Congenital anterior abdominal wall defects in England and Wales 1987-93: retrospective analysis of OPCS data.

OBJECTIVES: Analysis of incidence and characteristics of congenital abdominal wall defects, with special reference to the differences between the incidence of gastroschisis and exomphalos (omphalocele). DESIGN: Retrospective analysis using data from the Office of Population Censuses and Surveys (recoded to differentiate exomphalos and gastroschisis) and the National Congenital Malformation Notification Scheme. SETTING: England and Wales, 1987 to 1993. RESULTS: 1043 congenital anterior abdominal wall defects were notified within the seven year study period. Of these, 539 were classified as gastroschisis, 448 as exomphalos, 19 as "prune belly syndrome," and 37 as "unclassified." Gastroschisis doubled in incidence from 0.65 in 1987 to 1.35 per 10,000 total births in 1991, with little further change; the incidence of exomphalos decreased from 1.13 to 0.77 per 10000 births. The overall incidence of notified congenital abdominal wall defects was 2.15 per 10000 total births. Gastroschisis was associated with a lower overall maternal age than exomphalos and with a significantly lower proportion of additional reported congenital malformations (5.0%) than in the cohort with exomphalos (27.4%) (odds ratio 0.14, 95% confidence interval 0.09 to 0.22; P < 0.001). The sex ratio of the two cohorts was the same. The incidence of gastroschisis and exomphalos was higher in the northern regions of England than in the south east of the country. CONCLUSIONS: The national congenital malformation notification system showed an increasing trend in the incidence of fetuses born with gastroschisis and a progressive decreasing incidence of exomphalos in England and Wales between 1987 and 1993. Although the reasons for this are likely to be multifactorial, a true differential change seems likely. The observed increase in incidence of gastroschisis relative to exomphalos and the differentiation in maternal age have implications for resource management within the NHS and warrant further epidemiological monitoring. Regional differences may be due to a dietary or environmental factor, which requires further study.     

A new syndrome with prenatally diagnosed thoracoschisis, hiatal hernia and extremities' agenesis: case report

Thoracoschisis is a very rare congenital anomaly and is usually associated with limb and abdominal wall defects forming part of limb-body wall complex. We here present a case of a 29-week-4-day pregnancy ended with intrauterine demise. Postmortem examination revealed hiatal hernia, thoracoschisis and protrusion of some part of liver from this defect, left forearm agenesis and right arm and right hand agenesis. The findings accompanying thoracoschisis in this presented case exclude any previously reported related syndrome and we believe that this is a new syndrome.     

Limb‐body wall defect: Experience of a reference service of fetal medicine from Southern Brazil

Background: Limb‐body wall defect is a rare condition characterized by a combination of large and complex defects of the ventral thorax and abdominal wall with craniofacial and limb anomalies. Methods: The aim of this study was to describe the experience of our fetal medicine service, a reference from Southern Brazil, with prenatally diagnosed patients with a limb‐body wall defect in a 3 years period. Only patients who fulfilled the criteria suggested by Hunter et al. (2011) were included in the study. Clinical data and results of radiological and cytogenetic evaluation were collected from their medical records. Results: Our sample was composed of 8 patients. Many of their mothers were younger than 25 years (50%) and in their first pregnancy (62.5%). It is noteworthy that one patient was referred due to suspected anencephaly and another due to a twin pregnancy with an embryonic sac. Craniofacial defects were verified in three patients (37.5%), thoracic/abdominal abnormalities in 6 (75%) and limb defects in eight (100%). Congenital heart defects were observed in five patients (62.5%). One of them presented a previously undescribed complex heart defect. Conclusion: The results disclosed that complementary exams, such as MRI and echocardiography, are important to better define the observed defects. Some of them, such as congenital heart defects, may be more common than previously reported. This definition is essential for the proper management of the pregnancy and genetic counseling of the family. The birth of these children must be planned with caution and for the prognosis a long survival possibility, despite unlikely and rare, must be considered. Birth Defects Research (Part A) 100:739–749, 2014. © 2014 Wiley Periodicals, Inc.     

Abdominoplasty in infants for removal of giant congenital nevi: a report of three cases

The abdominal wall of the infant presents a significant skin excess. Applying techniques of aesthetic abdominoplasty, it is possible to excise extensive abdominal wall lesions, as often seen in children with congenital hairy nevi. Three cases of congenital nevi were handled in this manner and are presented. One case involved the upper abdomen, while the other two involved the lower abdomen.     

An algorithm for abdominal wall reconstruction

Acquired abdominal wall defects result from trauma, previous surgery, infection, and tumor resection. The correction of complex defects is a challenge to both plastic and reconstructive and general surgeons. The anatomy of the abdominal wall, as well as considerations in patient assessment and surgical planning, are discussed. A simple classification of abdominal wall defects based on size, depth, and location is provided. Publications regarding the various abdominal reconstruction techniques are reviewed and summarized to familiarize the reader with the treatment options for each particular defect. Finally, an algorithm is presented to guide the surgeon in selecting the optimal reconstructive technique.     

Congenital defects among liveborn infants with Down syndrome

BACKGROUND: Many infants with Down syndrome (DS) have co-occurring congenital malformations requiring intensive surgical and medical management. To anticipate the care needed by these infants, providers and parents require accurate information about birth defects that may be present. This article uses a unique national hospital discharge dataset to identify the rate at which structural birth defects are identified among liveborn infants with DS. METHODS: ICD-9-CM diagnosis codes for data from the Healthcare Cost and Utilization Project were used to identify infants with and without DS, and to classify birth defects. The study population consisted of liveborn infants discharged from the hospital from 1993 through 2002. ORs for the association between the occurrence of congenital malformations and the presence of DS were computed using logistic regression models for survey data. RESULTS: Discharge data included 11,372 DS and 7,884,209 non-DS births, representing national estimates of 43,463 DS and 39,716,469 non-DS births respectively. In addition to congenital heart defects that co-occurred most often in DS infants compared to infants without DS, the risks for gastrointestinal malformations (OR 67.07), genitourinary malformations (OR 3.62), orofacial malformations (OR 5.63), and abdominal wall malformations (OR 3.25) were also elevated in infants with DS. There was no difference in the risk of spina bifida between infants with and without DS. CONCLUSIONS: This is the first nationally representative compilation of the co-occurrence of congenital malformations associated with DS. This information may assist providers and parents in their attempts to understand and prepare for the true burden of this condition.     

Anterolateral thigh flap for abdominal wall reconstruction

The free or pedicled anterolateral thigh flap was introduced for the reconstruction of large abdominal wall defects. This flap is superior to the tensor fasciae latae musculocutaneous flap in several respects. These include the wide, reliable skin territory (which can reach the level of the knee) and the long pedicle. Therefore, a pedicled anterolateral thigh flap with reliable blood circulation can easily be positioned above the umbilicus. In addition, the free anterolateral thigh flap has greater freedom of orientation and can be used to repair larger abdominal wall defects than can the tensor fasciae latae flap. Seven patients in whom abdominal wall defects had been reconstructed with pedicled or free anterolateral thigh flaps were reviewed. Their average age was 47.1 years (range, 21 to 74 years), and the average follow-up period was 10.7 months (range, 2 to 21 months). The size of the abdominal wall defects ranged from 12 x 12 cm to 18 x 24 cm, and the size of the transferred flap ranged from 10 x 20 cm to 20 x 20 cm. Three flaps were pedicled and four were free, of which three incorporated the tensor fasciae latae flap. All flaps survived completely, and no postoperative abdominal hernias developed. Despite some variations in vascular anatomy and technical difficulties in elevating the anterolateral thigh flap, the authors conclude that the pedicled or free anterolateral thigh flap is superior to the tensor fasciae latae flap for reconstruction of large abdominal wall defects.     

The extended latissimus dorsi flap in repair of anterior abdominal wall defects

Large abdominal wall defects (ventral hernias) can be difficult to repair. Some defects are not amenable to primary repair or the use of synthetic mesh because of repeated recurrence or wound infection. In complicated situations such as that mentioned above, the extended latissimus dorsi muscle flap has been used to repair upper and middle abdominal wall defects. This method has been utilized in six patients, and there has been no recurrence of the defect or evidence of a lumbar hernia. The follow-up has been from 7 to 66 months. The extended latissimus dorsi muscle flap has proven to be an excellent alternative in the repair of complicated abdominal wall defects.     

Trends in rates of multiple vascular disruption defects, Atlanta, 1968-1989: is there evidence of a cocaine teratogenic epidemic?

Research suggests that, perhaps through mechanisms initiated by vasoconstriction and leading to vessel thrombosis or embolism, cocaine causes vascular disruption defects, and that frequent cocaine use during early pregnancy could disrupt multiple organ systems in the fetus. We hypothesized that if cocaine is an important cause of multiple vascular disruption defects, a rising prevalence of cocaine use by mothers during pregnancy should be accompanied by rising rates of these defects in their offspring. Using data from the Metropolitan Atlanta Congenital Defects Program, we identified all infants born in Atlanta from 1968 through 1989 who had nonsyndromic, provisional vascular disruption defects affecting more than one organ system: 61 infants (78%) had gastrointestinal and genitourinary defects, 7 (9%) had gastrointestinal and abdominal wall defects, 2 (3%) had gastrointestinal and limb reduction defects, 2 (3%) had limb reduction and abdominal wall defects, 2 (3%) had central nervous system and gastrointestinal defects, 2 (3%) had genitourinary and limb reduction defects, 1 (1%) had genitourinary and abdominal wall defects, and 1 (1%) had central nervous system and genitourinary defects. The prevalence of Atlanta infants with more than one vascular disruption defect is 0.13 per 1,000 live births. Chi-square analysis for trends showed no increase in prevalence during the study period. Our data are from one of the first population-based studies in which trends for defects potentially caused by maternal cocaine use are examined; the results of our study show no significant change in the prevalence of multiple vascular disruption defects over time.(ABSTRACT TRUNCATED AT 250 WORDS)     

Pentalogy of Cantrell: report of a case with consanguineous parents

Pentalogy of Cantrell is a syndrome evidencing five anomalies: a midline, upper abdominal wall abnormality; lower sternal defect; anterior diaphragmatic defect; diaphragmatic pericardial defect, and congenital abnormalities of the heart. Its prevalence is one in every 65,000 live births and a survival rate that is low if the fall the five defects are present or the gravity of the cardiac anomalies. It may be diagnosed during the first trimester obstetric ultrasound. For postnatal care, emission-computed tomography and magnetic resonance imaging is recommended for a clear definition of the extent of the defect and to design a course of corrective surgery. Herein, a case of pentology of Cantrell is reported for a child offspring of consanguineous parents.     

Aplasia cutis congenita reminiscent of the lines of Blaschko

A male newborn showing congenital symmetrical abdominal skin defects and an alopecia on the scalp following a spiral pattern is described. The pattern of distribution of both skin anomalies was reminiscent of the lines of Blaschko, indicating that somatic mosaicism is the most probable cause for the defects.     

A case report of ectopia cordis and omphalocele

A rare congenital defect in fusion of the anterior chest wall resulting in an extrathoracic location of the heart. Cantrell''s pentalogy is a congenital anomaly resulting from embryologic development defect and consists of the following: A deficiency of the anterior diaphragm, a midline supraumbilical abdominal wall defect, a defect in the diaphragmatic pericardium, congenital intracardiac abnormalities, and a defect of the lower sternum. Here we report a rare case of ectopic cordis with omphalocele.     

Ectodermal Wnt signaling regulates abdominal myogenesis during ventral body wall development

Defects of the ventral body wall are prevalent birth anomalies marked by deficiencies in body wall closure, hypoplasia of the abdominal musculature and multiple malformations across a gamut of organs. However, the mechanisms underlying ventral body wall defects remain elusive. Here, we investigated the role of Wnt signaling in ventral body wall development by inactivating Wls or β-catenin in murine abdominal ectoderm. The loss of Wls in the ventral epithelium, which blocks the secretion of Wnt proteins, resulted in dysgenesis of ventral musculature and genito-urinary tract during embryonic development. Molecular analyses revealed that the dermis and myogenic differentiation in the underlying mesenchymal progenitor cells was perturbed by the loss of ectodermal Wls. The activity of the Wnt-Pitx2 axis was impaired in the ventral mesenchyme of the mutant body wall, which partially accounted for the defects in ventral musculature formation. In contrast, epithelial depletion of β-catenin or Wnt5a did not resemble the body wall defects in the ectodermal Wls mutant. These findings indicate that ectodermal Wnt signaling instructs the underlying mesodermal specification and abdominal musculature formation during ventral body wall development, adding evidence to the theory that ectoderm-mesenchyme signaling is a potential unifying mechanism for the origin of ventral body wall defects.     

Patent ductus arteriosus in mice with smooth muscle-specific Jag1 deletion

The ductus arteriosus is an arterial vessel that shunts blood flow away from the lungs during fetal life, but normally occludes after birth to establish the adult circulation pattern. Failure of the ductus arteriosus to close after birth is termed patent ductus arteriosus and is one of the most common congenital heart defects. Mice with smooth muscle cell-specific deletion of Jag1, which encodes a Notch ligand, die postnatally from patent ductus arteriosus. These mice exhibit defects in contractile smooth muscle cell differentiation in the vascular wall of the ductus arteriosus and adjacent descending aorta. These defects arise through an inability to propagate the JAG1-Notch signal via lateral induction throughout the width of the vascular wall. Both heterotypic endothelial smooth muscle cell interactions and homotypic vascular smooth muscle cell interactions are required for normal patterning and differentiation of the ductus arteriosus and adjacent descending aorta. This new model for a common congenital heart defect provides novel insights into the genetic programs that underlie ductus arteriosus development and closure.     

Abdominal wall reconstruction (the "mutton chop" flap).

Reconstruction of full-thickness abdominal wall defects can be a difficult surgical challenge. Reconstructing the epigastrium may be especially vexing. The use of prosthetic mesh has significant drawbacks, and the use of pedicled myofascial and myocutaneous flaps should be advantageous. We present 15 consecutive cases demonstrating highly successful reconstructions of massive abdominal wall defects using myofascial and myocutaneous flaps without prosthetic mesh. The extended rectus femoris flap, or "mutton chop" flap, which is capable of resurfacing the epigastrium, is described. Complications were minimal, and use of myofascial units, particularly the rectus femoris, should be considered as the technique of choice for reconstruction of major abdominal wall deficits.     

Abdominal wall partitioning (the accordion effect) for reconstruction of major defects: a retrospective review of 10 patients

Ten patients underwent abdominal wall reconstruction using the technique of abdominal wall partitioning. All defects were closed in the midline by approximating fascia to fascia with the assistance of a general surgeon. One patient had skin grafted small bowel. Five patients had chronically infected mesh and previous failed attempts at repair. Four patients had large ventral hernias following gastric reduction operations and massive weight loss. No defect in any dimension was less than 20 cm. All patients had secure abdominal wall repair by reconstruction of a midline anchor for the abdominal wall musculature. One patient was lost to follow-up after 3 weeks. The average follow-up time for the remaining nine patients was 18.6 months (range, 6 months to 4.7 years). One patient required readmission to the hospital for management of a limited area of skin necrosis. Two patients had minor wound infections, and three patients had subcutaneous seromas, all of which were managed on an outpatient basis. One patient developed a 2 x 2-cm subxiphoid hernia recurrence. Technical details include subcutaneous undermining of the abdominal skin to the anterior axillary lines bilaterally, mobilization of the viscera to expose the white lines of Toldt bilaterally, and parallel, parasagittal, staggered releases of the transversalis fascia, transversalis muscle, external oblique fascia, external oblique muscle, and rectus fascia. These multiple releases allow expansion and translation of the abdominal wall by an accordion-like effect. This accordion-like effect allows closure of abdominal wall defects that are substantially larger than what can be closed with current techniques.     

The separation of anatomic components technique for the reconstruction of massive midline abdominal wall defects: anatomy, surgical technique, applications, and limitations revisited

Reconstruction of massive abdominal wall defects has long been a vexing clinical problem. A landmark development for the autogenous tissue reconstruction of these difficult wounds was the introduction of "components of anatomic separation" technique by Ramirez et al. This method uses bilateral, innervated, bipedicle, rectus abdominis-transversus abdominis-internal oblique muscle flap complexes transposed medially to reconstruct the central abdominal wall. Enamored with this concept, this institution sought to define the limitations and complications and to quantify functional outcome with the use of this technique. During a 4-year period (July of 1991 to 1995), 22 patients underwent reconstruction of massive midline abdominal wounds. The defects varied in size from 6 to 14 cm in width and from 10 to 24 cm in height. Causes included removal of infected synthetic mesh material (n = 7), recurrent hernia (n = 4), removal of split-thickness skin graft and dense abdominal wall cicatrix (n = 4), parastomal hernia (n = 2), primary incisional hernia (n = 2), trauma/enteric sepsis (n = 2), and tumor resection (abdominal wall desmoid tumor involving the right rectus abdominis muscle) (n = 1). Twenty patients were treated with mobilization of both rectus abdominis muscles, and in two patients one muscle complex was used. The plane of "separation" was the interface between the external and internal oblique muscles. A quantitative dynamic assessment of the abdominal wall was performed in two patients by using a Cybex TEF machine, with analysis of truncal flexion strength being undertaken preoperatively and at 6 months after surgery. Patients achieved wound healing in all cases with one operation. Minor complications included superficial infection in two patients and a wound seroma in one. One patient developed a recurrent incisional hernia 8 months postoperatively. There was one postoperative death caused by multisystem organ failure. One patient required the addition of synthetic mesh to achieve abdominal closure. This case involved a thin patient whose defect exceeded 16 cm in width. There has been no clinically apparent muscle weakness in the abdomen over that present preoperatively. Analysis of preoperative and postoperative truncal force generation revealed a 40 percent increase in strength in the two patients tested on a Cybex machine. Reoperation was possible through the reconstructed abdominal wall in two patients without untoward sequela. This operation is an effective method for autogenous reconstruction of massive midline abdominal wall defects. It can be used either as a primary mode of defect closure or to treat the complications of trauma, surgery, or various diseases.     

Risk of adverse birth outcomes in populations living near landfill sites

ObjectiveTo investigate the risk of adverse birth outcomes associated with residence near landfill sites in Great Britain.DesignGeographical study of risks of adverse birth outcomes in populations living within 2 km of 9565 landfill sites operational at some time between 1982 and 1997 (from a total of 19 196 sites) compared with those living further away.SettingGreat Britain.SubjectsOver 8.2 million live births, 43 471 stillbirths, and 124 597 congenital anomalies (including terminations).ResultsFor all anomalies combined, relative risk of residence near landfill sites (all waste types) was 0.92 (99% confidence interval 0.907 to 0.923) unadjusted, and 1.01 (1.005 to 1.023) adjusted for confounders. Adjusted risks were 1.05 (1.01 to 1.10) for neural tube defects, 0.96 (0.93 to 0.99) for cardiovascular defects, 1.07 (1.04 to 1.10) for hypospadias and epispadias (with no excess of surgical correction), 1.08 (1.01 to 1.15) for abdominal wall defects, 1.19 (1.05 to 1.34) for surgical correction of gastroschisis and exomphalos, and 1.05 (1.047 to 1.055) and 1.04 (1.03 to 1.05) for low and very low birth weight respectively. There was no excess risk of stillbirth. Findings for special (hazardous) waste sites did not differ systematically from those for non-special sites. For some specific anomalies, higher risks were found in the period before opening compared with after opening of a landfill site, especially hospital admissions for abdominal wall defects.ConclusionsWe found small excess risks of congenital anomalies and low and very low birth weight in populations living near landfill sites. No causal mechanisms are available to explain these findings, and alternative explanations include data artefacts and residual confounding. Further studies are needed to help differentiate between the various possibilities.

What is already known on this topic

Various studies have found excess risks of certain congenital anomalies and low birth weight near landfill sitesRisks up to two to three times higher have been reportedThese studies have been difficult to interpret because of problems of exposure classification, small sample size, confounding, and reporting bias

What this study adds

Some 80% of the British population lives within 2 km of known landfill sites in Great BritainBy including all landfill sites in the country, we avoided the problem of selective reporting, and maximised statistical powerAlthough we found excess risks of congenital anomalies and low birth weight near landfill sites in Great Britain, they were smaller than in some other studiesFurther work is needed to differentiate potential data artefacts and confounding effects from possible causal associations with landfill     

"Components separation" method for closure of abdominal-wall defects: an anatomic and clinical study

Closure of large abdominal-wall defects usually requires the transposition of remote myocutaneous flaps or free-tissue transfers. The purpose of this study was to determine if separation of the muscle components of the abdominal wall would allow mobilization of each unit over a greater distance than possible by mobilization of the entire abdominal wall as a block. The abdominal walls of 10 fresh cadavers were dissected. This demonstrated that the external oblique muscle can be separated from the internal oblique in a relatively avascular plane. The rectus muscle with its overlying rectus fascia can be elevated from the posterior rectus sheath. The compound flap of the rectus muscle, with its attached internal oblique-transversus abdominis muscle, can be advanced 10 cm around the waistline. The external oblique has limited advancement. These findings were utilized clinically in the reconstruction of abdominal-wall defects in 11 patients, ranging in size from 4 x 4 to 18 x 35 cm. This study suggests that large abdominal-wall defects can be reconstructed with functional transfer of abdominal-wall components without the need for resorting to distant transposition of free-muscle flaps.