similar to those of dilated bowel. This review examines the sonographic findings of gastrointestinal disorders seen in utero, emphasizing potential diagnostic pitfalls arising from confusion with normal anatomy, anatomic variants, and pathologic processes elsewhere in the fetus.
The authors review data from the Congenital Malformation Registry in South East Thames regarding fetal abdominal wall defects. Over 24 months, 80 cases were observed (40 gastroschisis, 40 exomphalos). Live-born infants with gastroschisis had few associated anomalies and an excellent prognosis (83% survival rate). Exomphalos is associated with an increased rate of life-threatening anomalies and chromosomal defects. The latter cases often are terminated prenatally. If these cases are excluded, the 1-year survival rate for liveborn infants with exomphalos is favorable (close to 80%). Fetuses in whom gastroschisis and exomphalos are identified by ultrasonography but who have no associated life-threatening chromosomal anomalies should have a favorable prognosis.
A review of fetal gastrointestinal anomalies is presented. Normal abdominal development and anatomy, including basic embryology and recommended ultrasound techniques, are first outlined. Next is a more detailed discussion of the abnormal examination, including abdominal wall defects and intra-abdominal abnormalities. The goal of this work is to present a practical approach to the abnormal fetal abdominal examination enabling the sonographer and sonologist to suggest precise differential diagnoses.
To determine whether associated anatomic features may be useful in predicting fetal prognosis, 43 fetuses who had ultrasonographic evaluation for abdominal wall defects during a 13-year period were reviewed. Thirty-one fetuses had omphalocele and were classified into three groups according to fetal ultrasonography results: ruptured omphalocele with exposed liver, giant omphalocele with exposed liver, and small omphalocele without liver herniation. Twelve fetuses had gastroschisis. Ten of the 12 fetuses with gastroschisis survived; one died in utero. Nine of the 12 with a small omphalocele survived. Ten of 12 fetuses with giant omphalocele survived, but six of the seven with ruptured omphalocele died of pulmonary hypoplasia and respiratory insufficiency. Ruptured omphalocele recognized in utero was accompanied by intrauterine growth retardation and liver herniation and frequently was associated with deformity of the spine, diaphragmatic defects, vesicointestinal fissure, and meningocele. These results indicated that, together with the deformity of the spine, rupture and absence of the covering membrane with an exposed liver (noted through fetal ultrasonography) may suggest a poor prognosis because of pulmonary hypoplasia.
The accurate prenatal diagnosis of anterior abdominal wall defects is important because it affects patient management and prognosis. The pathophysiology of each defect leads to key characteristics that make it possible to differentiate one entity from another. Among these features are the location of the defect in relation to cord insertion, the size and contents of the defect, and the associated anomalies. This article reviews the underlying defects, the characteristic ultrasound findings, the associated anomalies, and the prognosis of simple and complicated abdominal wall defects. The basic features of simple abdominal wall defects (i.e., omphalocele and gastroschisis) were used as the initial points of assessment. A comparison of the different features of these abnormalities and how they differ from one another resulted in the development of criteria that facilitated the understanding of the different ultrasound manifestations of these anomalies.
Improvements in the diagnosis and treatment of congenital disorders have resulted in a change in surgical practice. Many conditions that formerly required corrective surgery immediately after birth are no longer surgical emergencies. Most babies with congenital anomalies that can be corrected by surgery are now stabilized and optimized before the procedure. This article focused on the more common conditions that require semi-elective or urgent surgery in the neonatal period. Salient features of each of these disorders were described. Factors unique to each of these conditions that can affect the anesthetic course of these children were discussed. Methods and techniques that may aid in the anesthetic management of these children were delineated.
The aim of this study was to follow up the 19 infants born in Tyrol province with abdominal wall defects between 1985 and 1996 whose malformation had been diagnosed prenatally, who were operated on immediately postpartum and who are alive today.
There were seven children in the omphalocele group and 12 in the gastroschisis group; 18 parents of affected infants took part in the study.
Four out of seven children with omphalocele had major associated malformations (two Beckwith-Wiedemann syndrome, one porencephalic cyst, one with skeletal defects). These children presented handicaps related to the associated malformations but not to the abdominal wall defect. The three other children with omphalocele are developing normally. Five out of 11 children with gastroschisis had associated intestinal but no extraintestinal malformations. After discharge, ten of 11 children with gastroschisis were developing normally; one child shows signs of mental retardation. Of 14 mothers who had originally planned another pregnancy prior to the birth of the malformed child, nine decided against becoming pregnant again; the others delayed a further pregnancy for several years.
In our group, associated malformations were the main factor affecting the long-term quality of life of children with omphalocele and gastroschisis. Although most of the children were developing normally, fear of a repetition of the malformation in a subsequent pregnancy dominated reproductive choices in all couples.
The embryology of the anterior abdominal wall and umbilical cord is presented at the start of this article. A chronologic explanation of the abnormal embryology and resulting anomalies is presented in tabular form. This method of presentation demonstrates the effect of the timing of abnormal development on the pathophysiology and severity of the lesion. Techniques involved in the prenatal diagnosis of these abnormalities are described st the beginning of the article. Each of the developmental anomalies of the abdominal wall is then reviewed, again in chronologic order of embryologic development. Anomalies of the umbilical cord are reviewed at the end of the article.
Four cases of fetal omphalocele diagnosed in utero by ultrasonography represent variations in the sonographic appearance of this rare anomaly. A possible pathogenesis of omphalocele is presented, with a discussion of the associated complications and the effect of diagnosing omphalocele prenatally on the management of the pregnancy itself. The association between fetal omphalocele and elevated alpha-fetoprotein is significant, and may prompt a search for a small omphalocele that would otherwise be missed on a routine obstetric sonogram. The differentiation of omphalocele from gastroschisis is difficult, yet the two anomalies can be reliably differentiated sonographically.
Although the survival for infants with abdominal wall defects (AWD) has dramatically improved, agreement on the optimum surgical approach has not been reached. From October 1970 through March 1983, 31 neonates with gastroschisis and 14 neonates with omphalocele were treated. Reduction of the herniated viscera with primary fascial and skin closure was performed in 30% of the gastroschisis patients and 64% of the omphalocele patients. The remaining infants were managed by staged reduction of the herniated viscera using a Silastic sac. Overall, 27 of 45 patients (60%) were treated by staged reduction. Our procedure for staged reduction includes application of a Silastic sac as soon as the infant is stable. The herniated contents are reduced as rapidly as possible so that the prosthetic sacs can be removed within seven days. Abdominal wall stretching, "milking" of the intestinal contents into the stomach for decompression and a gastrostomy tube are avoided. The duration of hospitalization was not influenced by the method of abdominal wall closure in the gastroschisis infants. However, the hospitalization was approximately 10 days longer for those omphalocele patients managed by staged reduction. Complications which occurred in these patients include: respiratory distress (1); wound infection after removal of the Silastic sac (2); intestinal fistula (1); intestinal resection (3); intraabdominal sepsis (1); and incisional hernia (3). There was one death in the omphalocele group and three deaths in the gastroschisis group. Therefore, the overall survival for the 45 patients with AWD was 91%. Staged reduction of the herniated abdominal contents can be a safe, uncomplicated method of obtaining abdominal wall closure in neonates with AWD.
Reported is the analysis of morbidity, mortality, and mode of delivery in 38 cases of ventral wall defects identified from among 128,500 consecutive live births in Maine (January 1975 to December 1982). Thirteen of the ventral wall defects were classified as gastroschisis, and only one had an additional defect not directly attributable to the ventral wall defect itself. By contrast, 16 of the 25 omphalocele cases had additional defects, including eight congenital heart lesions, four genitourinary malformations, two neural tube defects, and three trisomies. Ten cases of omphalocele and one of gastroschisis died, all as a result of independent defects or involvement of adjacent structures. Intrauterine growth retardation was prominently associated with gastroschisis. Vaginal delivery occurred in three of the six ventral wall defects diagnosed antenatally and in 28 of the 32 ventral wall defects not diagnosed until delivery. The only episode of birth trauma to ventral wall defect sac or abdominal viscera occurred during cesarean section in an undiagnosed case. The present data provide a basis for prognosis and management of antenatally diagnosed ventral wall defects and suggest that these defects are not, a priori, an indication for abdominal delivery.
The records of an ongoing health surveillance registry that utilizes multiple sources of ascertainment were used to study the incidence rate of congenital malformations of the anterior abdominal wall in live-born children in British Columbia during the period 1964--1978 inclusive. No overall increase in incidence rate of these anomalies was detected during the study period. The estimated live-born incidence rates were: one in 4,175 live births for omphalocoele, one in 12,328 live births for gastroschisis, and one in 29,231 live births for prune belly. The data were analyzed with regard to sex and associated anomalies. Some practical implications regarding assessment of these infants are discussed.
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