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Long-term follow-up of children with prenatally diagnosed omphalocele and gastroschisis
Abstract
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.
... 6 The impact of gastroschisis on growth and neurodevelopment, based on previous studies, is uncertain because of limitations in study design, including small cohort sizes, the inclusion of patients with unrelated abdominal wall defects, evaluations by report only and the inclusion of patients born greater than 20 years ago. [8][9][10][11] As a result, some studies report normal growth, and others report a high percentage of growth failure. [11][12][13] Neurodevelopmental findings also vary, with both impaired development 8 and normal development 12 reported. ...
... [8][9][10][11] As a result, some studies report normal growth, and others report a high percentage of growth failure. [11][12][13] Neurodevelopmental findings also vary, with both impaired development 8 and normal development 12 reported. Advances over the past 15 years in neonatal care, including improved respiratory management and parenteral nutrition, may have improved long-term growth and neurodevelopment. ...
... Impaired long-term growth of infants with gastroschisis has been described previously. [8][9][10][11]13 In studies published more than 20 years ago, 30 to 40% of survivors were less than the 10th percentile for weight at follow-up. 8,13,20 Berseth et al. 8 described a case series of infants with either gastroschisis or omphalocele, who were born between 1964 and 1977, and observed minimal catch-up growth for both weight and length. ...
To examine growth, neurodevelopment and morbidity in infants with gastroschisis.
We enrolled all infants with gastroschisis treated at the North Carolina Children's Hospital from March 2003 through June 2005. Neonatal data were collected. Medical history, growth and neurodevelopment were assessed at 16 to 24 months.
Of 24 infants, 17 completed follow-up. Weight and length were below the 10th percentile for five and six infants, respectively. Three infants scored less than 85 on the Bayley Scales of Infant Development, second edition. Small for gestational age (SGA) infants were smaller and had lower neurodevelopmental scores. Fourteen experienced continued bowel dysfunction; nine were rehospitalized.
One-third of infants with gastroschisis experience growth delay. Infants who are SGA are at higher risk, suggesting that postnatal growth may be influenced by fetal phenomena, and may not be modifiable. Neurodevelopment is not delayed. Continued bowel dysfunction is common.
... There were 18 (0.47%) deaths with 0.34% (n ¼ 13/3770) intrauterine fetal death and 0.13% (n ¼ 5/3770) elective termination of pregnancy 1, 22, 50. In addition, there were 23.23% (n ¼ 876/3770) of preterm delivery (spontaneous and iatrogenic) [1,18,30,32,35,40,41,49,51,53,[55][56][57] and 4.43% (n ¼ 167/3770) of intrauterine growth restriction [20,21,28,38,41,44]. ...
... In the study by Davis et al. [23] survival was significantly associated with birth weight and estimated gestational age at delivery. Non-survivors were significantly younger on average (32.7 vs. 35 Table 1 as elective delayed reduction [27], multiple laparotomies 36 and staged closure [21,38,40,46]. ...
Objectives: The present systematic review aims to investigate the diagnosis, prognosis, delivery assistance, pregnancy results and postnatal management in gastroschisis.
Study design: The following data sources were evaluated: The CINAHL, Embase and MEDLINE/ PubMed databases were searched, observational and intervention studies published over the past 20 years. The quality of the studies was assessed using the Grading of Recommendations, Assessment, Development, and Evaluations (GRADE).
Results: A total of 3770 infants diagnosed with gastroschisis were included (44 studies); 1534 fetuses were classified as simple gastroschisis and 288 as complex gastroschisis. Intrauterine fetal demise occurred in 0.47% and elective termination occurred in 0.13%. Preterm delivery occurred in 23.23% and intrauterine growth restriction in 4.43%. Cesarean section delivery was performed in 54.6%. Neonatal survival was 91.29%. The main neonatal complications were: sepsis (11.78%), necrotizing enterocolitis (2.33%), short bowel syndrome (1.37%), bowel obstruction (0.79%), and volvulus (0.23%). Immediate surgical repair was performed in 80.1% with primary closure in
69%. The average to oral feeding was 33 (range: 11–124.5) days. Average hospital duration was 38 days and 89 days in neonates with simple and complex grastroschisis, respectively.
Conclusions: The present systematic review provides scientific data for counseling families with fetal gastroschisis.
... Most children showed a significant improvement in their overall growth from birth to current testing, such that only 1 (2%) child was underweight at follow-up. Lunzer et al. also observed this phenomenon in their cohort of 12 school-aged children with gastroschisis in whom there was an ongoing increase in weight and height over time [29]. Similarly, Davies and Stringer, in a series of 23 survivors with a median age of 16 years, observed a normalization of weight distribution [30]. ...
... The median age of the children with pain on a weekly basis was the same as the overall group; 10/19 reported their pain usually lasted less than an hour. Varying degrees of abdominal pain have been reported in children with gastroschisis; 26% in a cohort of older gastroschisis children [29] and 83% in a younger cohort of children where the pain was thought to be mostly due to gastroesophageal reflux [45]. Additionally, van Eijck et al. reported chronic abdominal pain in 30% of children with gastroschisis and exomphalos [14]. ...
... Most children showed a significant improvement in their overall growth from birth to current testing, such that only 1 (2%) child was underweight at follow-up. Lunzer et al. also observed this phenomenon in their cohort of 12 school-aged children with gastroschisis in whom there was an ongoing increase in weight and height over time [29]. Similarly, Davies and Stringer, in a series of 23 survivors with a median age of 16 years, observed a normalization of weight distribution [30]. ...
... The median age of the children with pain on a weekly basis was the same as the overall group; 10/19 reported their pain usually lasted less than an hour. Varying degrees of abdominal pain have been reported in children with gastroschisis; 26% in a cohort of older gastroschisis children [29] and 83% in a younger cohort of children where the pain was thought to be mostly due to gastroesophageal reflux [45]. Additionally, van Eijck et al. reported chronic abdominal pain in 30% of children with gastroschisis and exomphalos [14]. ...
... 107 Similar results were reported by others. 102,103,113,115,118,121 ...
... Similar results were described by others. 103,106,115,116,118 Interestingly, 9% of children reported being proud of their scar. ...
Gastroschisis is a common congenital abdominal wall defect. It is almost always diagnosed prenatally thanks to routine maternal serum screening and ultrasound screening programs. In the majority of cases the condition is isolated (i.e. not associated with chromosomal or other anatomical anomalies). Prenatal diagnosis allows for planning the timing, mode and location of delivery. Controversies persist concerning the optimal antenatal monitoring strategy. Compelling evidence supports elective delivery at 37 weeks gestation in a tertiary pediatric center. Cesarean section should be reserved for routine obstetrical indications. Prognosis of infants with gastroschisis is primarily determined by the degree of bowel injury, which is difficult to assess antenatally. Prenatal counseling usually addresses gastroschisis issues. However, parental concerns are mainly focused on long-term postnatal outcomes including gastro-intestinal function and neurodevelopment. Although infants born with gastroschisis often endure a difficult neonatal course, they experience few long-term complications. This manuscript, which is structured around common parental questions and concerns, reviews the evidence pertaining to the antenatal, neonatal and long-term implications of a fetal gastroschisis diagnosis and is aimed at helping health care professionals counsel expecting parents. This article is protected by copyright. All rights reserved.
... Type I omphaloceles have a better prognosis in countries with a high technical plateau. 7 However, primary surgical closure remains the primary indication recommended in the literature. 8 The the use of conservative methods is recommended in the treatment of type II omphaloceles. ...
The omphalocele constitutes a embryofoetopathy which exposes the newborn to multiple complications including digestive one. We report the case of a newborn with Aïtken type I omphalocele under tanning according to the Grob method having secondarily presented a neonatal occlusion. Surgical exploration found a tight neck of 4 cm with a sac containing the ascending colon and the strangulated caeco-appendix at the level of the neck. We proceed to the reduction of the handles. We also noted on exploration, an arrangement of the handles in an incomplete common mesentery. He underwent an appendectomy then a provision of the slender handles on the right and the colon on the left according to the LADD procedure with closure of the abdominal cavity in one step. The operative consequences were simple after a follow-up of 6 months.
... tuted the highest proportion (53.3%) of those who died. This may not be unconnected with the fact that associated anomalies are said to be common in 45 -88% of omphalocele and the severity of anomalies determine the prognosis[9]. Mortality is said to be close to 80% when associated anomalies are present and increase to 100% when chromosomal and cardiovascular anomalies are the ones present[10][11][12][13]. When omphalocele is isolated the prognosis is good and the mortality is 10%. ...
... Complications often observed in children after repair of omphalocele are gastroesophageal reflux disease, feeding difficulties, failure to thrive and chronic lung disease. Furthermore, in children with giant omphalocele neurodevelopmental and motor delays occur more often [141]. Apart from abdominal hernias, as a result from increased intraabdominal pressure, children after omphalocele repair also have a higher incidence of inguinal hernias [142]. ...
Gastroschisis and omphalocele reflect the two most common abdominal wall defects in newborns. First postnatal care consists of defect coverage, avoidance of fluid and heat loss, fluid administration and gastric decompression. Definitive treatment is achieved by defect reduction and abdominal wall closure. Different techniques and timings are used depending on type and size of defect, the abdominal domain and comorbidities of the child. The present review aims to provide an overview of current treatments.
... We have similar results to Lunzer et al. (ref. 9 ) who claimed that after discharge, all their patients with gastroschisis were developing normally except for one child with history of prenatal asphyxia, who showed signs of mental retardation. Very good intellectual abilities is also described by Harris et al. in their cohort study 10 . ...
Aim:
To evaluate long-term quality of life and somatic growth of patients with gastroschisis and compare them with the general population.
Methods:
We performed a questionnaire survey of the quality of life of our patients treated between 2004-2012.
Results:
A questionnaire was sent to our 56 patients with gastroschisis, 38 mothers of patients (68%) responded to the questionnaire. 33 of 38 mothers claim that the quality of life of their child is very good, 4 of them responded that it is good. 1 mother confessed that the quality of life was very poor. Anthropometric data show comparable results with the standard population except for patients of 1 year of age who still have lower weight (P<0.001) and body height in the 5th percentile and patients of 3 years of age who are also significantly thinner. 13% of patients in our study group have gastrointestinal problems. 9 patients (24%) attend follow-up at the neurological center (Attention Deficit Hyperactivity Disorder n=6, mental retardation n=1, dysarthria n=2), however, overall intellectual abilities are within normal range. 7 patients underwent surgery for umbilical (n=3) or inguinal hernia (n=4), 2 patients were operated on for undescended testicles, 3 patients were operated on for an adhesive ileus. 92% of mothers are very satisfied with the cosmetic result of the scar.
Conclusion:
The study has shown that the majority of patients after operation of gastroschisis have a very good quality of life without limitation in comparison with the general population. The presented anthropometric data confirm that the development of patients with gastroschisis is favourable.
... Fetal gastroschisis is characterized by an elevated degree of severity of fetus health condition, birth prevalence at young maternal age, early detection stage, high level of medicalization in the prenatal and postpartum periods (Stoll, Alembik, Dott, & Roth, 2001;L.J. Williams, Kucik, Alverson, Olney, & Correa, 2005), and long-term consequences (Lunzer, Menardi, & Brezinka, 2001), which may be associated with the subsequent development of further pediatric disorders such as food refusal (K.E. Williams, Field, & Seiverling, 2010). ...
The aim of this study was to identify possible effects of gastroschisis on parents' intrapsychic dynamics by applying an observational clinical approach. More specifically, we intend to (a) evaluate the representational style of parents informed about the diagnosis of fetal gastroschisis during pregnancy using the Interview of Maternal Representations During Pregnancy and the Interview of Paternal Representations During Pregnancy (M. Ammaniti, C. Candelori, M. Pola, & R. Tambelli, ) and (b) observe whether the baby's birth influences the parents' representational styles through the application of the same tools (the Interview of Maternal Representations After the Birth, M. Ammaniti & R. Tambelli, , and the Interview of Paternal Representations After the Birth, M. Ammaniti & R. Tambelli, ), adapted to the postnatal period. During the prenatal period, all parents showed a restricted/disinvested style. Three parents-one mother and two fathers-changed their styles from restricted/disinvested to integrated between pregnancy and Month 6 after the birth of their child. Clinical data from the interviews and observations are discussed in an attempt at better defining intrapsychic dynamics of parents after a diagnosis of gastroschisis.
... In addition, many patients with isolated congenital anomalies have regained (almost) normal health status at 5 years, as was described for simple abdominal wall defects and isolated small bowel atresia without concomitant short bowel syndrome. 114,217,295,390 Children with persistent health problems interfering with normal social life, like children with anorectal malformations, show persistent or even emerging psychosocial problems at a later age when social acceptance of fecal incontinence becomes an issue and sexual functions start to develop. 207 Thus, clinicians should be aware that psychosocial problems might be present, even though patients do not explicitly report them, or could emerge at a later age. ...
... In the absence of severe heart or lung malformations and chromosomal abnormalities, most of these children will live a normal life (27). A 2001 study concluded that the abnormalities and malformations associated with anterior abdominal wall defects are the main factors that may affect long-term quality of life (28). Over 90% of the children with anterior abdominal wall defects without associated abnormalities and malformations will have a normal physical, psychological and intellectual development and perfectly integrated into society at adulthood. ...
Background:
Omphalocele is a congenital abnormality whose prognosis has improved significantly over the last few decades, reaching a survival rate of 80-90% in developed countries. Currently, in Romania no comprehensive study on the incidence, treatment, and survival of patients with this defect of the anterior abdominal wall has been carried out.
Methods:
This retrospective analytical study was conducted over a period of 23 years and included 105 children with omphalocele. Prenatal diagnosis, referral to our hospital, children age upon admission, associated diseases, medical and surgical management, early and late postoperative complications, and the length of hospital stay were analysed.
Results:
The low rate of antenatal diagnosis (13.3%), the high frequency of associated congenital malformations (71.4%) and chromosomal abnormalities (27.6%), inadequate and delayed transport to a specialized pediatric surgery center together with an increased rate of sepsis (37.1%)resulted in a high mortality rate (54.3%).
Conclusions:
The significantly reduced length of hospital stay and higher survival rate despite the apparently more frequent medical complications plead for the surgical treatment of omphalocele whenever not contraindicated by the presence of severe pulmonary hypoplasia, cardiac defects, immaturity and other severe congenital anomalies, when conservative treatment is indicated.
... Whilst a well-conducted, multicentre, randomised, blinded, placebo controlled trial found no benefit in the value of oral erythromycin on enteral feeding in infants with GS at a dose of 12 mg/kg/day, a later systemic review found some evidence that higher doses may be of some benefit in neonates of greater than 32 weeks of gestation [105, 106] . Early trophic feeding has been associated with reduced LOS and shorter duration of TPN, but the evidence for this approach, whilst logical, remains weak with a need for further studies [3, 100, 107]. There remain few reviews of the long-term outcomes in GS survivors. ...
Gastroschisis (GS) continues to increase in frequency, with several studies now reported an incidence of between 4 and 5 per 10,000 live births. The main risk factor would seem to be young maternal age, and it is in this group that the greatest increase has occurred. Whilst various geographical regions confer a higher risk, the impact of several other putative risk factors, including smoking and illicit drug use, may be less important than when first identified in early epidemiological studies. Over 90% of cases of GS will now be diagnosed on antenatal ultrasound, but its value in determining the need for early delivery remains unclear. There would appear no clear evidence for either routine early delivery or elective caesarean section for infants with antenatally diagnosed GS. Delivery at a centre with paediatric surgical facilities reduces the risk of subsequent morbidity and should represent the standard of care. The relative roles of primary closure, staged closure and ward reduction, with or without general anaesthesia, appear less clear with considerable variation between centres in both the use of these techniques and subsequent surgical outcomes. Survival rates continue to improve, with rates well in excess of 90% now routine. The limited long-term developmental data available would suggest that normal or near-normal outcomes may be expected although there remains a need for further studies.
... The abdominal wall congenital malformations omphalocele and gastroschisis have a high mortality rate. Only 60% of children with such malformations survive by the end of the 1 st year of age [1,2]. ...
Omphalocele and gastroschisis are recognized as congenital malformations with a high mortality. Only 60% of children with such malformations survive until the end of the first year of age. It has been suggested that omphalocele and gastroschisis are associated with other congenital malformations, concerning the bones, the heart and the kidney. The aim of the present study is to determine the risk factors in 12 omphalocele and four gastroschisis cases diagnosed and surveyed in the last four years (November 2003-November 2007) at the Emergency County Hospital of Constanta. In 10 of the 16 cases of the studied group, the subjects resulted from spontaneous premature births. None of the cases in the studied group received the maximum APGAR score, values varying between 6 and 9. The average birth weight in the studied group is 2100 g, with values between 950 g and 2900 g. Maternal age is between 15-21-year-old. Average maternal age in cases of second-degree gastroschisis is 6.5 years younger than the witness population and in case of first degree is 5.8 years younger. 87.5% of children's mothers in studied group are first time pregnant, first time gestant. The mother's socio-economic status may be a risk factor on the occurrence of omphalocele and gastroschisis. 81.25% of children's mother in the studied group have no own income and half are single (mono-parental families). None of the studied cases had a history of congenitally malformed siblings, but half of the cases in the studied group associate congenital malformations of gastro-intestinal tract, locomotor system, kidneys and/or heart. The abdominal wall defect existing in gastroschisis is accompanied by the delay of the intestinal loops differentiation. In all cases of gastroschisis in the studied group, the thin intestine caliber is higher or equal to the one of the thick intestine, the intestinal loops remained outside the abdominal cavity have an aspect characteristic to the fifth month of fetal life.
Importance:
Congenital omphalocele is among the most common antenatally diagnosed anomalies. As additional abnormalities are found in majority of cases, antenatal investigations target the search for additional structural anomalies and genetic disorders, including aneuploidy. Antenatal management focuses on the assessment of fetal well-being. Unfortunately, antenatal prediction of postnatal and long-term outcomes represents 2 less well-documented but crucial facets of this pathology. A large part of the prognosis relies on aspects that are difficult to predict such as quality of life, neurological development, and autonomy, which cause significant anxiety in expectant parents.
Objective:
This article offers a comprehensive review of antenatal management of omphalocele with a specific focus on predictive factors and long-term outcomes.
Evidence acquisition, results:
We conducted an extensive literature review targeting management of fetal omphalocele. We had a specific interest in factors predictive of fetal and neonatal outcome as well as long-term consequences of omphalocele. Fetuses with large defects and those containing the liver are at higher risk of having a complicated postnatal course. Neonates may experience pulmonary hypoplasia, pulmonary hypertension, and gastroesophageal reflux. In selected cases, motor and cognitive delay may be present, but the overall life-long prognosis and quality of life is good.
Conclusions and relevance:
A multidisciplinary approach should be encouraged after the diagnosis of fetal omphalocele. In addition to clinical team experience, antenatal counseling should be based on objective and gestational age-dependent criteria and should include long-term outcomes.
Background
Gastroschisis silos are often unavailable in sub-Saharan Africa (SSA), contributing to high mortality. We describe a collaboration between engineers and surgeons in the United States and Uganda to develop a silo from locally available materials.
Methods
Design criteria included the following: < $5 cost, 5 ± 0.25 cm opening diameter, deformability of the opening construct, ≥ 500 mL volume, ≥ 30 N tensile strength, no statistical difference in the leakage rate between the low-cost silo and preformed silo, ease of manufacturing, and reusability. Pugh scoring matrices were used to assess designs. Materials considered included the following: urine collection bags, intravenous bags, or zipper storage bags for the silo and female condom rings or O-rings for the silo opening construct. Silos were assembled with clothing irons and sewn with thread. Colleagues in Uganda, Malawi, Tanzania, and Kenya investigated material cost and availability.
Results
Urine collection bags and female condom rings were chosen as the most accessible materials. Silos were estimated to cost < $1 in SSA. Silos yielded a diameter of 5.01 ± 0.11 cm and a volume of 675 ± 7 mL. The iron + sewn seal, sewn seal, and ironed seal on the silos yielded tensile strengths of 31.1 ± 5.3 N, 30.1 ± 2.9 N, and 14.7 ± 2.4 N, respectively, compared with the seal of the current standard-of-care silo of 41.8 ± 6.1 N. The low-cost silos had comparable leakage rates along the opening and along the seal with the spring-loaded preformed silo. The silos were easily constructed by biomedical engineering students within 15 min. All silos were able to be sterilized by submersion.
Conclusions
A low-cost gastroschisis silo was constructed from materials locally available in SSA. Further in vivo and clinical studies are needed to determine if mortality can be improved with this design.
Background: Gastroschisis is associated with less than 4% mortality in high-income countries and over 90% mortality in many tertiary paediatric surgery centres across sub-Saharan Africa (SSA). The aim of this trial is to develop, implement and prospectively evaluate an interventional bundle to reduce mortality from gastroschisis in seven tertiary paediatric surgery centres across SSA.
Methods: A hybrid type-2 effectiveness-implementation, pre-post study design will be utilised. Using current literature an evidence-based, low-technology interventional bundle has been developed. A systematic review, qualitative study and Delphi process will provide further evidence to optimise the interventional bundle and implementation strategy. The interventional bundle has core components, which will remain consistent across all sites, and adaptable components, which will be determined through in-country co-development meetings. Pre- and post-intervention data will be collected on clinical, service delivery and implementation outcomes for 2-years at each site. The primary clinical outcome will be all-cause, in-hospital mortality. Secondary outcomes include the occurrence of a major complication, length of hospital stay and time to full enteral feeds. Service delivery outcomes include time to hospital and primary intervention, and adherence to the pre-hospital and in-hospital protocols. Implementation outcomes are acceptability, adoption, appropriateness, feasibility, fidelity, coverage, cost and sustainability.
Pre- and post-intervention clinical outcomes will be compared using Chi-squared analysis, unpaired t-test and/or Mann-Whitney U test. Time-series analysis will be undertaken using Statistical Process Control to identify significant trends and shifts in outcome overtime. Multivariate logistic regression analysis will be used to identify clinical and implementation factors affecting outcome with adjustment for confounders.
Outcome: This will be the first multi-centre interventional study to our knowledge aimed at reducing mortality from gastroschisis in low-resource settings. If successful, detailed evaluation of both the clinical and implementation components of the study will allow sustainability in the study sites and further scale-up.
Registration: ClinicalTrials.gov Identifier NCT03724214.
ABSTRACT
There is great global disparity in the outcome of infants born with gastroschisis. Mortality approaches 100% in many low income countries. Barriers to better outcomes include lack of antenatal diagnosis, deficient pre-hospital care, ineffective neonatal resuscitation and venous access, limited intensive care facilities, poor access to the operating theatre and safe neonatal anesthesia, and lack of neonatal parenteral nutrition. However, lessons can be learned from the evolution in management of gastroschisis in high-income countries, generic efforts to improve neonatal survival in low- and middle-income countries as well as specific gastroschisis management initiatives in low-resource settings. Micro and meso-level interventions include educational outreach programs, and pre and in hospital management protocols that focus on resuscitation and include the delay or avoidance of early neonatal anesthesia by using a preformed silo or equivalent. Furthermore, multidisciplinary team training, nurse empowerment, and the intentional involvement of mothers in monitoring and care provision may contribute to improving survival. Macro level interventions include the incorporation of ultrasound into World Health Organisation antenatal care guidelines to improve antenatal detection and the establishment of the infrastructure to enable parenteral nutrition provision for neonates in low- and middle-income countries. On a global level, gastroschisis has been suggested as a bellwether condition for evaluating access to and outcomes of neonatal surgical care provision.
Background:
Omphalocele is one of the most common abdominal wall defects. Many newborn infants born with omphalocele present with significant respiratory distress at birth, requiring mechanical ventilatory support, and have clinical evidence of pulmonary hypertension. Little information exists on the prevalence of and risk factors associated with pulmonary hypertension in this cohort of infants.
Objectives:
To describe the prevalence of and risk factors associated with pulmonary hypertension among infants with omphalocele.
Methods:
This is a multicenter retrospective chart review of demographic data and clinical characteristics of infants with omphalocele admitted to the neonatal intensive care units of Loma Linda University Children's Hospital and Children's Mercy Hospital between 1994 and 2011. Echocardiogram images were reviewed for pulmonary hypertension, and statistical analyses were performed to identify risk factors associated with the presence of pulmonary hypertension.
Results:
Pulmonary hypertension was diagnosed in 32/56 (57%) infants with omphalocele. Compared to infants without pulmonary hypertension, infants with pulmonary hypertension were more likely to have a liver-containing defect (16/32 [50%] vs. 5/24 [21%], p = 0.03), require intubation at birth (18/32 [56%] vs. 6/24 [17%], p = 0.03), and die during initial hospitalization (12/32 [38%] vs. 2/24 [8%], p = 0.01).
Conclusion:
The majority of infants with omphalocele have evidence of pulmonary hypertension which is associated with increased mortality. Echocardiograms to screen for pulmonary hypertension should be obtained at ≥2 days of life in infants with omphalocele, especially in those with liver within the omphalocele sac and/or in those infants who require intubation at birth to screen for pulmonary hypertension.
Background: Gastroschisis is an increasingly prevalent congenital anomaly. Few reports have examined the long-term outcome associated with gastroschisis. Objective: To examine gastroschisis patients and matched controls to determine the influence of gastroschisis on re-hospitalizations, growth and development in infancy and early childhood. Methods: This was a cross-sectional, case-control study. Gastroschisis patients were categorized by neonatal course: 1) primary repair, 2) staged repair with a silo, and 3) intestinal complication (atresia, perforation, or intestinal resection). Controls were matched by gender, gestational age, and chronological age. We compared cases and controls using McNemar's chi-square tests or sign-rank tests. Outcomes by category were examined using chi-square or ANOVA. We adjusted chronological age for prematurity in infants < 24 months old at follow-up. Results: We enrolled 58 cases and 58 controls. Mean adjusted evaluation age was 39.1 ± 26.2 and 43.6 ± 24.9 months for cases and controls respectively (p = 0.081). Gastroschisis significantly increased re-hospitalization after initial discharge (45% vs. 17%, p < 0.001). Cases with intestinal complications in the neonatal period had the highest rate of re-hospitalization (75%), but 32% of cases with a primary repair also required re-hospitalization. Gastroschisis cases had an exam weight < 10th centile twice as commonly as controls (21% vs. 11%, p = 0.199). Weight < 10th centile did not differ by category: primary repair (20%), silo (19%), and neonatal intestinal complications (25%) (p = 0.915). Parents of gastroschisis patients with neonatal intestinal complications reported that they deferred subsequent childbearing in 5/12 (45%) cases. Gastroschisis appeared to increase the prevalence of growth and developmental problems, but these differences were not statistically significant. Conclusion: Our study indicates that the outcome of gastroschisis is generally encouraging. However, gastroschisis patients warrant close follow-up throughout childhood. Abbreviations: BW, birth weight; GI, gastrointestinal; IV days, total days on which parenteral fluids were given intravenously; LOS, length of hospital stay from birth to discharge home; LT, length/height; OFC, occipitofrontal circumference; SD, standard deviation; SGA, small for gestational age; WT, weight.
To describe neonatal and childhood outcomes of a contemporary cohort of infants with gastroschisis.
Observational, single center, inception cohort of children born with gastroschisis from January 2005 to December 2008.
Of 63 infants, 61 survived to hospital discharge and 39 were seen for follow-up. Complications included sepsis (37%), necrotizing enterocolitis (10%), parenteral nutrition related cholestasis (25%), and short bowel syndrome (13%). Of survivors, 5% had visual impairment and 10% had hearing loss. No child tested had mental delay or cerebral palsy. Early gestational age predicted death or disability (OR 0.60, 95% CI 0.38, 0.96; p=0.033). There was a high incidence of prescription medications for presumed gastroesophageal reflux (90%). Some infants continued to require tube feeds (15%). There were improvements in longitudinal growth reflected in increasing z-scores.
Although children with gastroschisis are at risk for disability, childhood outcomes are encouraging.
Gastroschisis is a congenital defect of the abdominal wall involving evisceration of abdominal contents. The incidence of gastroschisis is approximately 1.4 per 10,000 pregnancies and is rarely associated with other congenital anomalies. To provide appropriate care for these infants, the newborn/infant nurse must have a clear understanding of the embryology, etiology, and pathophysiology of the defect, and the ability to differentiate between gastroschisis and omphalocele. The purpose of this article is to provide the reader with a basic understanding of management strategies. Parents need to be provided with timely and accurate education and support as they cope with the stress of having an infant with gastroschisis. With appropriate care, these infants do well and have an essentially normal outcome.
The aim of this study was to determine the incidence of cholestasis and the correlation between cholestasis and weight-for-age z scores in parenteral nutrition-dependent neonates with gastroschisis.
A single-center retrospective review of 59 infants born with gastroschisis from January 2000 to June 2007 was conducted. Demographic and clinical data were collected and analyzed. Subjects were divided into cholestatic and noncholestatic groups. Statistical analyses included the Student t test, Wilcoxon rank sum test, Fisher exact test, and a general linear model.
Fifty-nine neonates with gastroschisis were identified, and 16 (28%) of 58 patients developed cholestasis. Younger gestational age and cholestasis were found to be independently associated with weight-for-age z score in 30 of 58 patients with available long-term follow-up data.
Parenteral nutrition-dependent neonates with gastroschisis remain at considerable risk for the development of cholestasis. Both gestational age and cholestasis were found to be independent risk factors, predisposing these neonates to poor postnatal growth.
Relative to the wealth of information in the medical literature regarding developmental outcome for infants who have had cardiac surgery available, few studies specifically detail how those who have undergone major surgery grow and develop. The few published studies tend to be disease specific, making their results difficult to translate to a more general setting. As mortality for most infants who require surgery in infancy continues to decrease, the focus for researchers and clinicians should be on how these children will grow and develop. As parents realise that their infant will survive, this becomes their next major concern. The most common conditions requiring early major surgery have been reviewed in relation to data on infant developmental outcomes.
The objective of this study is to determine the short-term neurodevelopmental outcome in infants with giant omphalocele (GO).
Between January 2002 and December 2007, 31 consecutive infants with GO received prenatal and postnatal care at our institution. Overall survival was 81% (25/31). Twenty (80%) of the survivors were enrolled in a prospective interdisciplinary follow-up program. Fifteen were at least 6 months of age and received detailed neurodevelopmental evaluation using the Bayley Scales of Infant Development II (BSID-II [before 2006, n = 3]) or BSID-III (after 2006, n = 12). Scores were grouped as average, mildly delayed, and severely delayed by SD intervals (115-85, 71-84, <70). Scores were considered mixed if cognitive or language skills were in different ranges.
Median age at evaluation was 12 months (range, 6-26 months). Average, mildly delayed, and severely delayed scores for cognitive and language skills were found in 6 (40%), 2 (13%), and 6 (40%), respectively. One child had mixed scores (severely delayed for cognitive and mildly delayed for language skills). Motor scores were normal, mildly delayed, and severely delayed in 6 (40%), 2 (13%), and 7 (47%), respectively. The neuromuscular examination was abnormal in 8 patients (62%). Five (33%) scored within the average range, whereas 6 (40%) demonstrated severe delays for cognitive, language, and motor outcome. Of the 6 children with severe delays, 2 (13% of total) have autism, 4 required tracheostomy, and 1 was diagnosed with Williams syndrome.
The presence of GO is associated with deficits in developmental achievements in most of the affected infants ranging from mild to profound delays. These findings underscore the importance of early and standardized neurodevelopmental evaluation throughout childhood for all survivors with GO. Larger studies are warranted for risk factor stratification.
Dissertação (mestrado)—Universidade de Brasília, Faculdade de Medicina, 2006. Objetivo: Correlacionar as imagens das alterações ultra-sonográficas de fetos com gastrosquise ao prognóstico pós-natal. Tipo de Estudo: Estudo retrospectivo, descritivo, tipo série de casos, realizado no Hospital Regional da Asa Sul, no período de 2002 a 2006. Pacientes: Foram incluídos 30 pacientes, seguidos desde o período pré-natal, com ultrasonografias seriadas que foram avaliados e acompanhados pela mesma equipe no período pósnatal. Variáveis analisadas: Nos exames ultra-sonográficos pré-natais dos fetos com gastrosquise, foram analisadas quatro alterações principais: dilatação de alça intestinal intra ou extraabdominal maior que 18 mm, espessamento da parede intestinal e espessamento do mesentério.Estas alterações foram relacionadas ao prognóstico no período pós-natal. Os dados gerais das gestantes foram: idade ao início da gestação e número de exames ultra-sonográficos realizados durante o período gestacional. Os dados gerais dos recém-nascidos foram: o gênero, a idade gestacional, o peso ao nascimento, o aspecto do líquido amniótico e as anomalias associadas. As variáveis relacionadas com o prognóstico foram: classificação quanto ao aspecto das alças intestinais exteriorizadas ao nascimento, mortalidade, número de complicações, presença de atresias intestinais e tempo de internação hospitalar. Método: Foram realizadas ultra-sonografias pré-natais seriadas nos fetos com gastrosquise. Por meio de protocolos padronizados, foram feitas revisões de prontuários e entrevistas com os genitores para a coleta das variáveis a serem analisadas. A presença ou ausência de alterações ultra-sonográficas, em fetos com o diagnóstico de gastrosquise foi correlacionada aos fatores prognósticos pós-natais.Os testes de Fisher, análise de variância de ANOVA, teste de Ducan e o teste t de student foram utilizados para a análise estatítiscas. Conclusão: Os pacientes com gastrosquise que apresentavam alterações ultra-sonográficas durante o período pré-natal tiveram piores prognósticos quando comparados aos pacientes que não apresentaram estas alterações. _______________________________________________________________________________ ABSTRACT Objective: To correlate the alterated ultrasonographic images of gastroschisis’ fetus with the postnatal prognosis. Type of Study: A retrospective descriptive study of case series. The study was carried on at Hospital Regional da Asa Sul from 2002 until 2006. Patients: Thirty patients were included in the study. They were all followed during the prenatal period with serial ultrasonographic observations. At postnatal period, the same multidisciplinary team evaluated the patient. Analyzed variables: At prenatal ultrasonographic exams of fetus with gastroschisis, four main alterations were analyzed and related to postnatal prognosis. The first two were dilatation of an intestinal segment bigger than 18mm, either intra or extra-abdominal. The third was the thickness of the intestinal wall and the fourth, the thickness of the mesenterium. General data collected from the pregnant woman were the age at the beginning of pregnancy and the number of ultrasonographic exams done during the gestational period. General data from the newborn included gender, gestational age, birth weight, the aspect of aminiotic fluid and associated anomalies. The variables that were related with prognosis were: the aspect of extra-abdominal intestinal segments, mortality, complications, the presence of atresic intestinal segments and total hospitalization period. Method: Prenatal serial ultrasonographic images were done to evaluate alterations in fetus with gastroschisis. From established protocols, all charts were reviewed and an interview with the parents was carried out to check the variables that would be analyzed. The presence or absence of ultrasonographic alterations, in gastroschisis’ fetus, was correlated with postnatal prognosis factors. The statistical analysis was done with Fisher exact test, one-way analysis of variance - ANOVA, Ducan’s test and student’s t-test. Conclusion: Gastroschisis’ patients that had ultrasonographic alterations during prenatal period had a worse prognosis when they were compared with patients that did not have these alterations.
To assess the outcome following an ultrasound diagnosis of isolated fetal omphalocele (normal karyotype).
Ultrasound database (1988-2002) was searched for omphalocele. Categories assigned as (1) isolated-no additional structural/karyotype anomalies, (2) associated minor abnormality, and (3) major structural/karyotype abnormalities.
Ultrasound identified 65 cases, 13 with isolated omphalocele and 6 with associated minor anomalies. These 19 cases represented 29.2% of the population (19/65); isolated omphalocele was confirmed in 14 neonates (14/19, 73.7%). In five neonates, unrecognized by prenatal ultrasound were cardiac anomalies (2 cases), tracheoesophageal atresia with cardiac anomaly (1 case), and Beckwith-Wiedemann syndrome (BWS) (2 cases). A minor ultrasound finding did not predict further anomalies at birth. Preterm delivery complicated 37.5%; the only deaths occurred among preterm infants. Follow-up of isolated omphalocele found no long-term medical issues or learning disabilities except speech delay.
Isolated fetal omphalocele is the exception. An additional minor ultrasound finding does not impact a relatively good prognosis with little long-term morbidity. However, this series highlights two areas of caution: (1) one-third were delivered preterm with a 50% rate of demise and (2) in a quarter of cases, an additional major anomaly or BWS was identified in the neonate.
To describe the prevalence, associated anomalies, prenatal diagnosis and survival of cases of gastroschisis.
Data were extracted from the Northern Congenital Abnormality Survey (NorCAS) for cases delivered during 1997 to 2006.
A total of 143 cases of gastroschisis were notified from 310 410 registered births. Ten (7%) gastroschisis cases were associated with other structural anomalies. The male to female ratio among isolated gastroschisis cases was 1:1.1 and 4:1 among non-isolated cases. The total prevalence for isolated cases was 4.28 per 10,000 births (95% CI 3.56-5.01), and the overall live birth prevalence was 4.21 per 10,000 live births (95% CI 3.49-4.93). There was an increase in total prevalence during the ten years, although this increase did not reach statistical significance (chi(2) test for trend = 0.996, p = 0.318). The maternal age-specific prevalence was highest in the less than 20 years age group (18.6 per 10 000 births (95% CI 14.0-23.3)). 130 (97.7%) isolated cases resulted in a live birth; 122 (91.7%) infants were alive at age one year. The accuracy of prenatal diagnosis was high, with gastroschisis being detected in 130 (97.7%) isolated cases.
This population-based study demonstrates a continued increase in gastroschisis, especially in young mothers. The accuracy of prenatal diagnosis was very high. Just over 90% of children born with gastroschisis survived.
As long as the survival rate of patients with abdominal wall defects (AWD) increases, information about long-term follow-up is becoming necessary. Even though quality of life in these patients, in absence of associated anomalies, appears to be unaffected, respiratory impairment soon after birth has been documented; therefore, participation in sports rarely is addressed.
Eighteen patients, ranging in age from 7 to 18 years, operated on at birth for large abdominal wall defects (> 4 cm for gastroschisis; >6 cm for omphalocele) were asked to come for a stress test on a treadmill, with measurements of time of exercise (TE), maximal oxygen consumption (VO2 max) and continuous recording of vital parameters. Respiratory function also was assessed by Forced Vital Capacity (FVC).
Ergometric data were compared with those of a normal pediatric population. All patients were able to perform the stress test with no cardiovascular abnormalities detected at rest or on exertion. Maximum heart rate was reached after a significantly shorter TE, and VO2 max was significantly reduced when comparing normal subjects with AWD subjects and AWD subjects in sports with those sedentary. FVC was only slightly reduced in AWD patients without reaching statistical significance.
These findings indicate that patients operated on for AWD at birth exhibit a normal cardiorespiratory function; decreased TE and VO2 max are likely to reflect a lack of physical activity with a lower degree of fitness. Therefore, no limitations to motor performances should exist for these patients. Well-being may be greatly improved by regular exercise.
Unlabelled:
Little is known about the fate of the liver and spleen after closure of the abdominal cavity in patients with abdominal wall defects (AWD). Therefore, counselling families for long-term follow-up and in the case of surgery for acute disease, pregnancy or trauma may be difficult. A total of 18 patients ranging in age from 7 to 18 years, with AWD closed at birth, underwent ultrasound evaluation of liver and spleen size by determination of the index of liver size (ILS) and splenic volume (SV). These values were then correlated with some anthropometric parameters such as body mass index (BMI) and weight; correlation was also sought with some clinical features such as type of defect and direct or staged closure. Nearly all subjects exhibited weight above and BMI below the 50th percentile for age. ILS and SV were significantly above normal limits in all cases and no difference was found with regard to the type of defect.
Conclusion:
In patients having undergone surgery for abdominal wall defects, liver and spleen usually regain their normal shape and position even though size and volume appear to be larger than in normal controls.
Three women, aged 30, 18 and 37 years respectively, were diagnosed during the course of their pregnancies with congenital anomalies that carry a high risk of mortality and morbidity, namely a neural tube defect, gastroschisis and trisomy 22. All 3 women chose to continue their pregnancy and received various forms of counselling concerning the differences between the estimated prognoses. For the first patient, the emphasis was explaining the consequences of the disease for the unborn child and the parents and how the resulting handicaps could be minimised by medical treatment. For the second patient, the treatment plan was deliberately curative, and regrettably this failed. For the third patient, the attending physician guided the parents through their future loss and supported them during their period of mourning.
To review published peer-reviewed literature regarding abdominal wall defects including gastroschisis and omphalocele.
Review of published peer-reviewed literature using Med Line 1985-2003 and textbooks.
Gastroschisis and omphalocele literature is reviewed using pathology, incidence and epidemiology, prenatal evaluation, pregnancy and delivery management, postnatal outcome and fetal therapy.
Gastroschisis and omphalocele are common abdominal wall defects and have significant morbidity and mortality.
In the past decade, the preferred method of closure of gastroschisis at our institution has been staged reduction using a silo with repair on an elective basis (SR) rather than primary surgical closure (PC). We performed a 20-year case review of infants with gastroschisis at a university hospital to compare these shifts in management and to determine factors affecting outcome.
Seventy-two cases were reviewed from 1983 to 2003. Times to first and full feeds were outcome variables for statistical analysis.
The prevalence of gastroschisis increased from 0.03% to 0.1% since 1983. Patients had low birth weights (mean = 2294 g) and were borderline premature (mean = 35.8 weeks). Only 3% of the infants were African American. There was a high rate of cesarean deliveries (57%). Ten patients (15%) had gastroschisis complicated by liver herniation, intestinal atresia(s), and/or necrosis/perforation. Most patients were managed by SR (67%). Eight percent of the infants died, 9% developed necrotizing enterocolitis, and 50% had other gastrointestinal complications. Twenty-seven percent of the infants managed with SR did not need initial mechanical ventilation. However, the patients who underwent SR were ventilated longer after birth as compared with those who underwent PC (P < .08). Infants with a complicated gastroschisis had significantly longer times to first and full feeds (P < .001). Patients managed with SR took significantly longer to reach full feeds (P = .001), and there was a trend of starting feeds later (P = .06). When patients with a complicated gastroschisis were excluded, the differences between the SR and PC groups were even greater (P = .01; P < .001).
In our patient population, the prevalence of gastroschisis increased by more than 400% since 1983. The defect was rare in African-American infants. Management by SR was associated with longer ventilation times and longer times to first and full feeds for both uncomplicated and complicated gastroschisis cases.
During a 16-year period, 60 neonates with gastroschisis were treated at the Department of Pediatric Surgery in Graz; 6 died and 54 (90%) survived. A questionnaire was sent to 45 patients, who were called for a medical examination; 31 patients (69%) came to follow-up, 26 of whom reported minor abdominal problems that could be related to gastroesophageal reflux (GER). Fifteen agreed to 24-h esophageal pH monitoring and/or upper gastrointestinal series; in 7 pathological GER could be demonstrated. Manometric studies in 6 patients revealed a motility disorder of the esophagus. Only 4 children were concerned by a disfiguring scar or the absence of a navel. Heigtt and weight were within normal limits and the children had developed normally.
Clinical data from 236 reported cases of omphalocele and from 278 reported cases of gastroschisis, largely from the recent literature, are reviewed to assess clinical areas of difference between those two major abdominal wall defects of the newborn. Gastroschisis occurred twice as often as did omphalocele and appeared to be increasing in frequency despite a falling birth rate. The greatest hazard in gastroschisis was from small defects; whereas in omphalocele it was associated with large defects. Nonintestinal viscera protruding through large abdominal defects in omphalocele was limited to liver, whereas in gastroschisis, stomach, urinary bladder, and uterus and adnexa tended to be the organs eviscerated through large defects. The 58% incidence of prematurity in association with gastroschisis was significantly greater than the 10% incidence in omphalocele (P<0.001). Additional malformations occurred more frequently in omphalocele, 37 vs. 18% (P<0.001). In gastroschisis additional malformations were concentrated in the jejunoileal area of the intestine in comparison with omphalocele - 14 vs. 1% (P<0.001). Many of these jejunoileal malformations in gastroschisis (atresias) may be acquired and may be regarded as an integral part of the gastroschisis condition. nonjejunoileal malformations occurred more frequently in association with omphalocele, 35 vs. 4% (P<0.001). Cardiac malformations were more frequent in cases of omphalocele, 20 vs. 2% (P<0.001), and were more complex and serious. Omphalocele frequently was associated with specific syndromes in which it played a major part (lower and upper midline syndromes and Beckwith-Wiedemann syndrome). These syndromes were not encountered in association with gastroschisis. Gastroschisis and omphalocele also differed with respect to gross appearance, clinical challenges, and response to surgical therapy. A new and more detailed classification of omphalocele and gastroschisis is presented.
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.
Forty-six children operated on for omphalocele or gastroschisis were followed up at an average age of 8.8 years. A questionnaire form was sent to all patients. Fourteen were called for a medical examination including x-ray and laboratory test. An increased incidence of intestinal obstruction during the first year of life was found. Seven children reported recurrent abdominal pain, but the x-ray film showed no evidence of intestinal obstruction. Some girls were for cosmetic reasons concerned over the absence of their navel or a disfiguring scar on the abdominal wall. Otherwise the children had developed normally. Length and weight were within normal limits and the children had no serious consequences of their severe congenital malformation.
To determine whether outcomes of infants with gastroschisis differed by mode or site of delivery, diagnostic method, or when maternal-fetal medicine consultation was given.
Charts of 32 infants born at the University of Mississippi Medical Center or admitted to the neonatal intensive care unit between September 1992 and June 1998 were reviewed for maternal demographic characteristics and neonatal outcomes. Statistical analysis was done using Student t test, analysis of variance, chi2, and Kruskal-Wallis test with P<.05 considered statistically significant.
There were no statistically significant differences in neonatal outcomes by method or site of delivery, diagnostic method, or maternal-fetal medicine consultation before delivery. Infants delivered vaginally had higher Apgar scores at 1 and 5 minutes (9 versus 7 and 9 versus 8, respectively, P<.05). Vaginally delivered infants required more days of antibiotic therapy than those delivered abdominally (10 versus 3 days, P<.05) but had a shorter interval to enteral feedings (15 versus 30 days, P<.05).
Outcomes of infants with isolated gastroschisis were not significantly affected by method or site of delivery, diagnostic method, or maternal-fetal surveillance. Although the findings of this investigation were largely negative and the statistical power limited due to the rarity of this fetal disruption, small series of cases of gastroschisis need to be analyzed to resolve current controversies surrounding optimal treatment of gastroschisis.